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Agamaglobulinemia ligada ao X
ORPHA:47CID-10 · D80.0CID-11 · 4A01.00OMIM 300755DOENÇA RARA

A agamaglobulinemia ligada ao X (XLA) é uma doença de imunodeficiência genética. Isso significa que o sistema de defesa do corpo não funciona como deveria. É um tipo de agamaglobulinemia (falta de anticorpos), que pode se manifestar de formas variadas. Em meninos afetados, a doença é caracterizada por infecções bacterianas que surgem e se repetem com frequência durante a infância.

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Introdução

O que você precisa saber de cara

📋

A agamaglobulinemia ligada ao X (XLA) é uma doença de imunodeficiência genética. Isso significa que o sistema de defesa do corpo não funciona como deveria. É um tipo de agamaglobulinemia (falta de anticorpos), que pode se manifestar de formas variadas. Em meninos afetados, a doença é caracterizada por infecções bacterianas que surgem e se repetem com frequência durante a infância.

Pesquisas ativas
2 ensaios
15 total registrados no ClinicalTrials.gov
Publicações científicas
1.111 artigos
Último publicado: 2026

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.1
Europe
Início
Childhood
🏥
SUS: Cobertura mínimaScore: 5%
Triagem neonatal (Fase 4)CID-10: D80.0
Você se identifica com essa condição?
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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

🧬
Pele e cabelo
6 sintomas
🫁
Pulmão
5 sintomas
🩸
Sangue
5 sintomas
🛡️
Imunológico
4 sintomas
🫃
Digestivo
4 sintomas
👂
Ouvidos
3 sintomas

+ 33 sintomas em outras categorias

Características mais comuns

100%prev.
Bronquiolite obliterante
Frequência: 2/2
100%prev.
Contagem total de linfócitos B diminuída
Frequência: 44/44
100%prev.
Sibilos
Frequência: 2/2
100%prev.
Agamaglobulinemia
Muito frequente (99-80%)
100%prev.
Concentração diminuída de IgE circulante
Frequência: 2/2
100%prev.
Ausência completa ou quase completa de resposta de anticorpos específicos à vacina contra Haemophilus influenzae tipo b (Hib)
Obrigatório (100%)
67sintomas
Muito frequente (23)
Frequente (16)
Ocasional (13)
Muito raro (1)
Sem dados (14)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 67 características clínicas mais associadas, ordenadas por frequência.

Bronquiolite obliteranteBronchiolitis obliterans
Frequência: 2/2100%
Contagem total de linfócitos B diminuídaDecreased total B cell count
Frequência: 44/44100%
SibilosWheezing
Frequência: 2/2100%
AgamaglobulinemiaAgammaglobulinemia
Muito frequente (99-80%)100%
Concentração diminuída de IgE circulanteDecreased circulating IgE concentration
Frequência: 2/2100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico1.111PubMed
Últimos 10 anos200publicações
Pico202251 papers
Linha do tempo
2026Hoje · 2026🧪 1995Primeiro ensaio clínico📈 2022Ano de pico
Publicações por ano (últimos 10 anos)

Triagem neonatal (Teste do Pezinho)

👶
Teste: KREC (Kappa-deleting Recombination Excision Circles)
Fase 4 do PNTNpending
Incidência no Brasil: 1:200.000

A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.

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

1 gene identificado com associação a esta condição. Padrão de herança: X-linked recessive.

BTKTyrosine-protein kinase BTKDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Non-receptor tyrosine kinase indispensable for B lymphocyte development, differentiation and signaling (PubMed:19290921). Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that ultimately leads to B-cell activation (PubMed:19290921). After BCR engagement and activation at the plasma membrane, phosphorylates PLCG2 at several sites, igniting the downstream signaling pathway through calcium mobilization, followed by activation of the protein kinase C (PKC) family members (P

LOCALIZAÇÃO

CytoplasmCell membraneNucleusMembrane raft

VIAS BIOLÓGICAS (10)
Antigen activates B Cell Receptor (BCR) leading to generation of second messengersPotential therapeutics for SARSMyD88:MAL(TIRAP) cascade initiated on plasma membraneER-Phagosome pathwayIRAK4 deficiency (TLR2/4)
MECANISMO DE DOENÇA

X-linked agammaglobulinemia

Humoral immunodeficiency disease which results in developmental defects in the maturation pathway of B-cells. Affected boys have normal levels of pre-B-cells in their bone marrow but virtually no circulating mature B-lymphocytes. This results in a lack of immunoglobulins of all classes and leads to recurrent bacterial infections like otitis, conjunctivitis, dermatitis, sinusitis in the first few years of life, or even some patients present overwhelming sepsis or meningitis, resulting in death in a few hours. Treatment in most cases is by infusion of intravenous immunoglobulin.

OUTRAS DOENÇAS (3)
isolated growth hormone deficiency type IIIBruton-type agammaglobulinemiashort stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
HGNC:1133UniProt:Q06187

Medicamentos aprovados (FDA)

1 medicamento encontrado nos registros da FDA americana.

💊 QIVIGY kthm (HUMAN IMMUNOGLOBULIN G)
Ver no DailyMed/FDA

Variantes genéticas (ClinVar)

577 variantes patogênicas registradas no ClinVar.

🧬 BTK: NM_000061.3(BTK):c.1881T>A (p.Tyr627Ter) ()
🧬 BTK: NM_000061.3(BTK):c.862C>G (p.Arg288Gly) ()
🧬 BTK: NM_000061.3(BTK):c.425dup (p.Tyr142Ter) ()
🧬 BTK: NM_000061.3(BTK):c.931A>T (p.Lys311Ter) ()
🧬 BTK: NM_000061.3(BTK):c.1762T>A (p.Trp588Arg) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 736 variantes classificadas pelo ClinVar.

