A diminuição dos níveis de imunoglobulinas no sangue. Pode ser algo genético (de nascença) ou adquirido ao longo da vida. A causa é uma produção menor ou que não funciona bem das imunoglobulinas pelas células B, ou uma quantidade reduzida das próprias células B. Níveis baixos de imunoglobulinas prejudicam a capacidade do sistema de defesa do corpo de combater infecções causadas por bactérias. É necessário fazer a reposição de imunoglobulinas para evitar que o quadro de saúde piore.
Introdução
O que você precisa saber de cara
X-linked agammaglobulinemia (XLA) é uma condição que afeta o sistema imunológico e ocorre quase que exclusivamente em homens. Faz parte de um grupo de distúrbios chamados imunodeficiências primárias (ou erros inatos da imunidade), nos quais parte do sistema imunológico não funciona como deveria. Pessoas com XLA têm muito poucas células B, que são glóbulos brancos especializados que ajudam a proteger o corpo contra infecções. As células B podem amadurecer e se transformar nas células que produzem proteínas especiais chamadas anticorpos ou imunoglobulinas. Os anticorpos se ligam a partículas e germes estranhos específicos, marcando-os para destruição. Indivíduos com XLA são mais suscetíveis a infecções porque seu corpo produz muito poucos anticorpos.
Crianças com XLA geralmente são saudáveis nos primeiros 1 ou 2 meses de vida porque são protegidas pelos anticorpos adquiridos antes do nascimento pela mãe. Após esse período, os anticorpos maternos são eliminados do corpo, e a criança afetada começa a desenvolver infecções recorrentes. .cf0{font-style:italic;font-family:Segoe UI;font-size:9pt;}Crianças com XLA geralmente demoram mais para se recuperar das infecções, e as infecções costumam ocorrer novamente, mesmo em crianças que estão tomando medicamentos antibióticos.
As infecções bacterianas mais comuns que ocorrem em pessoas com XLA são infecções pulmonares (pneumonia e bronquite), infecções de ouvido (otite), conjuntivite (olho rosa) e infecções sinusais (sinusite). Infecções que causam diarreia crônica também são frequentes. Infecções recorrentes podem levar a danos nos órgãos. .cf0{font-style:italic;font-family:Segoe UI;font-size:9pt;}Tratamentos que substituem anticorpos podem ajudar a prevenir infecções, melhorando a qualidade de vida das pessoas com XLA.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoA diminuição dos níveis de imunoglobulinas no sangue. Pode ser algo genético (de nascença) ou adquirido ao longo da vida. A causa é uma produção menor ou que não funciona bem das imunoglobulinas pelas células B, ou uma quantidade reduzida das próprias células B. Níveis baixos de imunoglobulinas prejudicam a capacidade do sistema de defesa do corpo de combater infecções causadas por bactérias. É necessário fazer a reposição de imunoglobulinas para evitar que o quadro de saúde piore.
O que está sendo pesquisado
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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
+ 116 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 287 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Triagem neonatal (Teste do Pezinho)
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
28 genes identificados com associação a esta condição.
Immunodeficiency, common variable, 1
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.
Immunodeficiency 61
An X-linked recessive primary immunologic disorder characterized by recurrent infections due to impaired antibody production. Affected individuals have normal numbers of circulating B and T cells, but B cells have an intrinsic defect in antibody production. Disease severity is variable and onset is in early childhood.
Agammaglobulinemia 7, autosomal recessive
A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.
Immunodeficiency, common variable, 4
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.
Immunodeficiency, common variable, 8, with autoimmunity
An autosomal recessive immunologic disorder associated with defective B-cell differentiation and decreased or absent antibody production. Affected individuals have early-childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease.
Agammaglobulinemia 6, autosomal recessive
A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.
Agammaglobulinemia 10, autosomal dominant
A form of agammaglobulinemia, a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.
Immunodeficiency, common variable, 5
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.
Immunodeficiency, common variable, 3
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.
Agammaglobulinemia 2, autosomal recessive
A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.
Immunodeficiency, common variable, 6
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.
Immunodeficiency, common variable, 12, with autoimmunity
A primary immunodeficiency characterized by hypogammaglobulinemia and recurrent bacterial infections. About half of patients develop autoimmune features, including cytopenia, as well as generalized inflammation and lymphoproliferation manifest as lymphadenopathy or hepatosplenomegaly.
Tubulointerstitial kidney disease, autosomal dominant 5
A form of autosomal dominant tubulointerstitial kidney disease, a genetically heterogeneous disorder characterized by slowly progressive loss of kidney function, bland urinary sediment, hyperuricemia, absent or mildly increased albuminuria, lack of severe hypertension during the early stages, and normal or small kidneys on ultrasound. Renal histology shows variable abnormalities including interstitial fibrosis with tubular atrophy, microcystic dilatation of the tubules, thickening of tubular basement membranes, medullary cysts, and secondary glomerulosclerotic or glomerulocystic changes with abnormal glomerular tufting. There is significant variability, as well as incomplete penetrance.
