Raras
Buscar doenças, sintomas, genes...
Artrite juvenil idiopática de início sistêmico
ORPHA:85414CID-10 · M08.2CID-11 · FA24.4DOENÇA RARA

A Artrite Idiopática Juvenil Sistêmica é marcada pela gravidade dos sintomas que aparecem fora das articulações (como febre e manchas na pele) e por afetar igualmente meninos e meninas.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A Artrite Idiopática Juvenil Sistêmica é marcada pela gravidade dos sintomas que aparecem fora das articulações (como febre e manchas na pele) e por afetar igualmente meninos e meninas.

Pesquisas ativas
9 ensaios
54 total registrados no ClinicalTrials.gov
Publicações científicas
293 artigos
Último publicado: 2026 Apr

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
3.1
Worldwide
Início
Childhood
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: M08.2
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

🫃
Digestivo
3 sintomas
❤️
Coração
2 sintomas
🛡️
Imunológico
2 sintomas
🦴
Ossos e articulações
2 sintomas
🫘
Rins
1 sintomas
🧬
Pele e cabelo
1 sintomas

+ 9 sintomas em outras categorias

Características mais comuns

90%prev.
Artrite
Muito frequente (99-80%)
90%prev.
Artralgia
Muito frequente (99-80%)
90%prev.
Erupção cutânea
Muito frequente (99-80%)
90%prev.
Autoimunidade
Muito frequente (99-80%)
90%prev.
Artrite reumatoide juvenil
Muito frequente (99-80%)
90%prev.
Concentração elevada de proteína C-reativa circulante
Muito frequente (99-80%)
22sintomas
Muito frequente (9)
Frequente (1)
Ocasional (12)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 22 características clínicas mais associadas, ordenadas por frequência.

ArtriteArthritis
Muito frequente (99-80%)90%
ArtralgiaArthralgia
Muito frequente (99-80%)90%
Erupção cutâneaSkin rash
Muito frequente (99-80%)90%
AutoimunidadeAutoimmunity
Muito frequente (99-80%)90%
Artrite reumatoide juvenilJuvenile rheumatoid arthritis
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico293PubMed
Últimos 10 anos121publicações
Pico202118 papers
Linha do tempo
2026Hoje · 2026🧪 1996Primeiro ensaio clínico📈 2021Ano 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

4 genes identificados com associação a esta condição. Padrão de herança: Multigenic/multifactorial, Unknown.

MIFAnti-Muellerian hormoneMajor susceptibility factor inTolerante
FUNÇÃO

The anti-Muellerian hormone (AMH) plays an important role in several reproductive functions (PubMed:14742691, PubMed:34155118, PubMed:3754790, PubMed:8469238). Anti-Muellerian hormone binds and activates AMHR2, its specific type-II receptor, that heterodimerizes with type-I receptors (ACVR1 and BMPR1A) to regulate target gene expression through downstream SMAD protein signal transduction (PubMed:20861221, PubMed:34155118). Produced and secreted by Sertoli cells of the male fetus, anti-Muellerian

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (2)
Cell surface interactions at the vascular wallNeutrophil degranulation
MECANISMO DE DOENÇA

Persistent Muellerian duct syndrome 1

A form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males.

EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
29.1 TPM
Cerebelo
21.8 TPM
Cérebro - Hemisfério cerebelar
20.5 TPM
Córtex cerebral
5.6 TPM
Próstata
5.6 TPM
OUTRAS DOENÇAS (3)
systemic-onset juvenile idiopathic arthritiscystic fibrosisjuvenile idiopathic arthritis
HGNC:7097UniProt:P03971
HLA-DRB1HLA class II histocompatibility antigen, DRB1 beta chainMajor susceptibility factor inRestrito
FUNÇÃO

A beta chain of antigen-presenting major histocompatibility complex class II (MHCII) molecule. In complex with the alpha chain HLA-DRA, displays antigenic peptides on professional antigen presenting cells (APCs) for recognition by alpha-beta T cell receptor (TCR) on HLA-DRB1-restricted CD4-positive T cells. This guides antigen-specific T-helper effector functions, both antibody-mediated immune response and macrophage activation, to ultimately eliminate the infectious agents and transformed cells

LOCALIZAÇÃO

Cell membraneEndoplasmic reticulum membraneLysosome membraneLate endosome membraneAutolysosome membrane

