Raras
Buscar doenças, sintomas, genes...
Doença de Behçet
ORPHA:117CID-10 · M35.2CID-11 · 4A62OMIM 109650PCDT · SUSDOENÇA RARA

Vasculite crônica, recidivante e multissistêmica caracterizada por lesões mucocutâneas, bem como manifestações articulares, vasculares, oculares e do sistema nervoso central.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Vasculite crônica, recidivante e multissistêmica caracterizada por lesões mucocutâneas, bem como manifestações articulares, vasculares, oculares e do sistema nervoso central.

Pesquisas ativas
5 ensaios
24 total registrados no ClinicalTrials.gov
Publicações científicas
1.961 artigos
Último publicado: 2026 Mar

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 100 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
5.2
United States
Início
Adolescent
+ adult, childhood
🏥
SUS: Cobertura mínimaScore: 30%
PCDT disponívelCID-10: M35.2
Você se identifica com essa condição?
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

👁️
Olhos
8 sintomas
❤️
Coração
8 sintomas
🫃
Digestivo
6 sintomas
🧠
Neurológico
5 sintomas
🫘
Rins
4 sintomas
🩸
Sangue
4 sintomas

+ 49 sintomas em outras categorias

Características mais comuns

90%prev.
Náusea e vômito
Muito frequente (99-80%)
90%prev.
Estomatite aftosa recorrente
Muito frequente (99-80%)
90%prev.
Febre
Muito frequente (99-80%)
90%prev.
Artrite
Muito frequente (99-80%)
90%prev.
Nódulo subcutâneo
Muito frequente (99-80%)
90%prev.
Pápula
Muito frequente (99-80%)
95sintomas
Muito frequente (14)
Frequente (21)
Ocasional (48)
Muito raro (2)
Sem dados (10)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 95 características clínicas mais associadas, ordenadas por frequência.

Náusea e vômitoNausea and vomiting
Muito frequente (99-80%)90%
Estomatite aftosa recorrenteRecurrent aphthous stomatitis
Muito frequente (99-80%)90%
FebreFever
Muito frequente (99-80%)90%
ArtriteArthritis
Muito frequente (99-80%)90%
Nódulo subcutâneoSubcutaneous nodule
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico1.961PubMed
Últimos 10 anos200publicações
Pico202586 papers
Linha do tempo
2026Hoje · 2026🧪 2009Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

15 genes identificados com associação a esta condição. Padrão de herança: Multigenic/multifactorial.

HLA-BHLA class I histocompatibility antigen, B alpha chainMajor susceptibility factor inTolerante
FUNÇÃO

Antigen-presenting major histocompatibility complex class I (MHCI) molecule. In complex with B2M/beta 2 microglobulin displays primarily viral and tumor-derived peptides on antigen-presenting cells for recognition by alpha-beta T cell receptor (TCR) on HLA-B-restricted CD8-positive T cells, guiding antigen-specific T cell immune response to eliminate infected or transformed cells (PubMed:23209413, PubMed:25808313, PubMed:29531227, PubMed:9620674). May also present self-peptides derived from the

LOCALIZAÇÃO

Cell membraneEndoplasmic reticulum membrane

VIAS BIOLÓGICAS (1)
E3 ubiquitin ligases ubiquitinate target proteins
MECANISMO DE DOENÇA

Stevens-Johnson syndrome

A rare blistering mucocutaneous disease that share clinical and histopathologic features with toxic epidermal necrolysis. Both disorders are characterized by high fever, malaise, and a rapidly developing blistering exanthema of macules and target-like lesions accompanied by mucosal involvement. Stevens-Johnson syndrome is a milder disease characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area. Ocular symptoms include ulcerative conjunctivitis, keratitis, iritis, uveitis and sometimes blindness. It can be caused by a severe adverse reaction to particular types of medication, although Mycoplasma infections may induce some cases.

EXPRESSÃO TECIDUAL(Ubíquo)
Sangue
8283.6 TPM
Baço
6025.1 TPM
Linfócitos
5071.2 TPM
Pulmão
4631.0 TPM
Intestino delgado
2873.0 TPM
OUTRAS DOENÇAS (7)
obsolete pulmonary arterial hypertension associated with connective tissue diseaseTakayasu arteritistemporal arteritisStevens-Johnson syndrome
HGNC:4932UniProt:P01889
MEFVPyrinMajor susceptibility factor inTolerante
FUNÇÃO

Involved in the regulation of innate immunity and the inflammatory response in response to IFNG/IFN-gamma (PubMed:10807793, PubMed:11468188, PubMed:16037825, PubMed:16785446, PubMed:17431422, PubMed:17964261, PubMed:18577712, PubMed:19109554, PubMed:19584923, PubMed:26347139, PubMed:27030597, PubMed:28835462). Organizes autophagic machinery by serving as a platform for the assembly of ULK1, Beclin 1/BECN1, ATG16L1, and ATG8 family members and recognizes specific autophagy targets, thus coordinat

LOCALIZAÇÃO

Cytoplasm, cytoskeletonCell projection, ruffleCell projection, lamellipodiumNucleusCytoplasmCytoplasmic vesicle, autophagosome

VIAS BIOLÓGICAS (2)
Purinergic signaling in leishmaniasis infectionThe NLRP3 inflammasome
MECANISMO DE DOENÇA

Familial Mediterranean fever, autosomal recessive

A hereditary periodic fever syndrome characterized by recurrent episodic fever, serosal inflammation and pain in the abdomen, chest or joints. It is frequently complicated by reactive amyloidosis, which leads to renal failure and can be prophylactically treated with colchicine.

EXPRESSÃO TECIDUAL(Tecido-específico)
Sangue
81.4 TPM
Baço
19.9 TPM
Pulmão
10.6 TPM
Testículo
4.1 TPM
Adipose Visceral Omentum
1.9 TPM
OUTRAS DOENÇAS (6)
autosomal recessive familial Mediterranean feversweet syndromefamilial Mediterranean fever, autosomal dominantBehcet disease
HGNC:6998UniProt:O15553
TLR4Toll-like receptor 4Major susceptibility factor inTolerante
FUNÇÃO

Transmembrane receptor that functions as a pattern recognition receptor recognizing pathogen- and damage-associated molecular patterns (PAMPs and DAMPs) to induce innate immune responses via downstream signaling pathways (PubMed:10835634, PubMed:15809303, PubMed:16622205, PubMed:17292937, PubMed:17478729, PubMed:20037584, PubMed:20711192, PubMed:23880187, PubMed:27022195, PubMed:29038465, PubMed:17803912, PubMed:15852007). At the plasma membrane, cooperates with LY96 to mediate the innate immune

LOCALIZAÇÃO

Cell membraneEarly endosomeCell projection, ruffle

VIAS BIOLÓGICAS (9)
TRAF6-mediated induction of TAK1 complex within TLR4 complexIRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulationIKK complex recruitment mediated by RIP1MyD88-independent TLR4 cascade Activation of IRF3, IRF7 mediated by TBK1, IKKε (IKBKE)
EXPRESSÃO TECIDUAL(Ubíquo)
Baço
40.5 TPM
Sangue
40.1 TPM
Adipose Visceral Omentum
27.6 TPM
Pulmão
23.4 TPM
Tecido adiposo
23.3 TPM
OUTRAS DOENÇAS (1)
Behcet disease
HGNC:11850UniProt:O00206
STAT4Signal transducer and activator of transcription 4Major susceptibility factor inAltamente restrito
FUNÇÃO

Transcriptional regulator mainly expressed in hematopoietic cells that plays a critical role in cellular growth, differentiation and immune response (PubMed:10961885, PubMed:37256972, PubMed:8943379). Plays a key role in the differentiation of T-helper 1 cells and the production of interferon-gamma (PubMed:12213961, PubMed:35614130). Also participates in multiple neutrophil functions including chemotaxis and production of the neutrophil extracellular traps (By similarity). After IL12 binding to

LOCALIZAÇÃO

CytoplasmNucleus

VIAS BIOLÓGICAS (5)
Interleukin-20 family signalingInterleukin-21 signalingInterleukin-12 signalingInterleukin-35 SignallingInterleukin-23 signaling
MECANISMO DE DOENÇA

Systemic lupus erythematosus 11

A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.

EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
34.7 TPM
Pituitária
24.0 TPM
Brain Frontal Cortex BA9
17.3 TPM
Baço
16.7 TPM
Córtex cerebral
15.3 TPM
OUTRAS DOENÇAS (7)
disabling pansclerotic morphea of childhoodpediatric systemic lupus erythematosusoligoarticular juvenile idiopathic arthritissystemic lupus erythematosus
HGNC:11365UniProt:Q14765
FASTumor necrosis factor receptor superfamily member 6Major susceptibility factor inAltamente restrito
FUNÇÃO

Receptor for TNFSF6/FASLG. The adapter molecule FADD recruits caspase CASP8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs CASP8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. FAS-mediated apoptosis may have a role in the induction of peripheral tolerance, in the antigen-stimulated suicide of mature T-cells, or both. The secreted isoforms 2 to 6 block apoptosis (in v

LOCALIZAÇÃO

Cell membraneMembrane raftSecreted

VIAS BIOLÓGICAS (7)
RIPK1-mediated regulated necrosisCASP8 activity is inhibitedRegulation by c-FLIPCaspase activation via Death Receptors in the presence of ligandDimerization of procaspase-8
MECANISMO DE DOENÇA

Autoimmune lymphoproliferative syndrome 1A

A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
75.4 TPM
Ovário
43.2 TPM
Fibroblastos
41.0 TPM
Pulmão
37.9 TPM
Cervix Endocervix
28.8 TPM
OUTRAS DOENÇAS (4)
autoimmune lymphoproliferative syndrome type 1Vogt-Koyanagi-Harada diseaseBehcet diseaseautoimmune lymphoproliferative syndrome
HGNC:11920UniProt:P25445
IL12AInterleukin-12 subunit alphaMajor susceptibility factor inTolerante
FUNÇÃO

Heterodimerizes with IL12B to form the IL-12 cytokine or with EBI3/IL27B to form the IL-35 cytokine (PubMed:8605935, PubMed:8943050). IL-12 is primarily produced by professional antigen-presenting cells (APCs) such as B-cells and dendritic cells (DCs) as well as macrophages and granulocytes and regulates T-cell and natural killer-cell responses, induces the production of interferon-gamma (IFN-gamma), favors the differentiation of T-helper 1 (Th1) cells and is an important link between innate res

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (4)
Interleukin-10 signalingInterleukin-4 and Interleukin-13 signalingInterleukin-12 signalingInterleukin-35 Signalling
EXPRESSÃO TECIDUAL(Tecido-específico)
Linfócitos
7.4 TPM
Esôfago - Mucosa
6.6 TPM
Baço
3.5 TPM
Pulmão
2.9 TPM
Fibroblastos
2.9 TPM
OUTRAS DOENÇAS (2)
Behcet diseaseprimary biliary cholangitis
HGNC:5969UniProt:P29459
UBAC2Ubiquitin-associated domain-containing protein 2Major susceptibility factor inTolerante
FUNÇÃO

Restricts trafficking of FAF2 from the endoplasmic reticulum to lipid droplets (PubMed:23297223). In association with LMBR1L and E3 ubiquitin-protein ligase AMFR, negatively regulates the canonical Wnt signaling pathway in the lymphocytes by promoting the ubiquitin-mediated degradation of CTNNB1 and Wnt receptors FZD6 and LRP6 (PubMed:31073040)

LOCALIZAÇÃO

Endoplasmic reticulum membrane

EXPRESSÃO TECIDUAL(Ubíquo)
Skin Sun Exposed Lower leg
46.3 TPM
Testículo
45.1 TPM
Skin Not Sun Exposed Suprapubic
44.8 TPM
Esôfago - Mucosa
40.8 TPM
Fibroblastos
36.3 TPM
OUTRAS DOENÇAS (1)
Behcet disease
HGNC:20486UniProt:Q8NBM4
KLRC4NKG2-F type II integral membrane proteinMajor susceptibility factor inModerado
FUNÇÃO

May play a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells

LOCALIZAÇÃO

Membrane

EXPRESSÃO TECIDUAL(Tecido-específico)
Baço
7.5 TPM
Pulmão
4.1 TPM
Intestino delgado
3.5 TPM
Tireoide
1.8 TPM
Adipose Visceral Omentum
1.7 TPM
OUTRAS DOENÇAS (1)
Behcet disease
HGNC:6377UniProt:O43908
C4AComplement C4-AMajor susceptibility factor inAltamente restrito
FUNÇÃO

Precursor of non-enzymatic components of the classical, lectin and GZMK complement pathways, which consist in a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system Non-enzymatic component of C3 and C5 convertases (PubMed:8538770). Generated following cleavage by complement proteases (C1S, MASP2 or GZMK, depending on the complement pathway), it covalently attaches to the surface of pathogens, where it acts as an opson

LOCALIZAÇÃO

SecretedSynapseCell projection, axonCell projection, dendriteCell surface

VIAS BIOLÓGICAS (2)
Post-translational protein phosphorylationRegulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
MECANISMO DE DOENÇA

Complement component 4A deficiency

A rare defect of the complement classical pathway associated with the development of autoimmune disorders, mainly systemic lupus with or without associated glomerulonephritis.

OUTRAS DOENÇAS (5)
complement component 4a deficiencyBehcet diseaseimmunodeficiency due to a classical component pathway complement deficiencysystemic lupus erythematosus
HGNC:1323UniProt:P0C0L4
CCR1C-C chemokine receptor type 1Major susceptibility factor inModerado
FUNÇÃO

Chemokine receptor that plays a crucial role in regulating immune cell migration, inflammation, and immune responses (PubMed:14991608). Contributes to the inflammatory response by recruiting immune cells, such as monocytes, macrophages, T-cells, and dendritic cells, to sites of inflammation for the clearance of pathogens and the resolution of tissue damage. When activated by its ligands including CCL3, CCL5-9, CCL13-16 and CCL23, triggers a signaling cascade within immune cells, leading to their

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (3)
G alpha (i) signalling eventsChemokine receptors bind chemokinesInterleukin-10 signaling
OUTRAS DOENÇAS (1)
Behcet disease
HGNC:1602UniProt:P32246
IL12A-AS1Major susceptibility factor inDesconhecido
LOCALIZAÇÃO

VIAS BIOLÓGICAS (4)
Interleukin-10 signalingInterleukin-4 and Interleukin-13 signalingInterleukin-12 signalingInterleukin-35 Signalling
OUTRAS DOENÇAS (1)
Behcet disease
HGNC:49094
IL23RInterleukin-23 receptorMajor susceptibility factor inTolerante
FUNÇÃO

Associates with IL12RB1 to form the interleukin-23 receptor. Binds IL23 and mediates T-cells, NK cells and possibly certain macrophage/myeloid cells stimulation probably through activation of the Jak-Stat signaling cascade. IL23 functions in innate and adaptive immunity and may participate in acute response to infection in peripheral tissues. IL23 may be responsible for autoimmune inflammatory diseases and be important for tumorigenesis

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (2)
Interleukin-4 and Interleukin-13 signalingInterleukin-23 signaling
MECANISMO DE DOENÇA

Inflammatory bowel disease 17

A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints.

