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NÃO RARA NA EUROPA: Deficiência de imunoglobulina A
ORPHA:69127CID-10 · D80.2DOENÇA RARA

Disgamaglobulinemia caracterizada por níveis séricos baixos ou indetectáveis ​​de imunoglobulina classe A (IgA). É a deficiência primária de anticorpos mais comum. Pode ser herdado ou uma sequela reversível de infecção ou de certos medicamentos. Pode ser causado por uma mudança de classe diminuída ou ineficiente das células B progenitoras, sem quaisquer diminuições correspondentes nos outros isotipos. Embora as pessoas afetadas possam ser assintomáticas, níveis baixos de IgA reduzirão a capacidade do sistema imunológico de combater infecções onde a IgA é normalmente secretada, nas superfícies mucosas. A deficiência seletiva de IgA é observada em maior proporção entre pacientes com doenças autoimunes.

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Introdução

O que você precisa saber de cara

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Disgamaglobulinemia caracterizada por níveis séricos baixos ou indetectáveis ​​de imunoglobulina classe A (IgA). É a deficiência primária de anticorpos mais comum. Pode ser herdado ou uma sequela reversível de infecção ou de certos medicamentos. Pode ser causado por uma mudança de classe diminuída ou ineficiente das células B progenitoras, sem quaisquer diminuições correspondentes nos outros isotipos. Embora as pessoas afetadas possam ser assintomáticas, níveis baixos de IgA reduzirão a capacidade do sistema imunológico de combater infecções onde a IgA é normalmente secretada, nas superfícies mucosas. A deficiência seletiva de IgA é observada em maior proporção entre pacientes com doenças autoimunes.

🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: D80.2
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Sinais e sintomas

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

Partes do corpo afetadas

🫃
Digestivo
3 sintomas
🫁
Pulmão
2 sintomas
🛡️
Imunológico
2 sintomas
🩸
Sangue
1 sintomas

+ 3 sintomas em outras categorias

Características mais comuns

Infecções respiratórias recorrentes
Morfologia anormal de linfócitos
Infecções sinopulmonares recorrentes
Nível diminuído de IgA circulante
Infecções recorrentes
Infecção recorrente do trato gastrointestinal
11sintomas
Sem dados (11)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 11 características clínicas mais associadas, ordenadas por frequência.

Infecções respiratórias recorrentesRecurrent respiratory infections
Morfologia anormal de linfócitosAbnormal lymphocyte morphology
Infecções sinopulmonares recorrentesRecurrent sinopulmonary infections
Nível diminuído de IgA circulanteDecreased circulating IgA level
Infecções recorrentesRecurrent infections

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa10
Últimos 10 anos4publicações
Pico20161 papers
Linha do tempo
20202016Hoje · 2026
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição.

TNFRSF13BTumor necrosis factor receptor superfamily member 13BDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Receptor for TNFSF13/APRIL and TNFSF13B/TALL1/BAFF/BLYS that binds both ligands with similar high affinity. Mediates calcineurin-dependent activation of NF-AT, as well as activation of NF-kappa-B and AP-1. Involved in the stimulation of B- and T-cell function and the regulation of humoral immunity

LOCALIZAÇÃO

Membrane

VIAS BIOLÓGICAS (1)
TNFs bind their physiological receptors
MECANISMO DE DOENÇA

Immunodeficiency, common variable, 2

A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low.

EXPRESSÃO TECIDUAL(Tecido-específico)
Linfócitos
214.4 TPM
Baço
29.6 TPM
Intestino delgado
7.7 TPM
Sangue
1.5 TPM
Cólon transverso
1.4 TPM
OUTRAS DOENÇAS (2)
immunoglobulin A deficiency 2immunodeficiency, common variable, 2
HGNC:18153UniProt:O14836

Variantes genéticas (ClinVar)

181 variantes patogênicas registradas no ClinVar.

🧬 TNFRSF13B: GRCh38/hg38 17p11.2(chr17:16832948-20527478)x1 ()
🧬 TNFRSF13B: NM_012452.3(TNFRSF13B):c.452dup (p.Leu153fs) ()
🧬 TNFRSF13B: NM_012452.3(TNFRSF13B):c.141C>A (p.Cys47Ter) ()
🧬 TNFRSF13B: NM_012452.3(TNFRSF13B):c.754del (p.Asp252fs) ()
🧬 TNFRSF13B: GRCh37/hg19 17p11.2(chr17:16825937-20217777)x1 ()
Ver todas no ClinVar

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

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Onde tratar no SUS

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

🇧🇷 Atendimento SUS — NÃO RARA NA EUROPA: Deficiência de imunoglobulina A

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Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Allergic Diseases in Common Variable Immunodeficiency: A Prospective Cross-Sectional Study on Prevalence and Allergy Biomarkers of Clinical Phenotypes.