147
331
258
Patogênica (20.0%)
VUS (45.0%)
Benigna (35.1%)
VARIANTES MAIS SIGNIFICATIVAS
BTK: NM_000061.3(BTK):c.862C>G (p.Arg288Gly) [Pathogenic]
BTK: NM_000061.3(BTK):c.425dup (p.Tyr142Ter) [Pathogenic]
BTK: NM_000061.3(BTK):c.931A>T (p.Lys311Ter) [Pathogenic]
BTK: NM_000061.3(BTK):c.1762T>A (p.Trp588Arg) [Likely pathogenic]
BTK: NM_000061.3(BTK):c.410A>G (p.Asp137Gly) [Uncertain significance]

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.
Aprovado2
3Fase 31
2Fase 21
·Pré-clínico4
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 8 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Agamaglobulinemia ligada ao X

🗺️

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

Pesquisa e ensaios clínicos

15 ensaios clínicos encontrados, 2 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
448 papers (10 anos)
#1

Involvement of Btk in Cardiovascular Disease and Its Therapeutic Targeting.

Circulation2026 Feb 10

Btk (Bruton's tyrosine kinase), a Tec-family kinase initially recognized for its role in B-cell signaling, has emerged as a critical player in thrombosis and cardiovascular disease. Beyond the established therapeutic effects of Btk inhibitors in B-cell malignancies, its expression in platelets, macrophages, and neutrophils implicates Btk in platelet activation, atherothrombosis, and innate immunity. This state-of-the-art review synthesizes the current understanding of Btk's mechanistic contributions to thrombosis and cardiovascular disease, evaluates the evolution of Btk inhibitors (BTKi), and explores their therapeutic potential. Patients with X-linked agammaglobulinemia who lack Btk do not have a bleeding diathesis, indicating that platelet-selective Btk inhibition would be a safe antithrombotic strategy. In platelets, Btk mediates immunoreceptor tyrosine-based activation motif-dependent and -independent signaling, driving atherothrombosis, venous thrombosis, and immunothrombosis without affecting hemostatic platelet functions. In myeloid cells, Btk amplifies inflammation via NLRP3 inflammasome activation and neutrophil extracellular trap formation, linking it to thromboinflammation and atherosclerosis. First-generation BTKi such as ibrutinib demonstrate antithrombotic efficacy but are limited by off-target effects, including bleeding and atrial fibrillation. Second- and third-generation inhibitors (eg, acalabrutinib, zanubrutinib, and pirtobrutinib) show enhanced selectivity, reducing cardiovascular toxicity in patients with B-cell malignancies. Highly selective BTKi (fenebrutinib and remibrutinib) do not show bleeding in clinical trials of various autoimmune disorders, and covalent selective BTKi applied at low dosage are expected to selectively inhibit Btk in platelets without bleeding side effects. Preclinical data and early observations from compassionate use in patients with atypical autoimmune thrombosis highlight the potential of BTKi as selective antithrombotic agents beyond traditional therapies. This review conceptualizes and underscores Btk's pivotal role at immune-thrombosis interfaces in atherothrombosis, advocating for precision medicine approaches and innovative platforms to unlock its full therapeutic potential in cardiovascular disease management.

#2

T-Cell Receptor Excision Circle/Kappa-Deleting Recombination Excision Circle-Based Newborn Screening Program for Severe Combined Immunodeficiency in Kumamoto, Japan.

Cell biochemistry and biophysics2026 Mar

Severe combined immunodeficiency (SCID) is a life-threatening hereditary disorder that requires early diagnosis and intervention. Therefore, this study aimed to evaluate the utility of T-cell receptor excision circle (TREC) and kappa-deleting recombination excision circle (KREC) measurements in newborn screening (NBS) for SCID and other primary immunodeficiencies in Kumamoto Prefecture, Japan. In a TREC-based NBS program (February 2019–March 2022, N = 43,658), six newborns (0.014%) underwent immunological testing, and three (0.007%) were diagnosed with T-cell lymphopenia. In a subsequent combined TREC/KREC-based NBS program (April 2022–March 2023, N = 12,335), eight newborns (0.065%) required further testing, and one (0.008%) was diagnosed with X-linked agammaglobulinemia. Decreased KREC levels were observed in two newborns exposed to maternal azathioprine (AZP). The TREC levels tended to be lower in more premature infants, whereas the KREC levels showed no clear correlation with gestational age (GA). Both the TREC and KREC levels were reduced in infants with low birth weights (BWs). These findings indicate that the combined TREC/KREC-based NBS program is an effective approach for detecting T- and B-cell immunodeficiencies. However, clinical factors such as maternal AZP exposure, low GA, and low BW may affect TREC and/or KREC levels, necessitating careful interpretation of results from dried blood spot samples. The online version contains supplementary material available at 10.1007/s12013-025-01873-5.

#3

A patient with WHIM syndrome presenting relatively low TREC, KREC, and housekeeping gene levels by newborn screening -a case report and the literature review.

Immunological medicine2026 Mar 07

WHIM syndrome is the inborn errors of immunity characterized by warts, hypogammaglobulinemia, infections, and myelokathexis, by the pathogenic variant in CXCR4. Patients with WHIM syndrome demonstrate neutropenia and lymphopenia due to the impaired migration of neutrophils and lymphocytes from the bone marrow. Diagnosis of patients with WHIM syndrome is often challenging, because some patients with WHIM syndrome do not show all characteristic four manifestations. T-cell receptor excision circle (TREC) and kappa-deleting recombination excision circle (KREC) assay is used for the screening of disease, such as severe combined immunodeficiencies and X-linked agammaglobulinemia. Several reports have shown that patients with WHIM syndrome show relatively low TREC or KREC levels, sometimes below the cut-off value. We present a patient with WHIM syndrome who developed recurrent viral and bacterial infections with myelokathexis. We assessed TREC, KREC, and a housekeeping gene marker levels at 5 days after birth and 3 years of age; although all values were relatively low, they remained above the established cut-off thresholds. We reviewed reports on TREC, KREC, and housekeeping gene levels in patients with WHIM syndrome and found that these patients generally showed relatively low levels of all three markers, with some values falling below the established cut-off thresholds.