EXPRESSÃO TECIDUAL(Baixa expressão)
Linfócitos
2.5 TPM
Testículo
1.4 TPM
Glândula adrenal
0.4 TPM
Cólon transverso
0.2 TPM
Intestino delgado
0.1 TPM
OUTRAS DOENÇAS (3)
Behcet diseasepsoriasis 7, susceptibility toinflammatory bowel disease 17
HGNC:19100UniProt:Q5VWK5
IL10Interleukin-10Major susceptibility factor inRestrito
FUNÇÃO

Major immune regulatory cytokine that acts on many cells of the immune system where it has profound anti-inflammatory functions, limiting excessive tissue disruption caused by inflammation. Mechanistically, IL10 binds to its heterotetrameric receptor comprising IL10RA and IL10RB leading to JAK1 and STAT2-mediated phosphorylation of STAT3 (PubMed:16982608). In turn, STAT3 translocates to the nucleus where it drives expression of anti-inflammatory mediators (PubMed:18025162). Targets antigen-prese

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (6)
Interleukin-10 signalingFCGR3A-mediated IL10 synthesisCD163 mediating an anti-inflammatory responseSignaling by ALK fusions and activated point mutantsInterleukin-4 and Interleukin-13 signaling
EXPRESSÃO TECIDUAL(Tecido-específico)
Linfócitos
8.8 TPM
Baço
3.5 TPM
Adipose Visceral Omentum
3.2 TPM
Testículo
2.5 TPM
Pulmão
1.7 TPM
OUTRAS DOENÇAS (6)
systemic lupus erythematosusBehcet diseaseIL10-related early-onset inflammatory bowel diseaserheumatoid arthritis
HGNC:5962UniProt:P22301
IFNGR1Interferon gamma receptor 1Major susceptibility factor inTolerante
FUNÇÃO

Receptor subunit for interferon gamma/INFG that plays crucial roles in antimicrobial, antiviral, and antitumor responses by activating effector immune cells and enhancing antigen presentation (PubMed:20015550). Associates with transmembrane accessory factor IFNGR2 to form a functional receptor (PubMed:10986460, PubMed:2971451, PubMed:7615558, PubMed:7617032, PubMed:7673114). Upon ligand binding, the intracellular domain of IFNGR1 opens out to allow association of downstream signaling components

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (4)
Interferon gamma signalingIFNG signaling activates MAPKsRegulation of IFNG signalingPotential therapeutics for SARS
MECANISMO DE DOENÇA

Immunodeficiency 27A

A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas.

EXPRESSÃO TECIDUAL(Ubíquo)
Pulmão
268.2 TPM
Baço
207.8 TPM
Sangue
198.3 TPM
Tecido adiposo
171.5 TPM
Adipose Visceral Omentum
160.7 TPM
OUTRAS DOENÇAS (8)
immunodeficiency 27Aautosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiencyautosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiencyMendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
HGNC:5439UniProt:P15260
ERAP1Endoplasmic reticulum aminopeptidase 1Major susceptibility factor inTolerante
FUNÇÃO

Aminopeptidase that plays a central role in peptide trimming, a step required for the generation of most HLA class I-binding peptides. Peptide trimming is essential to customize longer precursor peptides to fit them to the correct length required for presentation on MHC class I molecules. Strongly prefers substrates 9-16 residues long. Rapidly degrades 13-mer to a 9-mer and then stops. Preferentially hydrolyzes the residue Leu and peptides with a hydrophobic C-terminus, while it has weak activit

LOCALIZAÇÃO

Endoplasmic reticulum membrane

VIAS BIOLÓGICAS (1)
Antigen Presentation: Folding, assembly and peptide loading of class I MHC
EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
48.6 TPM
Intestino delgado
26.8 TPM
Fibroblastos
23.3 TPM
Tecido adiposo
22.9 TPM
Fallopian Tube
22.2 TPM
OUTRAS DOENÇAS (1)
Behcet disease
HGNC:18173UniProt:Q9NZ08

Variantes genéticas (ClinVar)

264 variantes patogênicas registradas no ClinVar.

🧬 HLA-B: GRCh37/hg19 6p21.33(chr6:30944923-31867966)x1 ()
🧬 HLA-B: NM_005514.8(HLA-B):c.299A>T (p.Glu100Val) ()
🧬 HLA-B: NM_005514.8(HLA-B):c.1011A>T (p.Ser337=) ()
🧬 HLA-B: NM_005514.8(HLA-B):c.*4+35C>G ()
🧬 HLA-B: NM_005514.8(HLA-B):c.*4+47T>A ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 19 variantes classificadas pelo ClinVar.

7
6
6
Patogênica (36.8%)
VUS (31.6%)
Benigna (31.6%)
VARIANTES MAIS SIGNIFICATIVAS
MEFV: NM_000243.3(MEFV):c.332G>A (p.Gly111Glu) [Pathogenic]
TNFRSF1A: NM_001065.4(TNFRSF1A):c.935G>A (p.Arg312Lys) [Conflicting classifications of pathogenicity]
MEFV: NM_000243.3(MEFV):c.1099C>G (p.Leu367Val) [Conflicting classifications of pathogenicity]
NOD2: NM_001370466.1(NOD2):c.964C>T (p.Leu322Phe) [Pathogenic]
NOD2: NM_022162.2(NOD2):c.2197G>T (p.Val733Leu) [Pathogenic]

Vias biológicas (Reactome)

58 vias biológicas associadas aos genes desta condição.

ER-Phagosome pathway Endosomal/Vacuolar pathway Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell DAP12 interactions Neutrophil degranulation Interferon gamma signaling Interferon alpha/beta signaling SARS-CoV-2 activates/modulates innate and adaptive immune responses Antigen Presentation: Folding, assembly and peptide loading of class I MHC The NLRP3 inflammasome Purinergic signaling in leishmaniasis infection Caspase activation via Death Receptors in the presence of ligand Toll Like Receptor 4 (TLR4) Cascade MyD88:MAL(TIRAP) cascade initiated on plasma membrane MyD88-independent TLR4 cascade TRIF-mediated programmed cell death MyD88 deficiency (TLR2/4) IRAK4 deficiency (TLR2/4) Regulation of TLR by endogenous ligand Activation of IRF3, IRF7 mediated by TBK1, IKKε (IKBKE) IKK complex recruitment mediated by RIP1 TRAF6-mediated induction of TAK1 complex within TLR4 complex Heme signaling IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation Respiratory syncytial virus (RSV) attachment and entry Regulation of TBK1, IKKε (IKBKE)-mediated activation of IRF3, IRF7 RSV-host interactions Dengue Virus-Host Interactions Interleukin-20 family signaling Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation Interleukin-35 Signalling Interleukin-12 signaling Interleukin-23 signaling Interleukin-21 signaling Differentiation of naive CD+ T cells to T helper 1 cells (Th1 cells) Regulation by c-FLIP RIPK1-mediated regulated necrosis CASP8 activity is inhibited TP53 Regulates Transcription of Death Receptors and Ligands Dimerization of procaspase-8 FasL/ CD95L signaling Interleukin-10 signaling Interleukin-4 and Interleukin-13 signaling Initial triggering of complement Activation of C3 and C5 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation Regulation of Complement cascade Dengue virus activates/modulates innate and adaptive immune responses Chemokine receptors bind chemokines G alpha (i) signalling events Interleukin-12 family signaling CD163 mediating an anti-inflammatory response FCGR3A-mediated IL10 synthesis Signaling by ALK fusions and activated point mutants Regulation of IFNG signaling Potential therapeutics for SARS IFNG signaling activates MAPKs

Diagnóstico

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Pipeline de tratamentos
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Aprovado1
3Fase 33
2Fase 24
·Pré-clínico12
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 20 ensaios
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Mostrando amostra de 200 publicações de um total de 901

#1

Multiple cerebral venous thrombosis as the first presentation of Behçet syndrome: case report and literature review.