Immunodeficiency, common variable, 11
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.
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.
Agammaglobulinemia 9, autosomal recessive
A form of agammaglobulinemia, a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.
Agammaglobulinemia 3, autosomal recessive
A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.
Agammaglobulinemia 1, autosomal recessive
A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.
Systemic lupus erythematosus 9
A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.
Agammaglobulinemia 5, autosomal dominant
A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.
Agammaglobulinemia 4, autosomal recessive
A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.
Immunodeficiency 14A with lymphoproliferation, autosomal dominant
A disorder characterized by recurrent respiratory infections, progressive airway damage, lymphopenia, increased circulating transitional B cells, increased immunoglobulin M, reduced immunoglobulin G2 levels in serum, and impaired vaccine responses.
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.
Immunodeficiency, common variable, 14
A primary immunodeficiency resulting in recurrent sinopulmonary infections since early childhood, and characterized by hypogammaglobulinemia with undetectable IgG and IgA, poor response to vaccination, and decreased levels of switched memory B cells. CVID14 inheritance is autosomal dominant.
Medicamentos e terapias
Mecanismo: PI3-kinase p110-delta subunit inhibitor
Mecanismo: PI3-kinase p110-delta subunit inhibitor
Mecanismo: PI3-kinase p110-delta subunit inhibitor
Mecanismo: 1-phosphatidylinositol 3-phosphate 5-kinase inhibitor
Variantes genéticas (ClinVar)
844 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 2.427 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
109 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Agamaglobulinemia
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
Ensaios em destaque
Com ensaio aberto em 21 países. O ponto verde marca onde há vaga agora.
🟢 Recrutando agora
10 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
46 ensaios clínicos encontrados, 13 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 642
Rituximab-induced hypogammaglobulinemia in childhood nephrotic syndrome: a systematic review and meta-analysis.
Este estudo revelou que o Rituximab, usado para síndrome nefrótica pediátrica complicada, induz hipogamaglobulinemia (baixos níveis de anticorpos) em cerca de 11% das crianças. Essa condição aumenta significativamente o risco de infecções graves, ocorrendo em 18% dos casos de hipogamaglobulinemia e podendo ser fatais, como observado em quatro pacientes. Assim, médicos e famílias devem ponderar cuidadosamente os riscos de infecções potencialmente fatais contra a eficácia do Rituximab no manejo da doença.
🇧🇷 traduzidoInvolvement of Btk in Cardiovascular Disease and Its Therapeutic Targeting.
A tirosina quinase de Bruton (Btk) é fundamental na trombose e doenças cardiovasculares. É crucial para pacientes e médicos saber que indivíduos com agamaglobulinemia ligada ao X, que naturalmente não possuem Btk, não demonstram tendência a sangramentos, o que sugere que a inibição seletiva da Btk pode ser uma estratégia antitrombótica segura. Inibidores de Btk (BTKi), já usados para outras condições, emergem como novos agentes antitrombóticos promissores, com as versões mais recentes sendo mais seletivas e seguras, minimizando efeitos colaterais como sangramento e arritmias cardíacas.
🇧🇷 traduzidoComparative Safety Profiles of Ocrelizumab and Rituximab in Multiple Sclerosis Treatment Using Real-World Evidence.
Um estudo recente comparou a segurança a longo prazo de ocrelizumab e rituximab no tratamento da esclerose múltipla, utilizando dados de prática clínica real. Os resultados mostraram que o rituximab foi associado a taxas significativamente mais altas de hospitalização e a um risco maior de desenvolver hipogamaglobulinemia em comparação com o ocrelizumab. Essas descobertas sugerem um perfil de segurança mais favorável para o ocrelizumab, sendo importante para médicos e pacientes na decisão de qual medicação usar para Esclerose Múltipla, especialmente considerando o risco de redução dos níveis de gamaglobulinas.
🇧🇷 traduzidoT-Cell Receptor Excision Circle/Kappa-Deleting Recombination Excision Circle-Based Newborn Screening Program for Severe Combined Immunodeficiency in Kumamoto, Japan.
Este estudo demonstra que o programa de triagem neonatal combinado com marcadores TREC e KREC é eficaz para detectar precocemente imunodeficiências graves de células T e B, como a agamaglobulinemia ligada ao X, permitindo um diagnóstico e intervenção cruciais. Em Kumamoto, Japão, este rastreio identificou linfopenia de células T e um caso de agamaglobulinemia ligada ao X. No entanto, é fundamental que médicos e pacientes saibam que fatores como prematuridade, baixo peso ao nascer e exposição materna a certos medicamentos (ex: azatioprina) podem afetar os resultados, exigindo uma interpretação cuidadosa para evitar ansiedade desnecessária ou diagnósticos incorretos.