#4

Novel indications for hematopoietic stem cell transplantation in inborn errors of immunity.

Expert review of clinical immunology2026 Feb

Hematopoietic stem cell transplantation (HSCT) is a curative treatment for an expanding spectrum of inborn errors of immunity (IEI). Whilst the utility and success of this treatment is well established for common, or historically described IEI (severe combined immunodeficiency, Wiskott-Aldrich syndrome, CD40L deficiency, the role of HSCT for emerging, newly described IEI is less clear. This review examines HSCT results for recently described IEI or those in which HSCT has only recently and rarely been employed. The literature search included HSCT in IEI from 2020 to 2025. We report the HSCT experience and outcome in newly described diseases including RIPK1, ARPC1B, CD27/CD70 deficiency. More established diseases for which HSCT has only recently been reported are described, including female carriers of X-linked chronic granulomatous disease, and X-linked agammaglobulinemia. We report on recently described diseases with limited HSCT experience including CTLA-4/LRBA deficiency, STAT1 gain-of-function. Finally, we consider diseases where HSCT has previously been considered inappropriate, like STAT3 loss-of-function. Previous experience implies that younger age and fewer co-morbidities at time of HSCT improve outcomes, but limited natural history data combined with increased use of targeted therapies make HSCT decisions difficult in new diseases. Adoption of disease-appropriate scoring tools may aid decision making.

#5

Bilateral idiopathic peripapillary choroidal neovascularization in a child with bruton disease: a case report.

BMC ophthalmology2026 Mar 03

To describe a rare, unexplained case of bilateral peripapillary choroidal neovascularization (PPCNV) in a child with X-linked agammaglobulinemia (XLA, Bruton disease). A 13-year-old boy with XLA on regular intravenous immunoglobulin replacement presented with rapidly progressive bilateral vision loss. Best-corrected visual acuity (BCVA) was 20/100 OU. Fundus exam and multimodal imaging confirmed bilateral PPCNV with subretinal fluid. Extensive systemic, infectious, and immunologic investigations, including MRI, CT, cerebrospinal fluid, and broad serology panels, were unrevealing; interpretation of serologies was confounded by IVIG therapy. Intravitreal aflibercept led to initial anatomical and functional improvement, but macular atrophy subsequently developed, with limited visual recovery. No ocular inflammation or congenital optic disc anomaly was identified. Pediatric PPCNV is rare and usually secondary to inflammation or congenital anomalies. To our knowledge, this is the first report of PPCNV in XLA. Although the association appears coincidental, collaborative reporting of similar cases is needed to explore possible immunologic contributions and refine treatment strategies. The online version contains supplementary material available at 10.1186/s12886-026-04691-2.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC530 artigos no totalmostrando 197

2026

A patient with WHIM syndrome presenting relatively low TREC, KREC, and housekeeping gene levels by newborn screening -a case report and the literature review.

Immunological medicine
2026

Novel indications for hematopoietic stem cell transplantation in inborn errors of immunity.

Expert review of clinical immunology
2026

Bilateral idiopathic peripapillary choroidal neovascularization in a child with bruton disease: a case report.

BMC ophthalmology
2026

Pre- and peri-hematopoietic cell transplant management of disseminated non-Helicobacter pylori Helicobacter infection in X-linked agammaglobulinemia: Case series and literature review.

Clinical immunology (Orlando, Fla.)
2026

Good's Syndrome Mirrors a Combined Immunodeficiency with Anti-Cytokine Antibodies in the Total Absence of B Cells.

Journal of clinical immunology
2026

Involvement of Btk in Cardiovascular Disease and Its Therapeutic Targeting.

Circulation
2026

Stem cell transplantation in immuno-hematologic and infectious diseases.

World journal of transplantation
2026

COVID-19 Outcomes and Risk Factors for Hospitalization in Adult Patients With Primary Immunodeficiency.

Allergy, asthma &amp; immunology research
2026

Insights into pulmonary lophomoniasis infection in a Bruton's disease patient; A case report study and literature review.

IDCases
2025

Primary Humoral Immunodeficiencies and Bronchiectasis in Adults.

Journal of clinical medicine
2025

Pulmonary Manifestations of Inborn Errors of Immunity: Diagnostic and Therapeutic Insights.

Life (Basel, Switzerland)
2026

Immunoglobulin disorders in pediatric chronic rhinosinusitis.

Current opinion in allergy and clinical immunology
2025

Multidrug-Resistant Campylobacter jejuni Bacteremia Case Following Sheepskin Wrap Application.

Vector borne and zoonotic diseases (Larchmont, N.Y.)
2025

Bruton's Agammaglobulinemia: Case Series and Literature Review From King Fahad Central Hospital, Jizan, Saudi Arabia.

The American journal of case reports
2025

RNA Sequencing Addresses a 5' UTR Variant Leading to X-Linked Agammaglobulinemia and Broader Immune Dysregulation.

Journal of clinical immunology
2025

A rare cause of cellulitis and bacteremia by Achromobacter xylosoxidans in a patient with X-linked agammaglobulinemia: a case report.

Annals of medicine and surgery (2012)
2025

Toll-like Receptors in Inborn Errors of Immunity in Children: Diagnostic Potential and Therapeutic Frontiers-A Review of the Latest Data.

Cells
2026

Cutaneous Botryomycosis due to Burkholderia pyrrocinia in a Child With X-Linked Agammaglobulinemia: A Case Report.