Irish journal of medical science2026 Jan 13

Cerebral venous thrombosis as the first manifestation of Behçet's Syndrome (BS) is very rare. We describe a case of BS in which all four major cerebral venous sinuses, including the bilateral sigmoid sinuses, transverse sinuses, and superior sagittal sinuses, exhibited severe cerebral venous thrombosis. An 18-year-old man was brought to our hospital with a three-month-old, wide, throbbing headache in both hemispheres and double, blurred vision while looking to the right for the last week. Magnetic Resonance Imaging (MRI) showed extensive thrombosis involving the bilateral sigmoid sinuses, transverse sinuses, and superior sagittal sinus. Collagen tissue diseases and systemic thrombophilia were ruled out. The patient, who had a history of erythema nodosum and genital and oral aphthae, was evaluated as 3/6 (+) positive by the pathergy test, leading to the diagnosis of BS. Prednisolone 48 mg/day and azathioprine 2 × 50 mg/day were started, and the prednisolone dosage was lowered to be stopped in three to four months. For nine months, anticoagulant medicine was administered. Partial recanalization was seen on control MRI venography. It may be life-saving to consider Behçet syndrome as a differential diagnosis in patients with multiple cerebral venous thrombosis.

#2

Effectiveness and Tolerability of Anti-Tumor Necrosis Factor Alpha Therapy in Refractory Intestinal Behçet's Disease: A Large Single-Center Study.

Gut and liver2026 Mar 15

Intestinal Behçet's disease (BD) is a rare, chronic intestinal vascular disorder often refractory to conventional therapy. We aimed to assess the effectiveness and tolerability of anti-tumor necrosis factor alpha (anti-TNF-α) therapy in patients with moderate to severe refractory intestinal BD. Clinical remission, clinical response, and biological response rates at 4, 12, and 24 months, as well as the adverse effects of anti-TNF-α therapy were investigated at the Inflammatory Bowel Disease Center of Severance Hospital, Seoul, Korea. We also examined the relapse rates and predictive factors for disease relapse. Of the 119 patients, 15 (12.6%) were bio-exposed, 68 (57.1%) received concomitant immunomodulators, and 56 (47.1%) received concomitant corticosteroids at anti-TNF-α treatment induction. At 4, 12, and 24 months, clinical remission rates were 23.5%, 40.3%, and 42.0%; clinical response rates were 84.0%, 62.2%, and 62.2%; and biological response rates were 61.3%, 68.9%, and 58.8%, respectively. Sixty-three patients (52.9%) relapsed, with a mean relapse time of 2.8 years. Higher initial C-reactive protein levels (hazards ratio [HR], 1.013; 95% confidence interval [CI], 1.008 to 1.018; p<0.001), history of previous intestinal surgery (HR, 4.282; 95% CI, 2.379 to 7.709; p<0.001), concomitant immunomodulator use (HR, 0.455; 95% CI, 0.267 to 0.775; p=0.004), and clinical response at 4 months (HR, 0.353; 95% CI, 0.181 to 0.687; p=0.002) were independent factors associated with the disease relapse. No mortality was observed during the study period; 26 (21.8%) and three patients (2.5%) experienced mild infection and infusion reactions, respectively. Anti-TNF-α therapy could be an effective and tolerable option for refractory intestinal BD.

#3

CD39 in the pathogenesis of neuro-Behçet disease: is it an immune regulator marker?

Frontiers in immunology2026

Neuro-Behçet's disease (NBD) is a severe neurological manifestation of Behçet's disease (BD), a multisystemic inflammatory vasculitis affecting multiple organs. NBD presents complex immunopathological features involving both innate and adaptive immune responses. CD39 (ectonucleoside triphosphate diphosphohydrolase-1, ENTPD1), an ectoenzyme expressed on various immune cells, has emerged as a critical regulator of inflammation through its role in hydrolyzing extracellular ATP to immunosuppressive adenosine. This mini-review explores the role of CD39 in modulating neuroinflammation in NBD, focusing on its function in immune cell subsets, its dual role in inflammation and regulation, and its potential as a therapeutic target. It synthesizes the role of CD39 in neuroinflammatory disorders, with a specific focus on Neuro-Behçet's Disease (NBD). We examine the dual role of CD39 expression in driving inflammation and immune regulation, and highlighting its potential as a therapeutic target.

#4

Hughes-Stovin syndrome without peripheral venous thrombosis: Early recognition and successful immunosuppressive management-A case report and brief literature review.

Respiratory medicine case reports2026

Hughes-Stovin syndrome (HSS) is an exceptionally rare and potentially life-threatening systemic vasculitis characterized by the coexistence of pulmonary artery aneurysms and venous thrombosis. Its striking clinical overlap with Behçet disease has led to ongoing debate regarding whether HSS constitutes a distinct disease entity or instead represents a vascular variant within the Behçet spectrum. In the absence of standardized diagnostic criteria, diagnosis relies primarily on clinical suspicion supported by radiologic evidence. Early identification is crucial, as rupture of pulmonary aneurysms is frequently fatal. We report a young male patient diagnosed with HSS who demonstrated favorable clinical and radiologic improvement following treatment with corticosteroids and mycophenolate mofetil. This case highlights the importance of considering HSS in young individuals presenting with unexplained pulmonary artery aneurysms, even in the absence of venous thrombosis. Prompt diagnosis, early initiation of immunosuppressive therapy, and coordinated multidisciplinary management are essential to mitigate the risk of catastrophic complications. This case is unusual in that HSS occurred in the absence of peripheral venous thrombosis and responded favorably to combined corticosteroid and mycophenolate mofetil therapy.

#5

Safety of Immune Checkpoint Inhibitors in Cancer Patients With Preexisting Autoimmune Vasculitis.

ACR open rheumatology2026 Mar

Immune checkpoint inhibitors (ICIs) are effective cancer therapies but often cause serious immune-related adverse events (irAEs). Patients with preexisting autoimmune diseases, including vasculitis, are excluded from trials. We aimed to evaluate the frequency, severity, and outcomes of vasculitis flares and irAEs in this population. We performed a retrospective review of cancer patients with prior vasculitis treated with ICIs at our institution and conducted a literature search for additional cases. Data included baseline features, vasculitis flares, irAEs, treatments, and tumor response. Twenty-five patients were identified (16 from our institution and 9 from the literature). Median age was 71 years; 13 (52%) were female. Vasculitis types included giant cell arteritis (GCA, n = 9), granulomatosis with polyangiitis (GPA, n = 8), eosinophilic granulomatosis with polyangiitis (EGPA, n = 2), leukocytoclastic vasculitis (n = 2), other cutaneous vasculitis (n = 2), and Henoch-Schönlein purpura and Behçet disease (1 each). Cancer types were diverse. Most patients received anti-programmed death-1 monotherapy (n = 17). Eight patients (31%) experienced a vasculitis flare after ICI initiation (2/9 GCA, 4/8 GPA, 2/4 cutaneous vasculitis). Flares occurred after a median of seven weeks. Treatment included glucocorticoids in seven patients, combined with biologic or cytotoxic agents depending on vasculitis type. Seven of eight flares resolved, and four patients continued ICI therapy. Three additional patients developed de novo irAEs: severe hepatitis (n = 1), grade 3 colitis (n = 1), and grade 3 autoimmune hemolytic anemia (n = 1), all improving with treatment. One patient with GCA died due to a flare; no deaths were attributed to de novo irAEs. Overall, more than one-third of patients achieved a favorable tumor response. Nearly one-third of patients with preexisting vasculitis experienced a disease flare during ICI therapy, with one fatal case. For most, outcomes were favorable with effective flare management. Preexisting vasculitis should not be considered an absolute contraindication for cancer immunotherapy with ICI.