🇧🇷 traduzidoA novel SPI1 variant (c.566T > C (p.Ile189Thr)) possibly associated with autosomal dominant agammaglobulinemia in a Chinese girl.
Publicações recentes
Purulent meningitis in X-linked agammaglobulinemia: one case report.
Bruton protein-tyrosine kinase (BTK) FDA-approved small molecule inhibitors used for the management of neoplastic and inflammatory disorders.
Delayed Diagnoses of X-linked Agammaglobulinemia, Making the Case for Newborn Screening.
Functional rescue of a disease-linked ERAD pathway mutation via alternative splicing.
Investigating serum free light chains in patients with common variable immunodeficiency disorder in compare with other immunodeficiency diseases.
📚 EuropePMC1.186 artigos no totalmostrando 196
Functional rescue of a disease-linked ERAD pathway mutation via alternative splicing.
The EMBO journalRituximab-induced hypogammaglobulinemia in childhood nephrotic syndrome: a systematic review and meta-analysis.
European journal of pediatricsHypogammaglobulinemia during infancy and atopic dermatitis.
Allergy and asthma proceedingsInvestigating serum free light chains in patients with common variable immunodeficiency disorder in compare with other immunodeficiency diseases.
Scientific reportsFlat dose intravenous immunoglobulin primary infection prophylaxis in multiple myeloma patients on BCMA and GPRC5D bispecific antibody therapy: the Vanderbilt experience.
Frontiers in immunologyA patient with WHIM syndrome presenting relatively low TREC, KREC, and housekeeping gene levels by newborn screening -a case report and the literature review.
Immunological medicineNovel indications for hematopoietic stem cell transplantation in inborn errors of immunity.
Expert review of clinical immunologyCase Report: Novel MAGT1 pathogenic variant with significant atopy, hypogammaglobulinemia and viral skin infections.
Frontiers in immunologyBilateral idiopathic peripapillary choroidal neovascularization in a child with bruton disease: a case report.
BMC ophthalmologyA novel SPI1 variant (c.566T > C (p.Ile189Thr)) possibly associated with autosomal dominant agammaglobulinemia in a Chinese girl.
BMC pediatricsFirst 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.
Frontiers in immunologyPre- 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.)Good's Syndrome Mirrors a Combined Immunodeficiency with Anti-Cytokine Antibodies in the Total Absence of B Cells.
Journal of clinical immunologyImmuno-deficient features of thymoma-associated myasthenia gravis patients with hypogammaglobulinemia: A condition comparable to Good's syndrome.
Journal of neuroimmunologyReal world predictors of hypogammaglobulinemia and serious infections in patients receiving ocrelizumab or ofatumumab for the treatment of multiple sclerosis: The REPLACE-MS study.
Multiple sclerosis (Houndmills, Basingstoke, England)Involvement of Btk in Cardiovascular Disease and Its Therapeutic Targeting.
CirculationStem cell transplantation in immuno-hematologic and infectious diseases.
World journal of transplantationCOVID-19 Outcomes and Risk Factors for Hospitalization in Adult Patients With Primary Immunodeficiency.
Allergy, asthma & immunology researchInsights into pulmonary lophomoniasis infection in a Bruton's disease patient; A case report study and literature review.
IDCasesPrimary Humoral Immunodeficiencies and Bronchiectasis in Adults.
Journal of clinical medicineA rare case of TCF3-related agammaglobulinemia in a child with recurrent Haemophilus influenzae bacteremia.
Proceedings (Baylor University. Medical Center)Human adenosine deaminase type 2 deficiency enhances NK cell activation but impairs maturation and function.
The Journal of clinical investigationPulmonary Manifestations of Inborn Errors of Immunity: Diagnostic and Therapeutic Insights.
Life (Basel, Switzerland)Immunoglobulin disorders in pediatric chronic rhinosinusitis.
Current opinion in allergy and clinical immunologyMultidrug-Resistant Campylobacter jejuni Bacteremia Case Following Sheepskin Wrap Application.
Vector borne and zoonotic diseases (Larchmont, N.Y.)P06 Adenosine deaminase deficient-severe combined immunodeficiency and multicentric dermatofibrosarcoma protuberans: an emerging association.
The British journal of dermatologyCase Report: A novel de novo SPI1 mutation identified in a Chinese patient with agammaglobulinemia.
Frontiers in immunologyBruton's Agammaglobulinemia: Case Series and Literature Review From King Fahad Central Hospital, Jizan, Saudi Arabia.