Journal of paediatrics and child health
2025

Clinical relevant Bruton's X-linked tyrosine kinase deficiency in a female with extreme X-chromosome inactivation.

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology
2025

Enterohepatic Non-H. pylori Helicobacter Infection in a Patient With X-Linked Agammaglobulinemia.

Pediatric dermatology
2025

Bronchiectasis, Low IgG Levels and Lack of Vaccination are Risk Factors for Covid-19 Hospitalization in X-linked Agammaglobulinemia - A Retrospective Multicenter Study.

Journal of clinical immunology
2025

Expansion of Myeloid-Derived Suppressor Cells and Lymphocyte Apoptosis Beyond B-Cell Deficiency in X-Linked Agammaglobulinemia.

Scandinavian journal of immunology
2025

Next-generation Sequencing and Other Second Tier Tests in Newborn Screening for (X-linked) Agammaglobulinemia.

Journal of clinical immunology
2025

TACI and BTK gene analysis in predominantly antibody deficiencies among the primary immunodeficiency disorder patients in Bangladesh.

Frontiers in medicine
2025

Bruton tyrosine kinase modulates systemic immune activation to bacterial translocation in primary antibody deficiencies.

The Journal of allergy and clinical immunology
2025

Serum sBCMA in primary and secondary antibody deficiency.

Clinical and experimental immunology
2025

Monocyte plasticity and HLA-DR expression in patients with X-linked agammaglobulinemia.

Immunologic research
2025

Case Report: Hematopoietic stem cell transplantation in an adult patient with X-linked agammaglobulinemia and severe refractory enteropathy.

Frontiers in immunology
2025

Is it time for the A/I (allergist/immunologist) to embrace AI (artificial intelligence) in diagnosis and treatment of the inborn errors of immunity?

Allergy and asthma proceedings
2025

Case Report: X-linked agammaglobulinemia with progressive neurodegeneration from immunological to neurological implications.

Frontiers in immunology
2025

Hematopoietic stem cell gene therapy for the treatment of X-linked agammaglobulinemia.

Molecular therapy. Methods &amp; clinical development
2025

Fatal X-linked agammaglobulinemia complicated by septic shock: a case report and comprehensive review of novel BTK mutations.

Frontiers in immunology
2026

T-Cell Receptor Excision Circle/Kappa-Deleting Recombination Excision Circle-Based Newborn Screening Program for Severe Combined Immunodeficiency in Kumamoto, Japan.

Cell biochemistry and biophysics
2025

Pocapavir treatment of enterovirus encephalitis in a patient with X-linked Agammaglobulinemia.

Clinical immunology (Orlando, Fla.)
2025

EBV-Driven HLH and T Cell Lymphoma in a Child with X-Linked Agammaglobulinemia: A Genetically Confirmed Case Report and Literature Review.

Journal of personalized medicine
2025

Pediatric and Adult Inborn Errors of Immunity and COVID-19: A Comparative Study.

Journal of medical virology
2025

Impairment of Collagen-Induced Thrombus Formation in Microfluidic Assay Correlates with Bleeding Complications Better Than Cytofluorometric Parameters.

Thrombosis and haemostasis
2025

Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis.

Journal of clinical immunology
2025

Spectrum of BTK gene mutations in Vietnamese patients with X-linked agammaglobulinemia.

Molecular biology reports
2025

Case Report: Preserved umbilical cords underscore family histories of inborn errors of immunity.

Frontiers in immunology
2026

X-linked Agammaglobulinemia First Diagnosed in Adulthood with Recurrent Pneumonia and Multiple Warty Skin Nodules.

Internal medicine (Tokyo, Japan)
2025

Clinical and Molecular Characteristics of X-Linked Agammaglobulinemia Patients 55 Years or Older.

The journal of allergy and clinical immunology. In practice
2025

Identification and characterization of a novel human adenovirus type HAdV-D116.

Frontiers in microbiology
2025

Beyond TREC: Pivotal role of tandem TREC/KREC assay in Czech SCID NBS pilot programme.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
2025

Immune Thrombocytopenia in an Adult With X-linked Agammaglobulinemia: A Case Report.

EJHaem
2025

Cell-penetrating peptide-conjugated, splice-switching oligonucleotides mitigate the phenotype in BTK/Tec double deficient X-linked agammaglobulinemia model.

RSC chemical biology
2025

Enhanced T-cell immunity and lower humoral responses following 5-dose SARS-CoV-2 vaccination in patients with inborn errors of immunity compared with healthy controls.

Frontiers in immunology
2025

[A case of invasive Aspergillosis secondary to Mycoplasma pneumoniae pneumonia in a X-linked agammaglobulinemia patient].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2025

Gene therapy for inborn errors of immunity: Current clinical progress.

Annals of allergy, asthma &amp; immunology : official publication of the American College of Allergy, Asthma, &amp; Immunology
2025

[Detection of neutralizing antibody against SARS-CoV-2 in a patient with X-linked agammaglobulinemia receiving immunoglobulin replacement therapy].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2025

Neonatal Screening for Spinal Muscular Atrophy and Severe T- and B-Cell Lymphopenias in Andalusia: A Prospective Study.

International journal of neonatal screening
2025

A Rapid Point-of-Care Ultrasound Diagnosis and Treatment of Tamponade in a Patient With Rare and Lethal Purulent Pericarditis: A Case Report.

Cureus
2025

The dilemma of X-linked agammaglobulinemia carriers.

The journal of allergy and clinical immunology. Global
2025

One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them.

Blood
2025

Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.

International journal of neonatal screening
2025

Gut microbial dysbiosis, IgA, and Enterococcus in common variable immunodeficiency with immune dysregulation.

Microbiome
2024

A Case of X-Linked Agammaglobulinemia and COVID-19 in a Japanese Infant.