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2026

CD39 in the pathogenesis of neuro-Behçet disease: is it an immune regulator marker?

Frontiers in immunology
2026

Hughes-Stovin syndrome without peripheral venous thrombosis: Early recognition and successful immunosuppressive management-A case report and brief literature review.

Respiratory medicine case reports
2026

Safety of Immune Checkpoint Inhibitors in Cancer Patients With Preexisting Autoimmune Vasculitis.

ACR open rheumatology
2026

Incidence and Prevalence of Non-Infectious Uveitis: A Systematic Review and Meta-Analysis.

Retina (Philadelphia, Pa.)
2026

A Case of Concurrent Behçet Disease and Erythema Multiforme in a Young Adult.

Cureus
2026

Exploratory whole-exome sequencing identifies candidate DNA variants in Ocular Behcet disease: a pilot study from a Pakistani cohort.

Ophthalmic genetics
2026

Association between Behçet disease and pregnancy-related outcomes: A systematic review and meta-analysis.

Journal of reproductive immunology
2026

Ustekinumab-associated morphoea: systematic review of the literature and a real-world case.

Drugs in context
2026

Unmasking Hemophagocytic Lymphohistiocytosis After Minimal Tumor Necrosis Factor-Alpha (TNF-α) Blockade: An Interplay of Contributing Elements.

Cureus
2026

A case of intestinal Behçet disease in a deceased donor kidney transplantation recipient.

Clinical transplantation and research
2026

The Impact of Vitreoretinal Surgery in Patients with Uveitis: Current Strategies and Emerging Perspectives.

Diagnostics (Basel, Switzerland)
2026

Behçet-like Syndromes: A Comprehensive Review.

Dermatopathology (Basel, Switzerland)
2026

Multiple cerebral venous thrombosis as the first presentation of Behçet syndrome: case report and literature review.

Irish journal of medical science
2026

Lactate dehydrogenase to albumin ratio as a convenient parameter for predicting the severity of Behçet disease: a cross-sectional study.

BMC immunology
2025

Management of Aortic Aneurysms Associated with Behçet Disease: A Single-Center Experience with Endovascular Repair.

Vascular specialist international
2026

Single-Cell Genetic Mapping of Gasdermin Expression Across Immune-Mediated Inflammatory Diseases.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2025

Clinical Implications of Vasculitis Associated with Familial Mediterranean Fever: A Comparative Study in Childhood.

Modern rheumatology
2025

[Role of the SII and SIRI in risk prediction, disease activity assessment, and prog-nostic evaluation of Behçet disease uveitis].

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences
2026

Aseptic pyomyositis in Behçet's disease: a case report and narrative review of muscle involvement phenotypes.

Neuromuscular disorders : NMD
2025

Monitoring Behçet uveitis.

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society
2025

Behçet disease: A unique systemic vasculitis with a distinct form of ocular involvement.

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society
2025

Behçet Disease and Cognitive Impairment: A Case Study of an Overlooked Symptom.

The American journal of case reports
2026

Effectiveness and Tolerability of Anti-Tumor Necrosis Factor Alpha Therapy in Refractory Intestinal Behçet's Disease: A Large Single-Center Study.

Gut and liver
2025

Rapidly progressive glucocorticoid-resistant childhood-primary angiitis of the central nervous system positive for HLA-B51 and A26: a case report.

Modern rheumatology case reports
2025

The MAGIC (Mouth and Genital Ulcers With Inflamed Cartilage) of VEXAS: A Case of Overlap Between Behçet Disease and VEXAS Syndrome.

The Journal of rheumatology
2025

Case Report: An endogenous endophthalmitis case caused by Haemophilus influenzae.

Frontiers in medicine
2026

Phenotypes of patients with more than one autoinflammatory disease-associated gene variant: overlapping and mixed autoinflammatory disorders.

Rheumatology (Oxford, England)
2026

Evaluation of predictors and clinical outcome after tapering of chronic systemic corticosteroids in Behçet's disease patients.

Clinical rheumatology
2026

Proton Pump Inhibitor Use and Its Significant Association With an Increased Incidence of Intestinal Behçet Disease.

The Journal of rheumatology
2025

Association Between Autoimmune Diseases, Treatments, and Dementia Risk: A Population-Based Case-Control Study From Taiwan.

The Journal of clinical psychiatry
2025

[Clinical characteristics of Behçet syndrome in 45 children].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
2025

Challenges in Diagnosing Non-Nasal Natural Killer/T-Cell Lymphoma Mimicking Behçet Disease: A Case Report.

The American journal of case reports
2025

A case of paracentral acute middle maculopathy and retinal vein occlusion: idiopathic occlusive retinal vasculitis or incomplete Behçet's disease?

BMC ophthalmology
2025

A case of Behçet disease complicated with multiple false aneurysms of the aorta.

Journal of vascular surgery
2025

Behçet Disease Uveitis: Insights into Epigenetic and Environmental Factors, Retinal Imaging, and Treatment.

Ocular immunology and inflammation
2025

Rare presentation of Behçet's disease in a 22-year-old male with combined retinal artery and vein occlusions.

American journal of ophthalmology case reports
2025

The relationship between NETosis findings and disease activity in Behçet's disease: an exploratory study.

Clinical and experimental rheumatology
2026

Clinical trials and quasi-experimental studies in the treatment of noninfectious retinal vasculitis: A systematic review from the International Uveitis Study Group (IUSG) Retinal Vasculitis Study (ReViSe) - Report 4.

Survey of ophthalmology
2025

The cascade sign in aquaporin-4-IgG positive (AQP4-IgG+) NMOSD.

Multiple sclerosis (Houndmills, Basingstoke, England)
2025

Canadian Rheumatology Association/Canadian Research Group of Rheumatology in Immuno-Oncology Living Guidelines for Baseline Immunosuppression in Individuals With Preexisting Rheumatic Diseases Initiating Immune Checkpoint Inhibitors. Part 2: Preexisting Systemic Autoimmune Rheumatic Diseases.

The Journal of rheumatology
2026

Comparative Real-World Effectiveness of Immunomodulatory Therapies for Prevention of Uveitis Relapse in Behçet Disease.

Arthritis &amp; rheumatology (Hoboken, N.J.)
2025

Integrated stress response in Behçet disease: expression analyses in peripheral blood and synovial monocytes.

Rheumatology international
2025

Vasculitis as an indicator of disease severity in familial Mediterranean fever.

Frontiers in immunology
2025

NSAID overuse leading to cardiac aneurysm: Unveiling a missed diagnosis of Behçet's disease: A case report.

Medicine
2025

Myelodysplastic Syndrome With Trisomy 8 and Behçet Disease-Like Intestinal and Upper Gastrointestinal Involvement.

Clinical case reports
2025

Atypical Presentation of Behçet Disease Unmasked by Acute Coronary Syndrome.

JACC. Case reports
2025

Epidemiology, Clinical Data, and Management of Aseptic Abscess Syndrome: Review of Published Cases Outside France.

Epidemiologia (Basel, Switzerland)
2026

Clinical Images: Syphilis as the great imitator; Behçet disease mimic.

Arthritis &amp; rheumatology (Hoboken, N.J.)
2025

Predictors of uveitic macular edema and functional prognostic outcomes: real-life data from the international AIDA Network uveitis registry.

Frontiers in medicine
2025

Inflammatory hematological ratios and subclinical microvascular changes of fundus in Behçet disease.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2025

Investigating the mediating effect of plasma metabolites on the gut microbiome in influencing Behçet disease: A multi-omics validated Mendelian randomization study.

Medicine
2025

Funnel-Shaped Vitreous Extension of Retinal Infiltrates in Behcet Disease.

Ophthalmology. Retina
2025

Renal artery thrombosis in Behçet's disease: Case report and literature review.