VIAS BIOLÓGICAS (7)
Generation of second messenger moleculesTranslocation of ZAP-70 to Immunological synapsePhosphorylation of CD3 and TCR zeta chainsCo-inhibition by PD-1Downstream TCR signaling
EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
1832.6 TPM
Pulmão
1234.8 TPM
Baço
990.6 TPM
Intestino delgado
607.2 TPM
Nervo tibial
598.3 TPM
OUTRAS DOENÇAS (16)
narcolepsy-cataplexy syndromefollicular lymphomaVogt-Koyanagi-Harada diseasepediatric multiple sclerosis
HGNC:4948UniProt:P01911
LACC1Purine nucleoside phosphorylase LACC1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Purine nucleoside enzyme that catalyzes the phosphorolysis of adenosine, guanosine and inosine nucleosides, yielding D-ribose 1-phosphate and the respective free bases, adenine, guanine and hypoxanthine (PubMed:31978345). Also catalyzes the phosphorolysis of S-methyl-5'-thioadenosine into adenine and S-methyl-5-thio-alpha-D-ribose 1-phosphate (PubMed:31978345). Also has adenosine deaminase activity (PubMed:31978345). Acts as a regulator of innate immunity in macrophages by modulating the purine

LOCALIZAÇÃO

CytoplasmNucleusEndoplasmic reticulumPeroxisome

MECANISMO DE DOENÇA

Juvenile arthritis

A rare, familial form of juvenile arthritis characterized by autosomal recessive inheritance and onset in early childhood of symmetric, chronic joint inflammation. It causes joint swelling, pain, stiffness and restricted joint movement. JUVAR has high clinical variability. Some patients exhibit systemic symptoms, including quotidian fever, erythematous rash, generalized lymphadenopathy, hepatomegaly, and/or splenomegaly. Others display polyarthritis without systemic inflammation.

EXPRESSÃO TECIDUAL(Ubíquo)
Brain Spinal cord cervical c-1
14.4 TPM
Substância negra
12.1 TPM
Testículo
11.5 TPM
Fibroblastos
10.3 TPM
Hipocampo
9.7 TPM
INTERAÇÕES PROTEICAS (4)
OUTRAS DOENÇAS (2)
juvenile arthritis due to defect in LACC1systemic-onset juvenile idiopathic arthritis
HGNC:26789UniProt:Q8IV20
IL6Interleukin-6Major susceptibility factor inRestrito
FUNÇÃO

Cytokine with a wide variety of biological functions in immunity, tissue regeneration, and metabolism. Binds to IL6R, then the complex associates to the signaling subunit IL6ST/gp130 to trigger the intracellular IL6-signaling pathway (Probable). The interaction with the membrane-bound IL6R and IL6ST stimulates 'classic signaling', whereas the binding of IL6 and soluble IL6R to IL6ST stimulates 'trans-signaling'. Alternatively, 'cluster signaling' occurs when membrane-bound IL6:IL6R complexes on

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (9)
MAPK3 (ERK1) activationMAPK1 (ERK2) activationInterleukin-6 signalingTranscriptional Regulation by VENTXSenescence-Associated Secretory Phenotype (SASP)
MECANISMO DE DOENÇA

Rheumatoid arthritis systemic juvenile

An inflammatory articular disorder with systemic onset beginning before the age of 16. It represents a subgroup of juvenile arthritis associated with severe extraarticular features and occasionally fatal complications. During active phases of the disorder, patients display a typical daily spiking fever, an evanescent macular rash, lymphadenopathy, hepatosplenomegaly, serositis, myalgia and arthritis.

EXPRESSÃO TECIDUAL(Ubíquo)
Adipose Visceral Omentum
54.4 TPM
Pulmão
29.6 TPM
Fallopian Tube
13.6 TPM
Mama
13.1 TPM
Tecido adiposo
11.8 TPM
OUTRAS DOENÇAS (7)
systemic-onset juvenile idiopathic arthritisinflammatory bowel disease 1Kaposi sarcoma, susceptibility toarteriovenous malformations of the brain
HGNC:6018UniProt:P05231

Variantes genéticas (ClinVar)

118 variantes patogênicas registradas no ClinVar.