Journal of Nippon Medical School = Nippon Ika Daigaku zasshi
2025

B-ALL in a 21-year-old male with X-linked agammaglobulinemia (XLA): a case report and review of B-cell malignancies in XLA.

Leukemia &amp; lymphoma
2024

Nephrotic Syndrome and Recurrent Infection.

Iranian journal of allergy, asthma, and immunology
2024

Single Mutation Different Clinical Findings: IGLL1 Defect.

Iranian journal of allergy, asthma, and immunology
2025

Bruton's tyrosine kinase (BTK) and matrix metalloproteinase-9 (MMP-9) regulate NLRP3 inflammasome-dependent cytokine and neutrophil extracellular trap responses in primary neutrophils.

The Journal of allergy and clinical immunology
2024

Comprehensive newborn screening for severe combined immunodeficiency, X-linked agammaglobulinemia, and spinal muscular atrophy: the Chinese experience.

World journal of pediatrics : WJP
2024

Clinical approach for pulmonary alveolar proteinosis in children.

World journal of clinical cases
2024

Digenic Inheritance of Hereditary Spherocytosis Type III and X-linked Agammaglobulinemia: Coexistence of Two Distinct Recessive Disorders in a Male Child.

Cureus
2024

Atypical Manifestation of X-linked Agammaglobulinemia - the Importance of Genetic Testing.

Acta medica (Hradec Kralove)
2024

Disseminated Aspergillosis in X-linked Agammaglobulinemia: Beyond the norm.

Journal of clinical immunology
2025

Abnormal T Cells Function Associated With Intraspinal Cold Abscess Caused by Macrolide-resistant Mycoplasma pneumoniae in a Patient With X-linked Agammaglobulinemia.

The Pediatric infectious disease journal
2024

Carbapenem resistant Campylobacter jejuni bacteremia in a Bruton's X-linked agammaglobulinemia patient.

European journal of clinical microbiology &amp; infectious diseases : official publication of the European Society of Clinical Microbiology
2024

Mycoplasma pneumonia in a patient with X-linked agammaglobulinemia.

BMC infectious diseases
2024

Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia.

The Journal of allergy and clinical immunology
2024

Case report of renal manifestations in X-linked agammaglobulinemia.

Frontiers in immunology
2024

Dysregulation of Toll-Like Receptor Signaling-Associated Gene Expression in X-Linked Agammaglobulinemia: Implications for Correlations Genotype-Phenotype and Disease Expression.

Journal of innate immunity
2024

Clinical feature of omicron infection in children with inborn errors of immunity in China.

Frontiers in immunology
2024

Discordant Phenotypes of Nephritis in Patients with X-linked Agammaglobulinemia.

Journal of clinical immunology
2024

E41K mutation activates Bruton's tyrosine kinase by stabilizing an inositol hexakisphosphate-dependent invisible dimer.

The Journal of biological chemistry
2024

Selective Btk inhibition by PRN1008/PRN473 blocks human CLEC-2, and PRN473 reduces venous thrombosis formation in mice.

Blood advances
2024

Obturator internus muscle abscess in a case of X-linked agammaglobulinemia.

Pediatrics international : official journal of the Japan Pediatric Society
2024

Severe enterovirus infections in patients with immune-mediated inflammatory diseases receiving anti-CD20 monoclonal antibodies.

RMD open
2025

Young Patient with X-linked Agammaglobulinemia Presents with Advanced Gastric Cancer and Extensive Atrophic Gastritis.

Internal medicine (Tokyo, Japan)
2024

Viral infections and inborn errors of immunity.

Current opinion in infectious diseases
2023

Membranoproliferative Glomerulonephritis Type I Associated with Intravenous Immunoglobulin Administration Arising in a Child with X-Linked Agammaglobulinemia: A Case Report and a Reappraisal.

Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia
2024

Intravenous immunoglobulins for the treatment of prolonged COVID-19 in immunocompromised patients: a brief report.

Frontiers in immunology
2024

Immunogenicity of COVID-19 booster vaccination in IEI patients and their one year clinical follow-up after start of the COVID-19 vaccination program.

Frontiers in immunology
2024

BTK drives neutrophil activation for sterilizing antifungal immunity.

The Journal of clinical investigation
2024

Follow-up of immune response in patients with common variable immunodeficiency following SARS-CoV-2 vaccination.

Clinical and experimental immunology
2024

IgA nephropathy in a child with X-linked agammaglobulinemia: a case report.

BMC pediatrics
2024

B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study.

Immunogenetics
2024

Severe Tick-Borne Encephalitis (TBE) in a Patient with X-Linked Agammaglobulinemia; Treatment with TBE Virus IgG Positive Plasma, Clinical Outcome and T Cell Responses.

Journal of clinical immunology
2024

Clinical Utility of Flow-Cytometry for Diagnosis and Genotype Phenotype Correlation in a Cohort of X-linked Agammaglobulinemia Patients.

Indian journal of pediatrics
2024

A deep intronic BTK variant underlies X-linked agammaglobulinemia.

Journal of clinical immunology
2024

Pulmonary alveolar proteinosis induced by X-linked agammaglobulinemia: A case report.

World journal of clinical cases
2024

Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years.

Genes
2024

Hematopoietic stem cell gene editing rescues B-cell development in X-linked agammaglobulinemia.

The Journal of allergy and clinical immunology
2024

Safety and efficacy of biologic immunosuppressive treatment in juvenile idiopathic arthritis associated with inborn errors of immunity.

Frontiers in pediatrics
2024

Heterozygous TCF3-related disease presenting as X-linked agammaglobulinemia mimicry in a male toddler with B-cell aplasia, agammaglobulinemia, and severe neutropenia.

Pediatric blood &amp; cancer
2024

Immunoglobulin replacement therapies in inborn errors of immunity: a review.