Medicine
2025

Stent-Assisted Coil Embolization of Multiple Intracranial Aneurysms Associated With Behçet Disease.

The Journal of craniofacial surgery
2025

Examining Sirtuin-1 Levels and Inflammation Markers in Behcet's Disease: A Pilot Study.

Archives of rheumatology
2025

Clinical characteristics of behçet's disease in palestine, a retrospective cohort study.

BMC rheumatology
2025

ASSESSMENT OF CLINICAL FEATURES AND PROGNOSIS IN BEHÇET DISEASE PATIENTS WITH OCULAR MANIFESTATIONS: A Focus on Optical Coherence Tomography and Angiography.

Retina (Philadelphia, Pa.)
2026

Clinical Images: Appendix vasculitis in a patient with intestinal Behçet disease.

Arthritis &amp; rheumatology (Hoboken, N.J.)
2025

Acute Cardiogenic Shock Secondary to Left Main Occlusion in a Patient with Behçet Disease.

JACC. Case reports
2025

Pulmonary Artery Involvement and Parenchymal Lung Changes in Behçet Disease: A Comparative Cohort Thoracic Computed Tomography Imaging Study.

Journal of clinical rheumatology : practical reports on rheumatic &amp; musculoskeletal diseases
2025

A life-threatening discovery: How hematemesis unveiled a splenic artery aneurysm in Behçet's disease.

Vascular diseases (Paris, France)
2025

Giant Aortic Aneurysm in Refractory Behçet's Disease Shrank with Tocilizumab Treatment: A Case Report.

ACR open rheumatology
2025

OCTA measurements in Behcet's disease across different stages of the disease activity: A systematic review and meta-analysis.

PloS one
2025

The Immunopathogenesis of Adamantiades-Behçet Uveitis: Advances in Understanding of Genetics and Molecular Mechanisms.

International ophthalmology clinics
2025

INVESTIGATE THE CHANGE OF CHOROIDAL THICKNESS IN PATIENTS WITH COMMON SYSTEMIC AUTOIMMUNE DISEASES: A Review.

Retina (Philadelphia, Pa.)
2025

Uncommon Non-MS Demyelinating Disorders of the Central Nervous System.

Current neurology and neuroscience reports
2025

Neurological Behcet's disease with transverse myelitis in an adolescent: A case report.

SAGE open medical case reports
2025

Thermal Imaging-Guided Surgical Unroofing of a Myocardial Bridge in a Patient With Refractory Angina.

JACC. Case reports
2026

Clinicodemographic Data of Patients with Behçet's Disease: Data from a Tertiary Center in Saudi Arabia.

Current rheumatology reviews
2025

Sleep and circadian parameters in Behçet's syndrome: a comparative analysis using actigraphy and questionnaires.

Rheumatology (Oxford, England)
2025

Serum immunoreactivity to neurofilament-medium shows high sensitivity and specificity in patients with Behçet disease.

RMD open
2025

A 30-year experience in neuro-Behçet disease.

Journal of neuroimmunology
2025

Seeking Clarity in the Muddy Waters of Vascular Behçet Management.

European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery
2025

Long Term Outcomes of Open or Endovascular Treatment for Arterial Manifestations in Behçet Disease.

European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery
2025

Selective immunoglobulin E deficiency and its association with autoimmune and autoinflammatory diseases.

Allergy and asthma proceedings
2025

Expression of miR-127 and miR-29 in Egyptian patients with Behçet disease and its clinical significance and relationship with disease activity.

Clinical rheumatology
2025

Low IL-35 expression in CSF is associated with Neuro-Behcet Disease: Comparative analysis between parenchymal and Non-parenchymal NBD.

Immunology letters
2025

Clinical features and differential diagnosis in symptomatic localized terminal ileitis or ulcer.

Medicine
2025

Identification of markers predicting clinical course in patients with Behcet disease by combination of machine learning and unbiased clustering analysis.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2025

Risk of Autoimmune Rheumatic Diseases in Multiple Sclerosis and Neuromyelitis Optica Spectrum Disorder: A Nationwide Cohort Study in South Korea.

Mayo Clinic proceedings
2025

Ophthalmic Posterior Segment OCTA Metrics as Potential Biomarkers for Systemic Involvement in Systemic Sclerosis, Systemic Lupus Erythematosus, and Behçet Disease: A Systematic Review.

Open access rheumatology : research and reviews
2025

Serum levels of miR-34, miR-182 and miR-378 as novel diagnostic biomarkers in Behçet patients and their relation to disease activity and severity.

Archives of physiology and biochemistry
2025

Severe Alveolar Bone Loss as a Rare Manifestation of Suspected Intestinal Behçet Disease: A Case Report.

Mayo Clinic proceedings. Innovations, quality &amp; outcomes
2025

Changes in the metabolome, lipidomein, and gut microbiota in Behçet's disease.

Frontiers in cell and developmental biology
2025

Patients with vasculitis present a poor oral health: results of the online cross-sectional survey from Canada (VASC-TOOTH Survey).

Rheumatology international
2025

Herpetiform ulceration in Behçet disease.

CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne
2025

Early atypical MRI findings in a pediatric patient with Neuro-Behçet's disease.

BMC neurology
2025

Intracardiac Thrombus Resulting in Multiple Cardiovascular Complications as a Manifestation of Behçet Disease: A Case Report.

CJC open
2025

Highlights from the breakout session: management of special situations in systemic vasculitis.

Rheumatology (Oxford, England)
2025

Endomyocardial Fibrosis Mimicking a Heart Tumor and Dysplastic Tricuspid Valve in a Teenager: A Rare Cardiac Manifestation of Behçet Disease.

Circulation. Cardiovascular imaging
2024

Turmeric-Induced Liver Injury.

Journal of Brown hospital medicine
2025

Frosted branch angiitis post COVID vaccine: A presumptive association with Behçet's disease.

European journal of ophthalmology
2025

Therapeutic Potential of Janus Kinase Inhibitors for Treating Refractory Behçet Disease.

Journal of clinical rheumatology : practical reports on rheumatic &amp; musculoskeletal diseases
2025

Global demographic and etiological variations of retinal vasculitis: A systematic review and meta-analysis: International Uveitis Study Group (IUSG) Retinal Vasculitis Study (ReViSe) Report 1.

Survey of ophthalmology
2024

Behcet syndrome: A rare cause of recurrent genital ulceration.

Indian journal of sexually transmitted diseases and AIDS
2025

Imaging of Pulmonary Vasculitis.

Radiologic clinics of North America
2024

Case report: Adult case of A20 haploinsufficiency suspected as neuro-Behçet disease.

Frontiers in immunology
2025

Neuro-Behcet's Masquerading as Status Epilepticus and Meningoencephalitis in the Emergency Department.

The Journal of emergency medicine
2025

Accuracy and Performance Characteristics of Administrative Codes for the Diagnosis of Autoinflammatory Syndromes: A Discovery and Validation Study.

Journal of clinical rheumatology : practical reports on rheumatic &amp; musculoskeletal diseases
2025

Acute macular neuroretinopathy occurrence in a Behçet disease patient: a case report.

Journal of ophthalmic inflammation and infection
2025

Teaching NeuroImage: Atypical Presentation of HLA-B51 Positive Neuro-Behçet Disease in a 27-Year-Old Patient: The Waterfall Sign.

Neurology
2024

[Clinical significance of antiphospholipid antibodies in Behcet disease with thrombosis].

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences
2024

Comparative Study of Adalimumab, Infliximab and Certolizumab Pegol in the Treatment of Cystoid Macular Edema Due to Behçet's Disease.

Journal of clinical medicine
2025

Behcet disease presenting as large and medium vessel occlusive disease.

Indian journal of thoracic and cardiovascular surgery
2025

Contraceptives or Hormone Replacement Therapy and Associations with Autoimmune Conditions: Exploring Effects of Estrogen Analog Supplementation.