🧬 IL6: GRCh37/hg19 7p22.3-14.3(chr7:158725-29918785)x3 ()
🧬 IL6: GRCh37/hg19 7p21.1-15.3(chr7:18093509-25363633)x1 ()
🧬 IL6: GRCh37/hg19 7p21.2-15.2(chr7:16417575-27541028)x3 ()
🧬 IL6: GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1 ()
🧬 IL6: GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1 ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
Aprovado1
3Fase 37
2Fase 23
1Fase 13
·Pré-clínico6
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 20 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Artrite juvenil idiopática de início sistêmico

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

7 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

54 ensaios clínicos encontrados, 9 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
122 papers (10 anos)
#1

Systemic Onset Juvenile Idiopathic Arthritis in Sickle Cell Anaemia: A Diagnostic Odyssey.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion2026 Jan
#2

An abnormal immune response masquerading as infectious conditions.

SAGE open medical case reports2026

Kikuchi-Fujimoto disease (KFD) is a rare, benign, self-limited lymphadenitis most commonly affecting children and young adults, particularly females of Asian descent. Its etiology is unclear but is thought to involve immune dysregulation triggered by infection. We report a 14-year-old South Asian female presenting with 8 days of high fever, frontal headache, bilateral eye redness, transient arthralgias, and palpable lymphadenopathy in the cervical, axillary, and supraclavicular regions. Her history included recent travel to multiple countries and a prior episode of fever of unknown origin attributed to Bartonella. Initial laboratory evaluation revealed pancytopenia, elevated transaminases, and increased erythrocyte sedimentation rate and lactate dehydrogenase with normal C reactive protein. Infectious workup was negative for malaria, cytomegalovirus, West Nile virus, Rickettsia, Bartonella, and dengue. Ultrasound of the left axilla and computed tomography showed bilateral axillary lymphadenopathy. A cytokine panel demonstrated markedly elevated IL-18. Definitive diagnosis was established by axillary lymph node biopsy, which revealed histiocytic necrotizing lymphadenitis consistent with KFD. Systemic inflammatory disorders such as systemic-onset juvenile idiopathic arthritis, multisystem inflammatory syndrome in children, and Kawasaki disease were considered and excluded based on clinical, laboratory, and histopathological findings. The patient's fever resolved after dexamethasone administration, supporting an immune-mediated process. She subsequently developed recurrent fever, rash, and oral ulcers, which responded rapidly to intravenous corticosteroids, followed by a steroid taper.

#3

Rescue Therapy With Continuous Intravenous Anakinra Infusion and Plasma Exchange in Refractory Cytokine Storm of Systemic JIA: A Case Report.

Case reports in pediatrics2025

Macrophage activation syndrome (MAS) is one of the most common fatal complications of inflammatory diseases in children. In recent studies, Interleukin 1 inhibitors have been shown to be effective in suppressing the cytokine storm in MAS. There is limited literature describing the role of plasmapheresis in the cytokine storm syndromes as in MAS. A six-year-old boy presented with a 1-month history of daily fever, arthritis, cervical lymphadenopathy, skin rash, and elevated inflammatory markers. After multidisciplinary evaluation, he was diagnosed with systemic onset Juvenile Idiopathic Arthritis (sJIA) and started on IV methylprednisolone and SC anakinra. He later developed status epilepticus, required intubation, and progressed to multiorgan failure, needing inotropes and dialysis. Following a brief afebrile period, he worsened again, and labs confirmed MAS relapse with ferritin levels peaking at 26,000. Escalated treatment included switching to IV continuous anakinra, adding ciclosporin, and starting plasmapheresis. After three sessions of plasma exchange, he significantly improved, was extubated, and weaned off inotropes. However, attempts to switch anakinra back to SC failed twice, with recurrence of fever, rash, and elevated ferritin. He remained in PICU on IV continuous anakinra for over 3 weeks. When ferritin dropped to 900, an IV bolus regimen was trialed for a week, followed by a successful switch to SC anakinra. The child was discharged home asymptomatic with normalized labs. Anakinra has been used off-label in critically ill patients with MAS, thrombocytopenia, subcutaneous edema, and neurological dysfunction. Tapering from intravenous Anakinra to subcutaneous was challenging. This case taught us that tapering must begin at the right time to avoid hiccups or unfavorable outcomes. As reported in a few studies, plasmapheresis combined with immunosuppressants can reduce MAS-associated mortality by rapidly removing cytokines from the body.

#4

Tofacitinib as an adjuvant treatment for pediatric Still's disease.