Scandinavian journal of immunology2026 Mar

The link between allergic conditions and common variable immunodeficiency (CVID) is still unclear. Only a few studies suggest allergic diseases are more prevalent in CVID patients than in the general population, and the role of IgE remains poorly defined. This study aims to evaluate the prevalence of allergic conditions in CVID and the role of serum IgE and IgA levels. This prospective, cross-sectional, case-control study enrolled Italian adult CVID patients to investigate allergic conditions' frequency and relationships between IgE, IgA, and clinical phenotypes. Analyses of diagnostic/prognostic accuracy were performed with ROC curves. We documented an allergic disease in 26.6% of 60 CVID patients, most commonly allergic rhinitis (56.2%) and bronchial asthma (12.5%). CVID patients with allergy had higher IgE levels (+8.9 kU/L, p = 0.006) than non-allergic ones, but lower than allergic individuals without CVID. IgE deficiency was observed in 65% of CVID patients, with a strong correlation between IgE and IgA levels (r = 0.7, p < 0.001). Low IgE (< 2.5 kU/L) and IgA levels (< 7 mg/dL) were significantly associated with lymphoproliferative (p < 0.001) and granulomatous phenotypes (p = 0.005), achieving an AUC of 94% and 81% for predicting lymphoproliferation and granulomatosis, respectively. The prevalence of allergic conditions in CVID patients is lower compared with previous studies. Low IgE levels served as a good biomarker for CVID and CVID-phenotypes. Combined serum IgE and IgA assessment improved prognostic stratification.

#2

The gut-lung axis in celiac disease: a narrative review of pulmonary manifestations and pathogenic mechanisms.

Gastroenterology and hepatology from bed to bench2025

This narrative review synthesizes current evidence on the association between Celiac disease (CD) and pulmonary disorders, explores underlying mechanisms, and highlights clinical implications and future research directions. CD is a chronic autoimmune enteropathy triggered by gluten ingestion in genetically predisposed individuals. Although it primarily affects the small intestine, emerging evidence implicates extraintestinal involvement, particularly of the respiratory system, suggesting a potential gut-lung axis. This narrative review was conducted using PubMed, Scopus, and Web of Science, covering literature published in English up to October 2025. Search terms combined 'celiac disease' OR 'coeliac disease' with ('lung disease' OR 'pulmonary' OR 'respiratory tract' OR 'asthma' OR 'bronchiectasis' OR 'COPD' OR 'interstitial lung disease' OR 'pulmonary hemosiderosis'). Inclusion criteria were peer-reviewed human studies reporting pulmonary manifestations in celiac disease. Exclusion criteria included non-English language, in vitro or animal studies, abstracts without full text, and insufficient clinical or mechanistic data. This was not a systematic review, and therefore no PRISMA flow diagram was generated." Large-scale registry studies in Scandinavia and case-based evidence across Europe and Asia support a spectrum of pulmonary manifestations in celiac disease, ranging from asthma and chronic cough to rare but life-threatening idiopathic pulmonary hemosiderosis. Asthma and chronic cough were the most commonly observed associations, with population-based studies reporting an elevated risk. Case reports and small cohorts described co-occurrence with bronchiectasis and interstitial lung disease, while rare cases confirmed links to idiopathic pulmonary hemosiderosis (Lane-Hamilton syndrome). Proposed mechanisms include systemic immune activation, increased intestinal and pulmonary permeability, micronutrient deficiencies, IgA deficiency, and chronic inflammation. Notably, several studies reported symptom improvement or resolution following a gluten-free diet (GFD). Pulmonary manifestations of CD, though relatively uncommon, are clinically significant and often reversible with dietary intervention. Greater awareness, early recognition, and mechanistic research are essential to optimize patient outcomes.

#3

IgA Nephropathy: Pleiotropic impact of Epstein-Barr virus infection on immunopathogenesis and racial incidence of the disease.