Frontiers in pediatrics
2024

Non-Helicobacter pylori Helicobacter Species as a Cause of Refractory Chronic Cellulitis in X-Linked Agammaglobulinemia.

Journal of clinical immunology
2024

Gene regulation in inborn errors of immunity: Implications for gene therapy design and efficacy.

Immunological reviews
2024

Pulmonary Computed Tomography Screening Frequency in Primary Antibody Deficiency.

The journal of allergy and clinical immunology. In practice
2024

Screening and Characterization of Allosteric Small Molecules Targeting Bruton's Tyrosine Kinase.

Biochemistry
2023

Combined Treatment of Progressive Encephalitis in an X-linked Agammaglobulinemia Patient.

Iranian journal of allergy, asthma, and immunology
2023

Novel BTK Mutation in Patient with Late Diagnosis of X-Linked Agammaglobulinemia.

Case reports in immunology
2023

Empiric anti-Giardia therapy in non-diarrheal protein-losing enteropathy: A focus on children with monogenic humoral immunodeficiency.

Qatar medical journal
2023

Investigation of a synonymous mutation in Btk in a patient with agammaglobulinemia: A case report.

Immunity, inflammation and disease
2023

Cellular immune response to SARS-CoV-2 in patients with primary antibody deficiencies.

Frontiers in immunology
2023

Clinical features and mutational analysis of X-linked agammaglobulinemia patients in Malaysia.

Frontiers in immunology
2023

Chronic Diarrhea with Villous Blunting of the Small Intestine Under Capsule Endoscopy in Common Variable Immunodeficiency and X-Linked Agammaglobulinemia: A Case Series.

Journal of asthma and allergy
2023

Genetic screening in a Brazilian cohort with inborn errors of immunity.

BMC genomic data
2023

BTKbase, Bruton Tyrosine Kinase Variant Database in X-Linked Agammaglobulinemia: Looking Back and Ahead.

Human mutation
2023

Inborn Errors of Immunity-the Sri Lankan Experience 2010-2022.

Journal of clinical immunology
2023

An International Survey of Allogeneic Hematopoietic Cell Transplantation for X-Linked Agammaglobulinemia.

Journal of clinical immunology
2023

Kawasaki Disease and Inborn Errors of Immunity: Exploring the Link and Implications.

Diagnostics (Basel, Switzerland)
2023

Exposure to Therapeutic BTK Inhibitors Induces Phenocopying of Btk29A Mutants in the Fruit Fly Drosophila melanogaster.

Frontiers in bioscience (Landmark edition)
2023

X-linked Agammaglobulinemia Diagnosed Following Bezold's Abscess: A Case Report.

The Tokai journal of experimental and clinical medicine
2023

Hemizygous BTK Gene Variant Causing X-Linked Agammaglobulinemia in Two Siblings.

Journal of clinical immunology
2023

Immune Responses 6 Months After mRNA-1273 COVID-19 Vaccination and the Effect of a Third Vaccination in Patients with Inborn Errors of Immunity.

Journal of clinical immunology
2023

A Registry Study of 240 Patients with X-Linked Agammaglobulinemia Living in the USA.

Journal of clinical immunology
2023

COVID-19 Pneumonia with Migratory Pattern in Agammaglobulinemic Patients: A Report of Two Cases and Review of Literature.

Tomography (Ann Arbor, Mich.)
2023

Research-based flow cytometry assays for pathogenic assessment in the human B-cell biology of gene variants revealed in the diagnosis of inborn errors of immunity: a Bruton's tyrosine kinase case-study.

Frontiers in immunology
2023

Monoclonal Antibodies for COVID-19 in X-linked Agammaglobulinemia: a Case Series.

Journal of clinical immunology
2023

Chronic Aichi Virus Infection As a Cause of Long-Lasting Multiorgan Involvement in Patients With Primary Immune Deficiencies.

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America
2023

SARS-CoV-2 spike antibody concentration in gamma globulin products from high-prevalence COVID-19 countries are transmitted to X-linked agammaglobulinemia patients.

Frontiers in immunology
2023

SARS-CoV-2 Antibodies in Commercial Immunoglobulin Products Show Markedly Reduced Cross-reactivities Against Omicron Variants.

Journal of clinical immunology
2023

Co-Occurring X-Linked Agammaglobulinemia and X-Linked Chronic Granulomatous Disease: Two Isolated Pathogenic Variants in One Patient.

Biomedicines
2023

SARS-CoV-2 infection in a X-linked agammaglobulinemia adolescent: An immunological approach to treatment.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
2023

Outcomes among racial and ethnic minority groups with X-linked agammaglobulinemia from the USIDNET registry.

The journal of allergy and clinical immunology. In practice
2023

Haematopoietic Stem Cell Transplantation (HSCT) for Primary Immune System Disorders in Children: A Single Centre Experience.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
2023

The Importance of Endoscopy with Biopsy: Real-World Evidence of Gastrointestinal Involvement in Primary Immunodeficiency in Two Main Northern Italian Centres.

Biomedicines
2022

X-Linked Agammaglobulinemia Leading to Chronic Obstructive Lung Disease.

Cureus
2022

Relapsing Helicobacter cinaedi Cellulitis without Bacteremia in a Patient with X-linked Agammaglobulinemia after 1 Year of Antibiotic Prophylaxis.

Skinmed
2023

A case of rare splice-site Bruton's tyrosine kinase mutation with atypical X-linked agammaglobulinemia.

Annals of allergy, asthma &amp; immunology : official publication of the American College of Allergy, Asthma, &amp; Immunology
2022

Case report: Evolution of pulmonary manifestations and virological markers in critical COVID-19 infection in Bruton's agammaglobulinemia.

Frontiers in immunology
2022

SARS-COV-2 infections in inborn errors of immunity: A single center study.

Frontiers in immunology
2022

Pharmacokinetics of convalescent plasma therapy in a COVID-19 patient with X-linked Agammaglobulinemia.