ACR open rheumatology
2024

Uveitis in paediatric Behçet disease: a large multicentric Italian cohort.

Therapeutic advances in musculoskeletal disease
2025

Functional and anatomic outcomes of pars plana vitrectomy for macular holes in ocular Behçet's disease.

Journal francais d'ophtalmologie
2025

Neuro-Behçet leading to coma: A case report.

Radiology case reports
2024

Long-Term Risk of Autoimmune and Autoinflammatory Connective Tissue Disorders Following COVID-19.

JAMA dermatology
2025

Vasculo-Behçet disease with venous thromboembolism successfully treated with direct oral anticoagulants: A literature review.

The Journal of dermatology
2025

Intestinal vascular diseases misdiagnosed as Crohn ​disease: analysis of 13 cases.

Pathology
2025

"Lupus Myelitis" Revisited: A Retrospective Single-Center Study of Myelitis Associated With Rheumatologic Disease.

Neurology(R) neuroimmunology &amp; neuroinflammation
2024

Rheumatic diseases detected in patients presenting with uveitis.

Northern clinics of Istanbul
2025

An Australian Shepherd with possible Behçet-like disease characterized by cutaneous and intestinal vasculitis leading to septic abdomen.

Journal of the American Veterinary Medical Association
2024

The Current and Novel Imaging Modalities for Ocular Vasculitis in Behcet's Disease: A Review.

Cureus
2024

Internal Jugular Vein Thrombosis as the Initial Presentation of Antiphospholipid Antibody-positive Vascular Behçet Disease: A Clinical Image.

Journal of community hospital internal medicine perspectives
2024

Enigmatic odyssey: A case of Behcet disease with atypical thrombotic complications.

International journal of surgery case reports
2024

Cytokine Signature Differences in Major Phenotypic Groups of Behçet Disease.

Journal of clinical rheumatology : practical reports on rheumatic &amp; musculoskeletal diseases
2024

Successful treatment of Sweet syndrome complicated by Behcet disease with adalimumab.

Pediatrics international : official journal of the Japan Pediatric Society
2024

Neuro-Behçet Disease Presenting as a Bulbar Lesion: A Case Report.

Cureus
2024

Multiple Conjunctival Ulcers in Behçet Disease.

Journal of clinical rheumatology : practical reports on rheumatic &amp; musculoskeletal diseases
2024

The association between Behçet disease activity and elevated systemic immune-inflammation index: A retrospective observational study in a tertiary care hospital.

The National medical journal of India
2024

Severe sepsis induced by zoledronic acid: A case report.

Medicine
2024

Evaluation of right ventricular function in patients with Behcet's disease by four-dimensional echocardiography.

Echocardiography (Mount Kisco, N.Y.)
2025

Severe Occlusive Retinal Vasculitis in an Immunocompetent Patient with Chronic CMV Anterior Uveitis.

Ocular immunology and inflammation
2024

Behçet disease: epidemiology, classification criteria and treatment modalities.

Expert review of clinical immunology
2024

Association Between Proton Pump Inhibitors and the Risk of Intestinal Behçet Disease.

The Journal of rheumatology
2024

Biology of HLA class I associated inflammatory diseases.

Best practice &amp; research. Clinical rheumatology
2025

Saliva assay: a call for methodological standardization.

Journal of periodontal &amp; implant science
2024

The clinical manifestations and treatment outcomes of Behçet's disease: A single-center experience.

Health science reports
2024

Treatment of Behçet disease with oral roflumilast: an observational study.

Clinical and experimental dermatology
2024

Successful Intrasaccular Microcoil Embolization of a Lower Segment Pulmonary Artery Aneurysm in a Patient With Behcet's Disease.

Cureus
2024

Intestinal ultrasound for intestinal Behçet disease reflects endoscopic activity and histopathological findings.

Intestinal research
2024

Application of Ophthalmic Electrophysiology in Inflammatory Disorders of Retina and Optic Nerve.

Journal of clinical medicine
2024

Exploring Headaches in Pediatric Behçet Disease: Prevalence, Clinical Impact, and Management.

Journal of clinical medicine
2024

Surgical Intervention for Giant Pulmonary Artery Aneurysm in Behcet Disease: A Case Report.

The American journal of case reports
2024

Whole phenotype of patients with systemic sclerosis and sicca manifestations: Comparison with sicca manifestations from other causes.

Seminars in arthritis and rheumatism
2024

Recurrent Oral Ulcers: Are They Horses or Zebras?

Cureus
2024

Increased Risk of Preterm Delivery Subtypes and Hypertensive Disorders of Pregnancy in First Deliveries of Patients With Systemic Vasculitis.

ACR open rheumatology
2024

Role of Optical Coherence Tomography in Vasculitis-Associated Pulmonary Hypertension and Chronic Thromboembolic Pulmonary Hypertension.

Circulation journal : official journal of the Japanese Circulation Society
2024

Neuro-Behçet's disease: A review.

La Revue de medecine interne
2024

Recurring ST-Elevation Myocardial Infarction With No-Reflow Caused by Hypercoagulable State: A Behcet Disease Case Report.

Journal of clinical medicine research
2024

The Spectrum of Papillophlebitis.

Ocular immunology and inflammation
2024

Exploring Reproductive Experiences With Women Enrolled in the International Vasculitis Pregnancy Registry.

The Journal of rheumatology
2024

Association of high disease activity and serum IL-6 levels with the incidence of inflammatory major organ events in Behçet disease: a prospective registry study.

Frontiers in immunology
2024

Neuro-Behcet's Disease and Its Association With Cerebral Aneurysms and Subarachnoid Hemorrhage: A Case Report.

Cureus
2024

Immune Ataxias: The Continuum of Latent Ataxia, Primary Ataxia and Clinical Ataxia.

Journal of integrative neuroscience
2024

Increased IL-22 in cerebrospinal fluid of neuro-behçet's disease patients.

Cytokine
2025

Value of Serum Asymmetric Dimethylarginine (ADMA) As a Novel Biomarker for Uveitis in Behçet's Disease.

Ocular immunology and inflammation
2024

The Frequency of Intraocular Pressure Elevation, Incidence of Secondary Glaucoma, and Surgical Treatment With Postoperative Complications in Pediatric and Adult Patients With Uveitis.

Cureus
2024

The clinical and radiological features and prevalence of Neuro-Behçet's Disease: A retrospective cohort multicenter study in Saudi Arabia.

Multiple sclerosis and related disorders
2023

A Rare but Fatal Behçet Variant: The Hughes-Stovin Syndrome-Successful Case Report and New Evidence from Literature Review.

Aorta (Stamford, Conn.)
2024

A Case Report of Neuro-Behçet Syndrome: Frequent Neurological Manifestations Concurrent With Life-Threatening Illnesses.

Cureus
2024

Folliculitis might be associated with pathergy-positivity in patients with Behçet syndrome.

Medicine
2024

Frosted branch angiitis in Behcet disease.

QJM : monthly journal of the Association of Physicians
2024

Mortality landscape of Behçet disease.

The British journal of dermatology
2024

Revealing Academic Evolution and Frontier Pattern in the Field of Uveitis Using Bibliometric Analysis, Natural Language Processing, and Machine Learning.

Ocular immunology and inflammation
2024

Pediatric Neutrophilic Dermatoses.

Dermatologic clinics
2024

Characterization and Management of Amicrobial Pustulosis of the Folds, Aseptic Abscess Syndrome, Behçet Disease, Neutrophilic Eccrine Hidradenitis, and Pyostomatitis Vegetans-Pyodermatitis Vegetans.

Dermatologic clinics
2024

Behçet Disease Periaortic Pseudoaneurysms Connect with Pulmonary Artery.