The American journal of case reportsRNA Sequencing Addresses a 5' UTR Variant Leading to X-Linked Agammaglobulinemia and Broader Immune Dysregulation.
Journal of clinical immunologyHypogammaglobulinemia and infection risks in multiple sclerosis patients receiving anti-CD20 monoclonal antibodies: Incidence, clinical implications, and longitudinal insights from a three-year Iranian cohort.
Multiple sclerosis and related disordersA 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)Diagnosis and Management of Cardiovascular Adverse Effects of Targeted Oncology Therapies: Bruton's Tyrosine Kinase, Immune Checkpoint, and Vascular Endothelial Growth Factor Inhibitors: 2025 ACC Concise Clinical Guidance: A Report of the American College of Cardiology Solution Set Oversight Committee.
Journal of the American College of CardiologyToll-like Receptors in Inborn Errors of Immunity in Children: Diagnostic Potential and Therapeutic Frontiers-A Review of the Latest Data.
CellsCutaneous Botryomycosis due to Burkholderia pyrrocinia in a Child With X-Linked Agammaglobulinemia: A Case Report.
Journal of paediatrics and child healthImpact of lymphopenia and hypogammaglobulinemia on outcomes in neutropenic patients with hematological malignancies.
International journal of hematologyClinical 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 ImmunologyGood's Syndrome-A Rare Cause of Acquired Adult Immunodeficiency: A Case Report.
The Journal of the Association of Physicians of IndiaCase Report: A simple case of drug-induced secondary antibody deficiency or a rare primary immune deficiency?
Frontiers in immunologyImpact of immunodeficiencies on immunity induced by SARS-CoV-2 infection, mRNA BNT162b2 vaccination, and their combination in children and young adults.
Frontiers in immunologyDiverse Phenotypic Expressions of ADA2 Deficiency: Two Case Studies.
Iranian journal of allergy, asthma, and immunologyEnterohepatic Non-H. pylori Helicobacter Infection in a Patient With X-Linked Agammaglobulinemia.
Pediatric dermatologySclerosing Cholangitis and Multiple Liver Abscesses in a Patient with Thymoma, Myasthenia Gravis, and Immune Deficiency (Good's Syndrome).
The American journal of case reportsBronchiectasis, 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 immunologyExpansion of Myeloid-Derived Suppressor Cells and Lymphocyte Apoptosis Beyond B-Cell Deficiency in X-Linked Agammaglobulinemia.
Scandinavian journal of immunologyNext-generation Sequencing and Other Second Tier Tests in Newborn Screening for (X-linked) Agammaglobulinemia.
Journal of clinical immunologyReal-world evidence from Japan in patients with hematological malignancies and secondary hypogammaglobulinemia treated with 20% subcutaneous immunoglobulin, Ig20Gly: A retrospective cohort study.
MedicineAdult-onset adenosine deaminase-2 deficiency presenting with recurrent juvenile cerebral infarction:A case report.
The journal of medical investigation : JMIFive Years of Combined Newborn Screening Quantifying TREC and KREC in Switzerland.
The journal of allergy and clinical immunology. In practiceMembranoproliferative glomerulonephritis in a young adult with X-linked agammaglobulinaemia.
BMJ case reportsDiagnostic Implications and Correlates of Plasma Adenosine Deaminase 2 Activity and ADA2 Variants.
Arthritis & rheumatology (Hoboken, N.J.)Novel SYK Variant Causes Enhanced SYK Autophosphorylation and PI3K Activation in an Antibody-Deficient Patient.
Journal of clinical immunologyEarly-onset neutropenia and mixed phenotype in ADA2 deficiency: diagnostic and therapeutic challenges.
Frontiers in immunologyStool Screening for Campylobacter Species in Hypogammaglobulinemic Patients Receiving Immunoglobulin Therapy.
Journal of clinical immunologyLong-Term Safety and Efficacy of Gene Therapy for Adenosine Deaminase Deficiency.
The New England journal of medicineTACI and BTK gene analysis in predominantly antibody deficiencies among the primary immunodeficiency disorder patients in Bangladesh.
Frontiers in medicinePrevalence of hypogammaglobulinemia after non-anti-CD20 therapies and impact of switching to rituximab/ocrelizumab in multiple sclerosis.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics[Primary immunodeficiency with hypogammaglobulinemia and minimum midline defect].
Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)[Ormond syndrome: a rare diagnosis in a patient with hypogammaglobulinemia secondary to rituximab].
Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)Bruton tyrosine kinase modulates systemic immune activation to bacterial translocation in primary antibody deficiencies.
The Journal of allergy and clinical immunologyThrombocytopenia in patients with inborn errors of immunity.
BMC immunologyThe prevalence of allergic manifestations in inborn errors of immunity: a retrospective cohort study.
BMC immunologyEarly-onset vasculitis: a toddler with ADA2 deficiency.