Frontiers in pediatrics2025

To describe the efficacy and safety of tofacitinib for pediatric Still's disease, also referred to as systemic-onset juvenile idiopathic arthritis (sJIA). Traditional non-biological drugs and drugs targeting the interleukin-1 and interleukin-6 pathways benefit some patients, but others show inadequate responses. We retrospectively analyzed ten patients with pediatric Still's disease who were treated with tofacitinib and had at least one follow-up visit. Data on patient history, laboratory findings, and treatments were collected at disease onset, at the initiation of tofacitinib, and during follow-up. Tofacitinib led to complete remission in six patients, partial remission in three patients, and loss of efficacy in one patient. Among the nine patients with remission, two discontinued corticosteroids entirely and seven used lower dosages of corticosteroids; these patients also used fewer concurrent medications (1 or 2) after tofacitinib initiation. The one patient who experienced loss of efficacy continued to require a higher dosage of corticosteroids and received five different additional medications. The other nine patients received tocilizumab and had a decreased frequency of these injections after tofacitinib initiation. Tofacitinib was well-tolerated, with only one reported instance of an upper respiratory tract infection. Tofacitinib appears to be an effective adjunct therapy for management of pediatric Still's disease, particularly for patients with unstable clinical conditions and adverse reactions to corticosteroids.

#5

Acute lymphoblastic leukaemia presenting as chronic recurrent multifocal osteomyelitis.

BMJ case reports2025 Apr 07

A pre-schooler, born out of a non-consanguineous marriage, presented with on-and-off fever for 9 months, fleeting large joint swelling involving multiple joints for 5 months, weakness and pain in different limbs for 5 months, and difficulty in breathing for 2 weeks, 3 months ago. Initial differentials considered were haematogenous osteomyelitis and systemic-onset juvenile idiopathic arthritis. There was no rash, lymphadenopathy or hepatosplenomegaly. The initial bone marrow biopsy showed chronic inflammation and normal haematopoietic cells. The child developed septic arthritis in the right knee during hospitalisation. After excluding malignancy, chronic recurrent multifocal osteomyelitis was diagnosed, and anti-inflammatory medication was prescribed. Subsequently, the child exhibited pancytopenia and hepatosplenomegaly 2 months after hospital stay, and further bone marrow biopsy confirmed acute lymphoblastic leukaemia. This case underscores the importance of maintaining a vigilant approach to leukaemia when children present with musculoskeletal symptoms, as early detection and treatment are crucial for improving outcomes in childhood acute leukaemia.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC201 artigos no totalmostrando 119

2026

An abnormal immune response masquerading as infectious conditions.

SAGE open medical case reports
2026

Systemic Onset Juvenile Idiopathic Arthritis in Sickle Cell Anaemia: A Diagnostic Odyssey.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2025

Rescue Therapy With Continuous Intravenous Anakinra Infusion and Plasma Exchange in Refractory Cytokine Storm of Systemic JIA: A Case Report.

Case reports in pediatrics
2025

Tofacitinib as an adjuvant treatment for pediatric Still's disease.

Frontiers in pediatrics
2025

Systemic juvenile idiopathic arthritis, with tinea capitis and peripheral eosinophilia: a case report.

Annals of medicine and surgery (2012)
2025

Endogenous Lipoid Pneumonia in Adult Autoinflammatory Disease.

Arthritis care &amp; research
2025

Flagellate Dermatitis in Systemic-Onset Juvenile Idiopathic Arthritis: A Rare Cutaneous Manifestation of an Autoinflammatory Storm.

Indian journal of pediatrics
2025

Acute lymphoblastic leukaemia presenting as chronic recurrent multifocal osteomyelitis.

BMJ case reports
2025

The Implications of Musculoskeletal Manifestations in Acute Lymphoblastic Leukemia: A Decade's Experience from a Referral Center in Southern India.

Indian pediatrics
2025

A child with systemic onset juvenile idiopathic arthritis and nephrotic syndrome.

Pediatric nephrology (Berlin, Germany)
2024

Diagnostic guidelines for familial hemophagocytic lymphohistiocytosis revisited.

Blood
2024

Functional status of Indian children with juvenile idiopathic arthritis.

Rheumatology and immunology research
2024

Macrophage activation syndrome in a Sudanese child: a case report from Sudan.

Annals of medicine and surgery (2012)
2023

Case report: Success of allogeneic hematopoietic stem cell transplantation for refractory systemic-onset juvenile idiopathic arthritis.

Frontiers in medicine
2023

Disease evolution in systemic juvenile idiopathic arthritis: an international, observational cohort study through JIRcohort.