Clinical immunology communications
2022

Comparison of pulmonary lesions using lung ultrasound and high-resolution computed tomography in adult patients with primary humoral immunodeficiencies.

Frontiers in immunology
2022

Helicobacter trogontum Bacteremia and Lower Limb Skin Lesion in a Patient with X-Linked Agammaglobulinemia-A Case Report and Review of the Literature.

Pathogens (Basel, Switzerland)
2022

Cytomegalovirus Pneumonia in a Patient with X-Linked Agammaglobulinemia: A Case Report.

Medicina (Kaunas, Lithuania)
2022

Angiosarcoma in Long-Standing Nodular Regenerative Hyperplasia.

ACG case reports journal
2022

COVID-19 in unvaccinated patients with inborn errors of immunity-polish experience.

Frontiers in immunology
2023

Phenotype of BTK-lacking myeloid cells during prolonged COVID-19 and upon convalescent plasma.

European journal of haematology
2022

Immunogenicity and Safety of the Spikevax® (Moderna) mRNA SARS-CoV-2 Vaccine in Patients with Primary Humoral Immunodeficiency.

International archives of allergy and immunology
2022

Reactogenicity and immunogenicity of the second COVID-19 vaccination in patients with inborn errors of immunity or mannan-binding lectin deficiency.

Frontiers in immunology
2022

Newborn screening for severe combined immunodeficiency: The results of the first pilot TREC and KREC study in Ukraine with involving of 10,350 neonates.

Frontiers in immunology
2022

Meningoencephalitis in primary antibody deficiency: Our experience from northwest India.

Journal of neuroimmunology
2022

COVID-19-related health outcomes in people with primary immunodeficiency: A systematic review.

Clinical immunology (Orlando, Fla.)
2022

Successful treatment of atopic dermatitis with dupilumab in the setting of X-linked agammaglobulinemia.

The journal of allergy and clinical immunology. In practice
2022

Immunodeficiency syndromes differentially impact the functional profile of SARS-CoV-2-specific T cells elicited by mRNA vaccination.

Immunity
2022

Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Frontiers in immunology
2023

Nodular Skin Lesions in a Patient With X-Linked Agammaglobulinemia.

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America
2022

Immunologic Control of Disseminated Aichi Virus Infection in X-Linked Agammaglobulinemia by Transplantation of TcRαβ-Depleted Haploidentical Hematopoietic Cells.

Journal of clinical immunology
2022

Successful use of dupilumab to treat eczema in a child with X-linked agammaglobulinemia.

Annals of allergy, asthma &amp; immunology : official publication of the American College of Allergy, Asthma, &amp; Immunology
2022

Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.

Scientific reports
2022

A Novel BLNK Gene Mutation in a Four-Year-Old Child Who Presented with Late Onset of Severe Infections and High IgM Levels and Diagnosed and Followed as X-Linked Agammaglobulinemia for Two Years.

Case reports in immunology
2022

[Antibody deficiencies in adults. Forty years of follow up].

Medicina
2022

Neutralizing SARS-CoV-2 Antibodies in Commercial Immunoglobulin Products Give Patients with X-Linked Agammaglobulinemia Limited Passive Immunity to the Omicron Variant.

Journal of clinical immunology
2022

Campylobacter jejuni Pericarditis: A Case Report.

Acta medica portuguesa
2022

Ecthyma gangrenosum as a presenting feature of X-linked agammaglobulinemia: A case study.

Pediatrics and neonatology
2022

Immunogenicity of the mRNA-1273 COVID-19 vaccine in adult patients with inborn errors of immunity.

The Journal of allergy and clinical immunology
2022

Specific T-cell responses for guiding treatment with convalescent plasma in severe COVID-19 and humoral immunodeficiency: a case report.

BMC infectious diseases
2023

Keratoconjunctivitis as a Single Entity in X-linked Agammaglobulinemia?

Ocular immunology and inflammation
2022

Improved HUMARA for the Detection of X-Linked Agammaglobulinemia Carriers.

Genetic testing and molecular biomarkers
2022

Clinical and genetic findings in two siblings with X-Linked agammaglobulinemia and bronchiolitis obliterans: a case report.

BMC pediatrics
2022

SARS-CoV-2-Specific and Functional Cytotoxic CD8 Cells in Primary Antibody Deficiency: Natural Infection and Response to Vaccine.

Journal of clinical immunology
2022

Responses to SARS-CoV-2 Vaccines of Patients with Common Variable Immune Deficiencies and X-linked Agammaglobulinemia.

Journal of clinical immunology
2022

Chronic immune thrombocytopenia in a child with X-linked agammaglobulinemia-an uncommon phenotype.

Platelets
2022

X-Linked Agammaglobulinemia: Infection Frequency and Infection-Related Mortality in the USIDNET Registry.

Journal of clinical immunology
2022

Health-Related Quality of Life in 91 Patients with X-Linked Agammaglobulinemia.

Journal of clinical immunology
2022

Autism in a Child With X-linked Agammaglobulinemia.

Cureus
2022

Identification of four novel mutations in BTK from six Chinese families with X-linked agammaglobulinemia.

Clinica chimica acta; international journal of clinical chemistry
2022

Do reduced numbers of plasmacytoid dendritic cells contribute to the aggressive clinical course of COVID-19 in chronic lymphocytic leukaemia?

Scandinavian journal of immunology
2022

The inhibitory coreceptor CD22 restores B cell signaling by developmentally regulating Cd45-/- immunodeficient B cells.

Science signaling
2021

Infections With Enterohepatic Non-H. pylori Helicobacter Species in X-Linked Agammaglobulinemia: Clinical Cases and Review of the Literature.

Frontiers in cellular and infection microbiology
2022

Retrospective study of 98 patients with X-linked agammaglobulinemia complicated with arthritis.