BMJ case reportsSerum sBCMA in primary and secondary antibody deficiency.
Clinical and experimental immunologyMonocyte plasticity and HLA-DR expression in patients with X-linked agammaglobulinemia.
Immunologic researchCase Report: Hematopoietic stem cell transplantation in an adult patient with X-linked agammaglobulinemia and severe refractory enteropathy.
Frontiers in immunologyIs 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 proceedingsCase Report: X-linked agammaglobulinemia with progressive neurodegeneration from immunological to neurological implications.
Frontiers in immunologyA rapid antigen test to detect adenosine deaminase 2 (ADA2) in biological fluids and its application in clinical diagnostics.
Frontiers in immunologyFree Light Chain Multiple Myeloma: Atypical Appearance on Serum Immunofixation.
Clinical laboratoryComparative Safety Profiles of Ocrelizumab and Rituximab in Multiple Sclerosis Treatment Using Real-World Evidence.
Annals of neurologyHematopoietic stem cell gene therapy for the treatment of X-linked agammaglobulinemia.
Molecular therapy. Methods & clinical developmentCase Report: A novel CXCR4 variant (p.S341Y) in a family with a pathogenic NFKB1 variant and variable clinical manifestations.
Frontiers in immunologyClinical and genetic features of UNC13D deficiency with hypogammaglobulinemia.
Frontiers in immunologyFatal X-linked agammaglobulinemia complicated by septic shock: a case report and comprehensive review of novel BTK mutations.
Frontiers in immunologyT-Cell Receptor Excision Circle/Kappa-Deleting Recombination Excision Circle-Based Newborn Screening Program for Severe Combined Immunodeficiency in Kumamoto, Japan.
Cell biochemistry and biophysicsPocapavir treatment of enterovirus encephalitis in a patient with X-linked Agammaglobulinemia.
Clinical immunology (Orlando, Fla.)Interstitial lung disease associated with immunodeficiency with hypogammaglobulinemia: Five case reports.
Respiratory investigationDominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers.
The Journal of experimental medicineEBV-Driven HLH and T Cell Lymphoma in a Child with X-Linked Agammaglobulinemia: A Genetically Confirmed Case Report and Literature Review.
Journal of personalized medicinePediatric and Adult Inborn Errors of Immunity and COVID-19: A Comparative Study.
Journal of medical virologyImpairment of Collagen-Induced Thrombus Formation in Microfluidic Assay Correlates with Bleeding Complications Better Than Cytofluorometric Parameters.
Thrombosis and haemostasisSelf-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis.
Journal of clinical immunologyImmunoglobulin G dynamics and outcomes of hypogammaglobulinemia in liver transplant recipients.
Scientific reportsSpectrum of BTK gene mutations in Vietnamese patients with X-linked agammaglobulinemia.
Molecular biology reportsStrongyloides Hyperinfection Treated with Subcutaneous Ivermectin in a Patient with an Inborn Error of Immunity.
The American journal of tropical medicine and hygieneDouble Trouble: A Case of ARDS as a Consequence of Influenza and Plasma Donation Causing Severe Neutropenia and Hypogammaglobulinemia.
Journal of investigative medicine high impact case reportsReal-world infectious complications of CD3/CD20 bispecific antibodies in relapsed/refractory non-Hodgkin lymphoma.
Leukemia & lymphomaShashi-Pena syndrome with late-onset specific hypogammaglobinaemia and autoimmune cytopenia.
BMJ case reportsFNIP1 Deficiency: Pathophysiology and Clinical Manifestations of a Rare Syndromic Primary Immunodeficiency.
Current issues in molecular biologyCase Report: Preserved umbilical cords underscore family histories of inborn errors of immunity.
Frontiers in immunologyInfection risk associated with hypogammaglobulinemia in patients with systemic lupus erythematosus: Real-world evidence from 2014 to 2024.
Clinical immunology (Orlando, Fla.)The impact of secondary hypogammaglobulinaemia in children with acute lymphoblastic leukaemia receiving maintenance chemotherapy.
British journal of haematologyFunctional rescue of a fatal ERAD mutation via alternative splicing.
bioRxiv : the preprint server for biologyParacentral acute middle maculopathy as a major clinical manifestation of adenosine deaminase-2 deficiency.
BMC ophthalmology[Clinical study on intravenous human immunoglobulin (pH4) for hypogammaglobulinemia and infection risk following CD20 monoclonal antibody therapy in patients with B-cell non-Hodgkin lymphoma].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhiSecondary hypogammaglobulinemia and lymphocytopenia in patients with inflammatory neurological diseases on anti-CD20 therapy: risk of infection and infection-related mortality.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyMolecular insight on the role of the phosphoinositide PIP3 in regulating the protein kinases Akt, PDK1, and BTK.