Pediatric rheumatology online journal
2023

[Refractory macrophage activation syndrome in children with systemic onset juvenile idiopathic arthritis treated with canakinumab].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2023

Use of Intravenous Anakinra for Management of Pediatric Cytokine Storm Syndromes at an Academic Medical Center.

Hospital pharmacy
2023

IFIH1 and DDX58 gene variants in pediatric rheumatic diseases.

World journal of clinical pediatrics
2023

Tocilizumab-induced hypofibrinogenemia in patients with systemic-onset juvenile idiopathic arthritis.

Scientific reports
2023

Rescue of Pap-Mas in Systemic JIA Using Janus Kinase Inhibitors, Case Report and Systematic Review.

Journal of clinical medicine
2023

ADA2 deficiency (DADA2) misdiagnosed as systemic onset juvenile idiopathic arthritis in a child carrying a novel compound heterozygous ADA2 mutation: a case report.

Translational pediatrics
2022

Efficacy of anakinra treatment in pediatric rheumatic diseases: Our single-center experience.

Archives of rheumatology
2023

Therapeutic plasma exchange in refractory macrophage activation syndrome complicating systemic juvenile idiopathic arthritis: a case-based review.

Rheumatology international
2023

JAK inhibitors in difficult-to-treat adult-onset Still's disease and systemic-onset juvenile idiopathic arthritis.

Rheumatology (Oxford, England)
2022

Secondary hemophagocytic lymphohistiocytosis associated with Rocky Mountain spotted fever in a toddler: A case report.

EJHaem
2022

Refractory systemic onset juvenile idiopathic arthritis: current challenges and future perspectives.

Annals of medicine
2022

Urticaria and angioedema in children and adolescents: diagnostic challenge.

Allergologia et immunopathologia
2023

Adult-onset and Juvenile-onset Still's Disease: A Comparative Study of Both Sides.

Current rheumatology reviews
2022

COVID-19 infection among patients with autoinflammatory diseases: a study on 117 French patients compared with 1545 from the French RMD COVID-19 cohort: COVIMAI - the French cohort study of SARS-CoV-2 infection in patient with systemic autoinflammatory diseases.

RMD open
2022

Severe Immediate and Delayed Hypersensitivity Reactions to Biologics in a Toddler With Systemic Juvenile Idiopathic Arthritis.

Journal of investigative medicine high impact case reports
2022

A case of multisystem inflammatory syndrome in children presenting as systemic onset juvenile idiopathic arthritis.

JPMA. The Journal of the Pakistan Medical Association
2022

[Recommendations of diagnosis and treatment of juvenile idiopathic arthritis in China].

Zhonghua nei ke za zhi
2021

Detection and Prediction of Macrophage Activation Syndrome in Still's Disease.

Journal of clinical medicine
2022

Crohn's disease in a patient with systemic onset juvenile idiopathic arthritis. Association or associated side effect of treatment?

Reumatologia clinica
2021

Still's Disease Mortality Trends in France, 1979-2016: A Multiple-Cause-of-Death Study.

Journal of clinical medicine
2022

Adult-onset Still's disease or systemic-onset juvenile idiopathic arthritis and spondyloarthritis: overlapping syndrome or phenotype shift?

Rheumatology (Oxford, England)
2021

Visceral Toxocariasis Presenting as Systemic-Onset Juvenile Idiopathic Arthritis.

Journal of tropical pediatrics
2021

Overlapping Features in Kawasaki Disease-Related Arthritis and Systemic-Onset Juvenile Idiopathic Arthritis: A Nationwide Study in Japan.

Frontiers in pediatrics
2021

Diffuse alveolar hemorrhage in children with trisomy 21.

Pediatric rheumatology online journal
2021

The immunoregulatory function of peripheral blood CD71+ erythroid cells in systemic-onset juvenile idiopathic arthritis.

Scientific reports
2021

Clinical Phenotypes of Adult-Onset Still's Disease: New Insights from Pathophysiology and Literature Findings.

Journal of clinical medicine
2021

Brucellosis as a cause of hyperferritinemia in systemic arthritis.

Pediatrics international : official journal of the Japan Pediatric Society
2021

The Association of Serum IL-10 Levels with the Disease Activity in Systemic-Onset Juvenile Idiopathic Arthritis Patients.

Mediators of inflammation
2021

Adult-Onset Still's Disease: Clinical Aspects and Therapeutic Approach.

Journal of clinical medicine
2020

Case Report: Life-Threatening Macrophage Activation Syndrome With Fulminant Myocarditis Successfully Rescued by High Dose Intravenous Anakinra.