Clinical rheumatology
2022

Rheumatologic diseases in patients with inborn errors of immunity in the USIDNET registry.

Clinical rheumatology
2022

Clinical and laboratory observation on immunoglobulin replacement therapy switching from an intravenous to a subcutaneous route in a Malaysian X-linked agammaglobulinemia patient.

The Medical journal of Malaysia
2022

Clinical, immunological and genomic characteristics of children with X-linked agammaglobulinemia from Kerala, South India.

Human immunology
2022

A comparison of DNA repair pathways to achieve a site-specific gene modification of the Bruton's tyrosine kinase gene.

Molecular therapy. Nucleic acids
2022

X-Linked Agammaglobulinemia with Kawasaki Disease.

Indian journal of pediatrics
2022

B cell repertoire in patients with a novel BTK mutation: expanding the spectrum of atypical X-linked agammaglobulinemia.

Immunologic research
2021

Pulmonary Radiological Manifestations of Humoral and Combined Immunodeficiencies in a Tertiary Pediatric Center.

Iranian journal of allergy, asthma, and immunology
2021

Bruton's Tyrosine Kinase Inhibitors Impair FcγRIIA-Driven Platelet Responses to Bacteria in Chronic Lymphocytic Leukemia.

Frontiers in immunology
2022

An X-linked agammaglobulinemia (XLA) patient with fever and disturbance of consciousness: infection with Torque teno virus?

International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases
2022

Treatment of chronic or relapsing COVID-19 in immunodeficiency.

The Journal of allergy and clinical immunology
2021

[Genetic study of an X-linked agammaglobulinemia pedigree caused by an BTK mutation].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2021

Autoimmunity in Primary Immunodeficiency Disorders: An Updated Review on Pathogenic and Clinical Implications.

Journal of clinical medicine
2021

SARS-CoV-2 Vaccine Induced Atypical Immune Responses in Antibody Defects: Everybody Does their Best.

Journal of clinical immunology
2021

Circulating bioactive bacterial DNA is associated with immune activation and complications in common variable immunodeficiency.

JCI insight
2021

SARS-CoV-2 Infection in an Adolescent With X-linked Agammaglobulinemia.

The Pediatric infectious disease journal
2021

COVID-19 and X-linked agammaglobulinemia (XLA) - insights from a monogenic antibody deficiency.

Current opinion in allergy and clinical immunology
2021

Streptococcal pneumonia meningitis as an initial presentation of X-linked agammaglobulinemia: A case report and discussion.

Journal of the American College of Emergency Physicians open
2022

Nutritional status of children with primary immunodeficiency: A single center experience.

Pediatrics international : official journal of the Japan Pediatric Society
2021

Peripheral B Cell Deficiency and Predisposition to Viral Infections: The Paradigm of Immune Deficiencies.

Frontiers in immunology
2021

X-Linked Agammaglobulinemia and COVID-19: Two Case Reports and Review of Literature.

Pediatric allergy, immunology, and pulmonology
2021

Naïve Regulatory T Cell Subset Is Altered in X-Linked Agammaglobulinemia.

Frontiers in immunology
2021

BTK inhibitors for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2): A systematic review.

Clinical immunology (Orlando, Fla.)
2021

Longitudinal study of a SARS-CoV-2 infection in an immunocompromised patient with X-linked agammaglobulinemia.

The Journal of infection
2022

One-year intravenous immunoglobulin replacement therapy: efficacy in reducing hospital admissions in pediatric patients with Inborn Errors of Immunity.

Jornal de pediatria
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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. Involvement of Btk in Cardiovascular Disease and Its Therapeutic Targeting.
    Circulation· 2026· PMID 41662453mais citado
  2. T-Cell Receptor Excision Circle/Kappa-Deleting Recombination Excision Circle-Based Newborn Screening Program for Severe Combined Immunodeficiency in Kumamoto, Japan.
    Cell biochemistry and biophysics· 2026· PMID 40892369mais citado
  3. A patient with WHIM syndrome presenting relatively low TREC, KREC, and housekeeping gene levels by newborn screening -a case report and the literature review.
    Immunological medicine· 2026· PMID 41793776mais citado
  4. Novel indications for hematopoietic stem cell transplantation in inborn errors of immunity.
    Expert review of clinical immunology· 2026· PMID 41786511mais citado
  5. Bilateral idiopathic peripapillary choroidal neovascularization in a child with bruton disease: a case report.
    BMC ophthalmology· 2026· PMID 41776486mais citado
  6. Purulent meningitis in X-linked agammaglobulinemia: one case report.
    Front Immunol· 2026· PMID 41988175recente
  7. Bruton protein-tyrosine kinase (BTK) FDA-approved small molecule inhibitors used for the management of neoplastic and inflammatory disorders.
    Pharmacol Res· 2026· PMID 41937093recente
  8. Delayed Diagnoses of X-linked Agammaglobulinemia, Making the Case for Newborn Screening.
    Ann Allergy Asthma Immunol· 2026· PMID 41932436recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:47(Orphanet)
  2. OMIM OMIM:300755(OMIM)
  3. MONDO:0010421(MONDO)
  4. GARD:1033(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q283108(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

Compêndio · Raras BR

Agamaglobulinemia ligada ao X

ORPHA:47 · MONDO:0010421
🇧🇷 Brasil SUS
Triagem
KREC (Kappa-deleting Recombination Excision Circles)
PNTN
Fase 4
Incidência BR
1:200.000
Geral
Prevalência
1-9 / 1 000 000
Herança
X-linked recessive
CID-10
D80.0 · Hipogamaglobulinemia hereditária
CID-11
Ensaios
2 ativos
Início
Childhood
Prevalência
0.1 (Europe)
MedGen
UMLS
C0221026
EuropePMC
Wikidata
Papers 10a
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