Biochemical Society transactionsX-linked Agammaglobulinemia First Diagnosed in Adulthood with Recurrent Pneumonia and Multiple Warty Skin Nodules.
Internal medicine (Tokyo, Japan)Adenosine and Adenosine Deaminase Contrary Manifestations in Immunity.
Scandinavian journal of immunologyClinical and Molecular Characteristics of X-Linked Agammaglobulinemia Patients 55 Years or Older.
The journal of allergy and clinical immunology. In practicePreclinical evaluation of lentiviral gene therapy for adenosine deaminase 2 deficiency (DADA2): engraftment efficiency and biodistribution in humanised NBSGW mice.
Gene therapyA Novel Homozygous CGA > TGA Mutation at Codon 123 (Exon 6) of B-Linker Protein (BLNK) as a Potential Cause of Hepatopathy and Rickets: A Case Report.
Iranian journal of immunology : IJIInhibition of lysosomal degradation increases expression of mutant ADA2 in DADA2 monocytes.
The Journal of allergy and clinical immunologyExploring the depths of hypogammaglobulinemia in lymphoid malignancies: Pathophysiology, clinical implications, management options, and future directions.
Blood reviewsEvidence- and Consensus-Based Recommendations for the Screening, Diagnosis, and Management of Secondary Hypogammaglobulinemia in Patients With Systemic Autoimmune Rheumatic Diseases by the Taiwan College of Rheumatology Experts.
International journal of rheumatic diseasesEfficacy of Subcutaneous Immunoglobulin in the Postoperative Management After Pediatric Living Donor Liver Transplantation.
Pediatric transplantationQuantifying the mutational landscape of retroviral and lentiviral vectors in gene therapy patients.
Molecular therapy : the journal of the American Society of Gene TherapyTwo case reports of B-cell lymphopenia associated with IGLL1 variants identified through newborn screening in Ukraine.
Frontiers in pediatricsIdentification and characterization of a novel human adenovirus type HAdV-D116.
Frontiers in microbiologyRisk factors predisposing children to transient hypogammaglobulinemia of infancy.
Allergy and asthma proceedingsHypogammaglobulinemia in Children Receiving Targeted Immunotherapies for B Lineage Malignancies: Practical Guidance for Assessment and Management.
Pediatric blood & cancerBeyond 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[Immunosubstitution of patients with refractory multiple myeloma treated with teclistamab, a bispecific antibody].
Annales pharmaceutiques francaisesLong-term effects of COVID-19 in patients with primary immunodeficiency: An IPOPI worldwide survey.
The Journal of allergy and clinical immunology[ADA2, an Adenosine Deaminase Isozyme Acting as a Regulator of Autoinflammation].
Yakugaku zasshi : Journal of the Pharmaceutical Society of JapanReal-world effectiveness of immunoglobulin replacement for hypogammaglobulinemia and infections in multiple myeloma.
Blood advancesNovel heterozygous SPI1c.538C>T p.(Leu180Phe) variant causes PU.1 haploinsufficiency leading to agammaglobulinemia.
Clinical immunology (Orlando, Fla.)Immune Thrombocytopenia in an Adult With X-linked Agammaglobulinemia: A Case Report.
EJHaemClinicopathologic Features and the Spectrum of Myelokathexis in Warts, Hypogammaglobulinemia, Infections, Myelokathexis Syndrome.
Laboratory investigation; a journal of technical methods and pathologyHeterozygous deletion of 10q24.31-q24.33- a new syndrome associated with multiple congenital anomalies: case report and literature review.
Neurological research and practiceCell-penetrating peptide-conjugated, splice-switching oligonucleotides mitigate the phenotype in BTK/Tec double deficient X-linked agammaglobulinemia model.
RSC chemical biologyMulti-Year Registry Study of Elapegademase Treatment in Patients With Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Requiring Enzyme Replacement Therapy.
Journal of clinical immunologyA high-throughput TREC- and KREC-based newborn screening for severe inborn errors of immunity.
Pediatrics international : official journal of the Japan Pediatric SocietyMimics and challenging presentations of DADA2.
Clinical and experimental immunologyEnhanced 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[A case of invasive Aspergillosis secondary to Mycoplasma pneumoniae pneumonia in a X-linked agammaglobulinemia patient].
Zhonghua er ke za zhi = Chinese journal of pediatricsAsthma Phenotype Can Be Influenced by Recurrent Respiratory Infections in Patients with Primary Antibody Deficiency: The Impact of Ig Therapy.
Respiration; international review of thoracic diseasesGene therapy for inborn errors of immunity: Current clinical progress.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & ImmunologyClinical opinions and case studies on understanding and managing hypogammaglobulinaemia in multiple sclerosis: United Kingdom perspective.