Frontiers in pediatrics
2020

Perimyocarditis as first sign of systemic onset juvenile idiopathic arthritis treated successfully with anakinra: a case-based review.

Acta bio-medica : Atenei Parmensis
2021

Outcome of PatientsWith Systemic Onset Juvenile Idiopathic Arthritis With Macrophage Activation Syndrome at Onset.

Indian pediatrics
2021

Macrophage activation syndrome in systemic lupus erythematosus and systemic-onset juvenile idiopathic arthritis: a retrospective study of similarities and dissimilarities.

Rheumatology international
2021

Kawasaki disease mimickers.

Pediatrics international : official journal of the Japan Pediatric Society
2021

Pulmonary Manifestations of Rheumatic Diseases in Children.

Pediatric clinics of North America
2021

Safety and efficacy of anakinra as first-line or second-line therapy for systemic onset juvenile idiopathic arthritis - data from the German BIKER registry.

Expert opinion on drug safety
2021

Hemophagocytic Lymphohistiocytosis in a PICU of a Developing Economy: Clinical Profile, Intensive Care Needs, Outcome, and Predictors of Mortality.

Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies
2020

Aiming high: quantifying inflammation in systemic onset juvenile idiopathic arthritis (sJIA), a multi-faceted and complex inflammatory disease.

Rheumatology (Oxford, England)
2021

Communicating Calf Swelling in Systemic-Onset Juvenile Idiopathic Arthritis.

Journal of clinical rheumatology : practical reports on rheumatic &amp; musculoskeletal diseases
2020

Rheumatologists' perspective on coronavirus disease 19 (COVID-19) and potential therapeutic targets.

Clinical rheumatology
2020

Severe Recurrent Fever Episodes With Clinical Diagnosis of Hemophagocytic Lymphohistiocytosis, Incomplete Kawasaki Disease and Systemic-Onset Juvenile Idiopathic Arthritis: A Case Report and Literature Review.

Frontiers in pediatrics
2020

Comparison of Early vs. Delayed Anakinra Treatment in Patients With Adult Onset Still's Disease and Effect on Clinical and Laboratory Outcomes.

Frontiers in medicine
2020

Autoinflammatory diseases in childhood, part 2: polygenic syndromes.

Pediatric radiology
2020

Autoinflammatory diseases in childhood, part 1: monogenic syndromes.

Pediatric radiology
2020

Long-term surveillance of biologic therapies in systemic-onset juvenile idiopathic arthritis: data from the German BIKER registry.

Rheumatology (Oxford, England)
2019

Population pharmacokinetics of tacrolimus in pediatric patients with systemic-onset juvenile idiopathic arthritis: Initial dosage recommendations.

Experimental and therapeutic medicine
2019

Characterization of microbiota in systemic-onset juvenile idiopathic arthritis with different disease severities.

World journal of clinical cases
2019

Extreme thrombocytosis in systemic juvenile idiopathic arthritis. A case report.

Italian journal of pediatrics
2019

Cyclosporine for Systemic Onset Juvenile Idiopathic Arthritis: Current Stand and Future Directions.

Indian journal of pediatrics
2019

Achromobacter xylosoxidans Sepsis Unveiling X-linked Agammaglobulinemia Masquerading as Systemic-onset Juvenile Idiopathic Arthritis.

Indian pediatrics
2019

Long-Term Retention Rate of Anakinra in Adult Onset Still's Disease and Predictive Factors for Treatment Response.

Frontiers in pharmacology
2019

Comparative study of Interleukin-18 (IL-18) serum levels in adult onset Still's disease (AOSD) and systemic onset juvenile idiopathic arthritis (sJIA) and its use as a biomarker for diagnosis and evaluation of disease activity.

BMC rheumatology
2019

Treatment of patients with systemic-onset juvenile idiopathic arthritis with tacrolimus.

Experimental and therapeutic medicine
2019

Predictors of Effectiveness of Anakinra in Systemic Juvenile Idiopathic Arthritis.

The Journal of rheumatology
2019

The role of extracellular histones in systemic-onset juvenile idiopathic arthritis.

Italian journal of pediatrics
2019

Systemic onset juvenile idiopathic arthritis: a single center experience.

The Turkish journal of pediatrics
2018

Tocilizumab in the treatment of systemic-onset juvenile idiopathic arthritis - single-centre experience.