Radiology
2024

Maternal and fetal outcomes of pregnancy in women with primary systemic vasculitis: A single-center cohort study of 20 patients and 30 pregnancies.

Seminars in arthritis and rheumatism
2024

HLA-B*51 Frequency in Transplant Patients and Donors.

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation
2024

Effect of adalimumab on choroidal thickness and choroidal vascularity index in eyes with non-infectious uveitis using enhanced-depth imaging optical coherence tomography.

Eye (London, England)
2024

Neuro-Behçet Disease Presenting with Wall-Eyed Bilateral Internuclear Ophthalmoplegia Syndrome: A Case Report.

Korean journal of ophthalmology : KJO
2024

Behcet disease: A case report on the utilization of T1-weighted black blood fat-suppressed sequences for the detection of venous vasculitis.

Clinical case reports
2024

Innominate artery aneurysm in behcet disease; report of one case.

International journal of surgery case reports
2024

All-cause and cause-specific mortality in patients with Behçet disease versus the general population.

The British journal of dermatology
2024

Clinical and anamnestic features of patients with systemic vasculitis: a single-center retrospective study.

Rheumatology international
2024

IL-38 in Behçet's disease: Gene expression in bronchoalveolar lavage from patients having pulmonary involvement.

Immunology letters
2023

Ulcus Vulvae Acutum Lipschütz-UVAL: case series at a Swiss university hospital emergency room.

Frontiers in reproductive health
2023

Hughes-Stovin Syndrome: A Case Report on a Rare, Life-Threatening Vasculitis.

Mediterranean journal of rheumatology
2024

[Translated aticle] Topical and Oral Roflumilast in Dermatology: A Narrative Review.

Actas dermo-sifiliograficas
2024

[Diagnostic modalities of a Behçet uveitis].

Revue medicale de Liege
2024

Association of endomyocardial fibrosis and minor myocarditis sequelae with intracardiac thrombus and Ebstein like valvulopathy in a patient with Behçet disease: a case report.

European heart journal. Case reports
2023

Amyloid Goiter Secondary to Behcet's Disease: A Case Report and Literature Review.

Cureus
2023

Pulmonary Artery Aneurysm in Behcet Disease: Medical, Endovascular or Surgical Intervention.

Cureus
2023

Recurrent Stroke as a First Presentation in Behçet Disease: A Case Report.

Cureus
2023

Recent Advances in Immune-Mediated Cerebellar Ataxias: Pathogenesis, Diagnostic Approaches, Therapies, and Future Challenges-Editorial.

Brain sciences
2024

Life-Threatening Involvement of Bilateral Pulmonary Arteries in Behçet Disease on FDG PET.

Clinical nuclear medicine
2023

Thoughts and Experiences of Behçet Disease From Participants on a Reddit Subforum: Qualitative Online Community Analysis.

JMIR formative research
2023

Osteonecrosis as a rare musculoskeletal complication in Behcet's disease- the largest case series with literature review.

BMC rheumatology
2023

Resuming anti-TNF therapy after development of miliary tuberculosis in Behcet's disease-related uveitis: a case report.

Journal of ophthalmic inflammation and infection
2023

Ocular involvement in pediatric Behçet's disease: is it different than in adults? (a short case series and mini review).

BMC ophthalmology
2024

Association of IL-23R and IL-10 variations with Behçet disease: a genetic analysis study.

Immunologic research
2023

Refractory Intestinal Behçet-Like Disease Associated with Trisomy 8 Myelodysplastic Syndrome Resolved by Parenteral Nutrition.

Case reports in gastroenterology
2023

Epidemiology of Pediatric Uveitis.

Ocular immunology and inflammation
2024

Surgical intervention and management of Behcet disease with perianal abscess: A case report.

Asian journal of surgery
2023

Neuro-Behçet With a Thalamic Lesion: A Case Report.

Cureus
2024

Central retinal artery occlusion after spinal surgery: Case report and literature review.

European journal of ophthalmology
2023

Ileocecal involvement in intestinal Behçet's disease and Crohn's disease: comparison of clinicopathological and immunophenotypic features.

Journal of digestive diseases
2024

Neurologic manifestations of Behçet disease: rheumatology experience.

Zeitschrift fur Rheumatologie
2024

Indications for Magnetic Resonance Imaging in Patients With Behcet Uveitis.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
2023

Inferior Vena Cava Thrombosis and Pulmonary Embolism in a Patient With Behcet Disease: A Rare Presentation.

Cureus
2023

Diagnosis and management of Neuro-Behçet disease with isolated intracranial hypertension: a case report and literature review.

BMC neurology
2024

Choroidal vascularity index and submacular choroidal thickness in patients with Behçet disease assessed with enhanced-depth OCT.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
2023

HLA Alleles in a Behçet Disease Multiethnic Population With and Without Ophthalmic Manifestations.

Journal of clinical rheumatology : practical reports on rheumatic &amp; musculoskeletal diseases
Ver todos os 1.158 no EuropePMC

Associações

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Comunidades

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Multiple cerebral venous thrombosis as the first presentation of Beh&#xe7;et syndrome: case report and literature review.
    Irish journal of medical science· 2026· PMID 41528674mais citado
  2. Effectiveness and Tolerability of Anti-Tumor Necrosis Factor Alpha Therapy in Refractory Intestinal Beh&#xe7;et's Disease: A Large Single-Center Study.
    Gut and liver· 2026· PMID 41306097mais citado
  3. CD39 in the pathogenesis of neuro-Beh&#xe7;et disease: is it an immune regulator marker?
    Frontiers in immunology· 2026· PMID 41878442mais citado
  4. Hughes-Stovin syndrome without peripheral venous thrombosis: Early recognition and successful immunosuppressive management-A case report and brief literature review.
    Respiratory medicine case reports· 2026· PMID 41808877mais citado
  5. Safety of Immune Checkpoint Inhibitors in Cancer Patients With Preexisting Autoimmune Vasculitis.
    ACR open rheumatology· 2026· PMID 41792579mais citado
  6. Recurrent Stroke Presentation in Neuro-Behcet Disease: Clinical Insights from a Case Report.
    Cureus· 2026· PMID 41959954recente
  7. CARD8 variant-mediated inflammasome activation in a case of refractory Behçet disease: from PFAPA to atypical neurovascular involvement.
    Rheumatology (Oxford)· 2026· PMID 41949859recente
  8. Age-Related Differences in the Etiology and Clinical Characteristics of Uveitis in Japan: A Retrospective Comparative Study.
    Ocul Immunol Inflamm· 2026· PMID 41943916recente
  9. Stroke in autoimmune rheumatic diseases.
    Rheumatol Int· 2026· PMID 41936645recente
  10. Five children with haploinsufficiency of A20 caused by heterozygous mutations in the TNFAIP3 gene.
    Front Immunol· 2026· PMID 41890736recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:117(Orphanet)
  2. OMIM OMIM:109650(OMIM)
  3. MONDO:0007191(MONDO)
  4. Doenca de Behcet(PCDT · Ministério da Saúde)
  5. GARD:848(GARD (NIH))
  6. Variantes catalogadas(ClinVar)
  7. Busca completa no PubMed(PubMed)
  8. Artigo Wikipedia(Wikipedia)
  9. Q911427(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Doença de Behçet
Compêndio · Raras BR

Doença de Behçet

ORPHA:117 · MONDO:0007191
🇧🇷 Brasil SUS
Geral
Prevalência
1-9 / 100 000
Herança
Multigenic/multifactorial
CID-10
M35.2 · Doença de Behçet
CID-11
Ensaios
5 ativos
Início
Adolescent, Adult, Childhood
Prevalência
5.2 (United States)
MedGen
UMLS
C0004943
EuropePMC
Wikidata
Wikipedia
Papers 10a
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