Multiple sclerosis and related disorders[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 hematologyNeonatal Screening for Spinal Muscular Atrophy and Severe T- and B-Cell Lymphopenias in Andalusia: A Prospective Study.
International journal of neonatal screeningGetting to know adenosine deaminase 2 deficiency inside and out.
The Journal of allergy and clinical immunologyA Rapid Point-of-Care Ultrasound Diagnosis and Treatment of Tamponade in a Patient With Rare and Lethal Purulent Pericarditis: A Case Report.
CureusDeficiency of adenosine deaminase 2 skews adaptive immune repertoires toward specific sets of T- and B-cell receptors.
The Journal of allergy and clinical immunologyImpact of rituximab on IgG and IgM levels in patients with autoimmune bullous diseases: a cohort study.
Archives of dermatological researchEchovirus serotype 11 induced sepsis in a young female patient with multiple sclerosis treated with anti-CD20 monoclonal antibody ocrelizumab.
InfectionInfectious outcomes of a standardized subcutaneous immunoglobulin dose reduction strategy in primary immune deficiencies amid global shortage.
Frontiers in immunologyPseudomonas aeruginosa sepsis with sacroiliitis in X-linked agammaglobulinaemia.
BMJ case reportsThe dilemma of X-linked agammaglobulinemia carriers.
The journal of allergy and clinical immunology. GlobalOne hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them.
BloodAdvancing 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 screeningNutritional status in pediatric patients with predominant antibody deficiency.
Biomedica : revista del Instituto Nacional de SaludInfections, autoimmunity and immunodeficiencies are the leading etiologies of non-cystic fibrosis bronchiectasis in adults from the southwest of Colombia.
Biomedica : revista del Instituto Nacional de SaludFirst part. A 45-year-old man with severe pneumonia, disseminated cytomegalovirus infection, and agammaglobulinemia.
Biomedica : revista del Instituto Nacional de SaludUnderstanding secondary hypogammaglobulinemia and its implications for cancer prognosis in children: A retrospective cohort study.
Biomedica : revista del Instituto Nacional de SaludFunctional validation of a novel STAT3 'variant of unknown significance' identifies a new case of STAT3 GOF syndrome and reveals broad immune cell defects.
Clinical and experimental immunologyGut microbial dysbiosis, IgA, and Enterococcus in common variable immunodeficiency with immune dysregulation.
MicrobiomeMutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans.
The Journal of experimental medicineIsolated loss of vaccine immunity in the protein losings syndrome in a patient with a reverse one and a half ventricle palliation ("failing Fontan-like physiology").
Cardiology in the youngA Case of X-Linked Agammaglobulinemia and COVID-19 in a Japanese Infant.
Journal of Nippon Medical School = Nippon Ika Daigaku zasshiIf and When to Consider Prophylactic Immunoglobulin Replacement Therapy in Secondary Hypogammaglobulinemia.
The journal of allergy and clinical immunology. In practiceDiversity in the Clinical Course and Outcome of COVID-19 in Patients with Different Inborn Errors of Immunity can be Associated with the Type of Error.
Advanced biomedical researchSequelae of B-Cell Depleting Therapy: An Immunologist's Perspective.
BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapyA second look at secondary hypogammaglobulinemia.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & ImmunologyB-ALL in a 21-year-old male with X-linked agammaglobulinemia (XLA): a case report and review of B-cell malignancies in XLA.
Leukemia & lymphomaImmunodeficiencies in Foals.
The Veterinary clinics of North America. Equine practiceHypogammaglobulinemia at Diagnosis is Associated With Inferior Survival and Higher Risk of Infections in Diffuse Large B Cell Lymphoma.
Hematological oncologyHypogammaglobulinemia and severe infections in Multiple Sclerosis patients on anti-CD20 agents: A multicentre study.
Multiple sclerosis and related disordersHypogammaglobulinemia in a Child with Clericuzio-Type Poikiloderma with Neutropenia.
Pediatric allergy, immunology, and pulmonologyProlonged diagnostic journey in delayed-onset adenosine deaminase deficiency.
Clinical immunology (Orlando, Fla.)Persistent COVID-19 improved with immunoglobulin replacement therapy in Good's syndrome.
Respiratory investigationNephrotic Syndrome and Recurrent Infection.
Iranian journal of allergy, asthma, and immunologySingle Mutation Different Clinical Findings: IGLL1 Defect.
Iranian journal of allergy, asthma, and immunologyBruton'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 immunologyOutcomes of X-Linked Agammaglobulinaemia Patients.
Journal of clinical immunologyPrevalence of monoclonal proteins in patients with isolated hypogammaglobulinemia on serum protein electrophoresis.
Scandinavian journal of clinical and laboratory investigationA novel mutation in FNIP1 associated with a syndromic immunodeficiency and cardiomyopathy.