Reumatologia
2021

Methotrexate-Induced Vasculitis in a Child with Systemic Onset Juvenile Idiopathic Arthritis.

Journal of clinical rheumatology : practical reports on rheumatic &amp; musculoskeletal diseases
2019

Novel presentations of periodic fever syndromes: Discrepancies between genetic and clinical diagnoses.

European journal of rheumatology
2018

Impact of biologics on disease course in systemic onset juvenile idiopathic arthritis.

Clinical rheumatology
2018

Molecular genetic analysis for periodic fever syndromes: a supplemental role for the diagnosis of adult-onset Still's disease.

Clinical rheumatology
2018

Tocilizumab in Giant Cell Arteritis.

Cardiology in review
2018

[Recognition of systemic-onset juvenile idiopathic arthritis at the genetic level].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2019

Remission of Refractory Systemic-Onset Juvenile Idiopathic Arthritis After Treatment With Siltuximab.

Journal of clinical rheumatology : practical reports on rheumatic &amp; musculoskeletal diseases
2018

[Systemic juvenile onset idiopathic arthritis and adult onset still disease].

Revue medicale suisse
2018

Reversal of Sepsis-Like Features of Neutrophils by Interleukin-1 Blockade in Patients With Systemic-Onset Juvenile Idiopathic Arthritis.

Arthritis &amp; rheumatology (Hoboken, N.J.)
2018

Reasons for inactive disease and flare in systemic onset juvenile idiopathic arthritis patients during tocilizumab treatment.

Clinical and experimental rheumatology
2017

Proteinuria in children with juvenile idiopathic arthritis: Making the case for early urinary screening.

Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia
2017

Experience with etanercept, tocilizumab and interleukin-1 inhibitors in systemic onset juvenile idiopathic arthritis patients from the BIKER registry.

Arthritis research &amp; therapy
2019

Systemic-onset juvenile idiopathic arthritis and incomplete Kawasaki disease may belong to a single clinical syndrome within a spectrum of severity.

Clinical and experimental rheumatology
2017

Clinical improvement of renal amyloidosis in a patient with systemic-onset juvenile idiopathic arthritis who received tocilizumab treatment: a case report and literature review.

BMC nephrology
2017

A Systemic-Onset Juvenile Idiopathic Arthritis Patient with Reduced Anakinra Treatment Admitted with an Attack.

The Eurasian journal of medicine
2017

Proinflammatory Cytokine Environments Can Drive Interleukin-17 Overexpression by γ/δ T Cells in Systemic Juvenile Idiopathic Arthritis.

Arthritis &amp; rheumatology (Hoboken, N.J.)
2017

The novel use of combined IL-1 and IL-6 inhibition in a patient with severe, aggressive, erosive, systemic-onset juvenile idiopathic arthritis.

European journal of rheumatology
2017

Protecting Bone Health in Pediatric Rheumatic Diseases: Pharmacological Considerations.

Paediatric drugs
2017

In-hospital mortality in febrile lupus patients based on 2016 EULAR/ACR/PRINTO classification criteria for macrophage activation syndrome.

Seminars in arthritis and rheumatism
2017

Canakinumab for first line steroid-free treatment in a child with systemic-onset juvenile idiopathic arthritis.

Scandinavian journal of rheumatology
2017

Course, Outcome and Complications in Children with Systemic Onset Juvenile Idiopathic Arthritis.

Indian journal of pediatrics
2017

Extremely elevated IL-18 levels may help distinguish systemic-onset juvenile idiopathic arthritis from other febrile diseases.

Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas
2017

[Correctly adDRESS the cause of hemophagocytic lymphohistiocytosis].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
2017

Systemic-onset juvenile idiopathic arthritis or incomplete Kawasaki disease: a diagnostic challenge.

Clinical and experimental rheumatology
2016

Systemic onset juvenile idiopathic arthritis and exposure to fine particulate air pollution.

Clinical and experimental rheumatology
2016

Operative stabilization of the remaining mobile segment in ankylosed cervical spine in systemic onset - juvenile idiopathic arthritis: A case report.

World journal of orthopedics
2015

Systemic onset juvenile idiopathic arthritis with macrophage activation syndrome and coronary artery dilatation misdiagnosed as Kawasaki disease.

The Turkish journal of pediatrics
2016

Macrophage activation syndrome in a patient with systemic onset of the juvenile idiopathic arthritis.

Reumatologia
2016

Systemic-onset juvenile idiopathic arthritis.