Frontiers in immunology2023

IgA nephropathy (IgAN) is an autoimmune disease in which poorly galactosylated IgA1 is the antigen recognized by naturally occurring anti-glycan antibodies, leading to formation of nephritogenic circulating immune complexes. Incidence of IgAN displays geographical and racial disparity: common in Europe, North America, Australia, and east Asia, uncommon in African Americans, many Asian and South American countries, Australian Aborigines, and rare in central Africa. In analyses of sera and cells from White IgAN patients, healthy controls, and African Americans, IgAN patients exhibited substantial enrichment for IgA-expressing B cells infected with Epstein-Barr virus (EBV), leading to enhanced production of poorly galactosylated IgA1. Disparities in incidence of IgAN may reflect a previously disregarded difference in the maturation of the IgA system as related to the timing of EBV infection. Compared with populations with higher incidences of IgAN, African Americans, African Blacks, and Australian Aborigines are more frequently infected with EBV during the first 1-2 years of life at the time of naturally occurring IgA deficiency when IgA cells are less numerous than in late childhood or adolescence. Therefore, in very young children EBV enters "non-IgA" cells. Ensuing immune responses prevent infection of IgA B cells during later exposure to EBV at older ages. Our data implicate EBV-infected cells as the source of poorly galactosylated IgA1 in circulating immune complexes and glomerular deposits in patients with IgAN. Thus, temporal differences in EBV primo-infection as related to naturally delayed maturation of the IgA system may contribute to geographic and racial variations in incidence of IgAN.

#4

Cross-sectional study of coeliac autoimmunity in a population of Vietnamese children.

BMJ open2016 Jun 21

The prevalence of coeliac disease (CD) in Vietnam is unknown. To fill this void, we assessed the prevalence of serological markers of CD autoimmunity in a population of children in Hanoi. The outpatient blood drawing laboratory of the largest paediatric hospital in North Vietnam was used for the study, which was part of an international project of collaboration between Italy and Vietnam. Children having blood drawn for any reason were included. Exclusion criteria were age younger than 2 years, acquired or congenital immune deficiency and inadequate sample. A total of 1961 children (96%) were enrolled (838 females, 1123 males, median age 5.3 years). Primary outcome was the prevalence of positive autoimmunity to both IgA antitransglutaminase antibodies (anti-tTG) assessed with an ELISA test and antiendomysial antibodies (EMA). Secondary outcome was the prevalence of CD predisposing human leucocyte antigens (HLA) (HLA DQ2/8) in the positive children and in a random group of samples negative for IgA anti-tTG. The IgA anti-tTG test was positive in 21/1961 (1%; 95% CI 0.61% to 1.53%); however, EMA antibodies were negative in all. HLA DQ2/8 was present in 7/21 (33%; 95% CI 14.5% to 56.9%) of the anti-tTG-positive children and in 72/275 (26%; 95% CI 21% to 32%) of those who were negative. Coeliac autoimmunity is rare in Vietnam, although prevalence of HLA DQ2/8 is similar to that of other countries. We hypothesise that the scarce exposure to gluten could be responsible for these findings.

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Doenças relacionadas

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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. Allergic Diseases in Common Variable Immunodeficiency: A Prospective Cross-Sectional Study on Prevalence and Allergy Biomarkers of Clinical Phenotypes.
    Scandinavian journal of immunology· 2026· PMID 41845886mais citado
  2. The gut-lung axis in celiac disease: a narrative review of pulmonary manifestations and pathogenic mechanisms.
    Gastroenterology and hepatology from bed to bench· 2025· PMID 41777910mais citado
  3. IgA Nephropathy: Pleiotropic impact of Epstein-Barr virus infection on immunopathogenesis and racial incidence of the disease.
    Frontiers in immunology· 2023· PMID 36865536mais citado
  4. Cross-sectional study of coeliac autoimmunity in a population of Vietnamese children.
    BMJ open· 2016· PMID 27329441mais citado
  5. Clinical Efficacy of Serum Antiglycopeptidolipid Core IgA Antibody Test for Screening Nontuberculous Mycobacterial Pulmonary Disease in Bronchiectasis: A European Multicenter Cohort Study.
    Chest· 2025· PMID 39490969recente
  6. Epidemiology and clinical characteristics of biopsy-confirmed adult-onset IgA vasculitis in southern Sweden.
    RMD Open· 2024· PMID 38316490recente
  7. Multiplex Antibody Analysis of IgM, IgA and IgG to SARS-CoV-2 in Saliva and Serum From Infected Children and Their Close Contacts.
    Front Immunol· 2022· PMID 35154094recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:69127(Orphanet)
  2. MONDO:0001341(MONDO)
  3. Variantes catalogadas(ClinVar)
  4. Busca completa no PubMed(PubMed)
  5. Artigo Wikipedia(Wikipedia)
  6. Q942926(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

NÃO RARA NA EUROPA: Deficiência de imunoglobulina A
Compêndio · Raras BR

NÃO RARA NA EUROPA: Deficiência de imunoglobulina A

ORPHA:69127 · MONDO:0001341
CID-10
D80.2 · Deficiência seletiva de imunoglobulina A [IgA]
UMLS
C0162538
Wikidata
Wikipedia
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