ImmunogeneticsFrom agammaglobulinemia to neutropenia: 'The TCF-3 has different clinical presentations'.
Scandinavian journal of immunologyAssociation of CD19+-targeted chimeric antigen receptor (CAR) T-cell therapy with hypogammaglobulinemia, infection, and mortality.
The Journal of allergy and clinical immunologyComprehensive newborn screening for severe combined immunodeficiency, X-linked agammaglobulinemia, and spinal muscular atrophy: the Chinese experience.
World journal of pediatrics : WJPClinical approach for pulmonary alveolar proteinosis in children.
World journal of clinical casesDigenic Inheritance of Hereditary Spherocytosis Type III and X-linked Agammaglobulinemia: Coexistence of Two Distinct Recessive Disorders in a Male Child.
CureusPersistently Low IgG2 Levels in a Subset of Patients Following Hematopoietic Cell Transplantation.
Clinical transplantationAtypical Manifestation of X-linked Agammaglobulinemia - the Importance of Genetic Testing.
Acta medica (Hradec Kralove)Recovery from rituximab-associated persistent hypogammaglobulinaemia in children with nephrotic syndrome.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal AssociationDisseminated Aspergillosis in X-linked Agammaglobulinemia: Beyond the norm.
Journal of clinical immunologyRare primary vasculitis: update on multiple complex diseases and the new kids on the block.
Advances in rheumatology (London, England)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 journalCarbapenem resistant Campylobacter jejuni bacteremia in a Bruton's X-linked agammaglobulinemia patient.
European journal of clinical microbiology & infectious diseases : official publication of the European Society of Clinical MicrobiologyA single center experience on PI3K/AKT/MTOR signaling defects: Towards pathogenicity assessment for four novel defects.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyBiallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.
Journal of clinical immunologyPure Red Cell Aplasia in a Patient with Thymic Hyperplasia, Hypogammaglobulinemia and Adult T-cell Leukemia/Lymphoma.
Internal medicine (Tokyo, Japan)Early bone marrow alterations in patients with adenosine deaminase 2 deficiency across disease phenotypes and severities.
The Journal of allergy and clinical immunologyHypogammaglobulinemia and infection risk in myotonic dystrophy type 1.
Muscle & nerveMycoplasma pneumonia in a patient with X-linked agammaglobulinemia.
BMC infectious diseasesSuccessful Long-Term Enzyme Replacement Therapy in a Patient with Delayed-Onset ADA Deficiency.
Journal of clinical immunologyClinical spectrum of and outcomes for Indian children with deficiency of adenosine deaminase 2 (DADA2): a multicentric study.
Rheumatology (Oxford, England)Secondary hypogammaglobulinemia: diagnosis and management of a pediatric condition of clinical importance.
Current opinion in pediatricsExpanding the Clinical Phenotype with CD79A Mutation and Refractory Helicobacter Bilis Infection.
Journal of clinical immunologyEvolving spectrum of adenosine deaminase (ADA) deficiency: Assessing genotype pathogenicity according to expressed ADA activity of 46 variants.
The Journal of allergy and clinical immunologyGood syndrome combined with multiple microbial pulmonary infections: case report and review of the literature.
Immunologic researchProgressive Multifocal Leukoencephalopathy in Myasthenia Gravis With Selective Hypogammaglobulinemia.
Journal of clinical neuromuscular diseaseHypogammaglobulinemia and Infection Events in Patients with Autoimmune Diseases Treated with Rituximab: 10 Years Real-Life Experience.
Journal of clinical immunologyVariants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia.
The Journal of allergy and clinical immunologyDeficiency of Adenosine Deaminase 2.
Turkish journal of haematology : official journal of Turkish Society of HaematologyCase report of renal manifestations in X-linked agammaglobulinemia.
Frontiers in immunologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Agamaglobulinemia.
É de uma associação que acompanha esta doença? Fale com a gente →
Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Agamaglobulinemia e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
Existe um documento oficial para "Imunodeficiência Primária Com Defeitos de Anticorpos". Ele pode não cobrir esta forma específica da doença — confira no texto do protocolo antes de contar com ele.
Ela pode ser congênita ou adquirida, decorrendo de problemas na produção de imunoglobulinas ou escassez de linfócitos B. Mutações em genes como *CD19*, *CD79B*, *ICOS*, *MS4A1* e *SPI1* estão documentadas na etiologia da doença.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
10 publicações do grafo RarasNet (PubMed) · 7 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
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.
Citar este verbete
Raras. (s.d.). Agamaglobulinemia. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/agamaglobulinemia
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Agamaglobulinemia
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Moléculas estudadas na doença
- fonte: OpenTargets
- Ensaios clínicos
- fonte: ClinicalTrials.gov