Autoimmunity reviews
2016

Assessment of vascular function in systemic onset juvenile idiopathic arthritis.

Clinical rheumatology
2016

Atypical Cutaneous Manifestations in Adult Onset Still's Disease.

Case reports in rheumatology
2016

[Juvenile idiopathic arthritis: Definition and classification].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
2016

Should 2016 Criteria for Macrophage Activation Syndrome be applied in children with Kawasaki disease, as well as with systemic-onset juvenile idiopathic arthritis?

Annals of the rheumatic diseases
2015

Bullous Erythema Nodosum Leprosum masquerading as systemic onset juvenile idiopathic arthritis: A case report.

Leprosy review
2016

Potential Effects of Interleukins on the Pathogenesis of Systemic Onset Juvenile Idiopathic Arthritis.

Pediatrics and neonatology
2016

IL-6 blockers in systemic onset juvenile idiopathic arthritis.

Immunotherapy
2015

A safety evaluation of canakinumab for the treatment of systemic onset juvenile idiopathic arthritis.

Expert opinion on drug safety
2015

Successful treatment of macrophage activation syndrome due to systemic onset juvenile idiopathic arthritis with antithymocyte globulin.

Rheumatology international
2015

Newly recognized Mendelian disorders with rheumatic manifestations.

Current opinion in rheumatology
2015

From bench to bedside and back again: translational research in autoinflammation.

Nature reviews. Rheumatology
2015

Diagnosis of systemic-onset juvenile idiopathic arthritis after treatment for presumed Kawasaki disease.

The Journal of pediatrics
2016

Effect of etanercept on refractory systemic-onset juvenile idiopathic arthritis.

World journal of pediatrics : WJP
2015

Treatment of systemic-onset juvenile arthritis with canakinumab.

Open access rheumatology : research and reviews
2015

Successful treatment with tocilizumab every 4 weeks of a low disease activity group who achieve a drug-free remission in patients with systemic-onset juvenile idiopathic arthritis.

Pediatric rheumatology online journal
2015

Myositis as a presenting feature of systemic onset juvenile idiopathic arthritis.

Journal of paediatrics and child health
2015

Adult-onset Still's disease-pathogenesis, clinical manifestations, and new treatment options.

Annals of medicine
2015

[Macrophage activation syndrome in a patient with systemic juvenile idiopathic arthritis].

Revista brasileira de reumatologia
Ver todos os 201 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Artrite juvenil idiopática de início sistêmico.

É de uma associação que acompanha esta doença? Fale com a gente →

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Artrite juvenil idiopática de início sistêmico

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

Tire suas dúvidas

Perguntas, dicas e experiências compartilhadas aqui na página

Participe da discussão

Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.

Fazer login

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. Systemic Onset Juvenile Idiopathic Arthritis in Sickle Cell Anaemia: A Diagnostic Odyssey.
    Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion· 2026· PMID 41522543mais citado
  2. An abnormal immune response masquerading as infectious conditions.
    SAGE open medical case reports· 2026· PMID 41783506mais citado
  3. Rescue Therapy With Continuous Intravenous Anakinra Infusion and Plasma Exchange in Refractory Cytokine Storm of Systemic JIA: A Case Report.
    Case reports in pediatrics· 2025· PMID 41477438mais citado
  4. Tofacitinib as an adjuvant treatment for pediatric Still's disease.
    Frontiers in pediatrics· 2025· PMID 40909428mais citado
  5. Acute lymphoblastic leukaemia presenting as chronic recurrent multifocal osteomyelitis.
    BMJ case reports· 2025· PMID 40194802mais citado
  6. Effectiveness of Canakinumab for First-Line Steroid-Free Treatment in Systemic-Onset Juvenile Idiopathic Arthritis and Juvenile Still Disease.
    ACR Open Rheumatol· 2026· PMID 41933457recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:85414(Orphanet)
  2. MONDO:0019434(MONDO)
  3. GARD:10966(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q17148432(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

Artrite juvenil idiopática de início sistêmico
Compêndio · Raras BR

Artrite juvenil idiopática de início sistêmico

ORPHA:85414 · MONDO:0019434
Prevalência
1-9 / 100 000
Herança
Multigenic/multifactorial, Unknown
CID-10
M08.2 · Artrite juvenil com início sistêmico
CID-11
Ensaios
9 ativos
Início
Childhood
Prevalência
3.1 (Worldwide)
MedGen
UMLS
C0087031
EuropePMC
Wikidata
Papers 10a
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades