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.
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.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 33 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 67 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.
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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. Padrão de herança: X-linked recessive.
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
CytoplasmCell membraneNucleusMembrane raft
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.
Medicamentos aprovados (FDA)
1 medicamento encontrado nos registros da FDA americana.
Variantes genéticas (ClinVar)
577 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 736 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
14 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 ligada ao X
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
15 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
Involvement of Btk in Cardiovascular Disease and Its Therapeutic Targeting.
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.
T-Cell Receptor Excision Circle/Kappa-Deleting Recombination Excision Circle-Based Newborn Screening Program for Severe Combined Immunodeficiency in Kumamoto, Japan.
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.
A patient with WHIM syndrome presenting relatively low TREC, KREC, and housekeeping gene levels by newborn screening -a case report and the literature review.
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.
Novel indications for hematopoietic stem cell transplantation in inborn errors of immunity.
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.
Bilateral idiopathic peripapillary choroidal neovascularization in a child with bruton disease: a case report.
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
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.
A patient with WHIM syndrome presenting relatively low TREC, KREC, and housekeeping gene levels by newborn screening -a case report and the literature review().
Novel indications for hematopoietic stem cell transplantation in inborn errors of immunity.
📚 EuropePMC530 artigos no totalmostrando 197
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 medicineNovel indications for hematopoietic stem cell transplantation in inborn errors of immunity.
Expert review of clinical immunologyBilateral idiopathic peripapillary choroidal neovascularization in a child with bruton disease: a case report.
BMC ophthalmologyPre- 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 immunologyInvolvement 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 medicinePulmonary 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.)Bruton'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 immunologyA 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)Toll-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 healthClinical 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 ImmunologyEnterohepatic Non-H. pylori Helicobacter Infection in a Patient With X-Linked Agammaglobulinemia.
Pediatric dermatologyBronchiectasis, 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 immunologyTACI and BTK gene analysis in predominantly antibody deficiencies among the primary immunodeficiency disorder patients in Bangladesh.
Frontiers in medicineBruton tyrosine kinase modulates systemic immune activation to bacterial translocation in primary antibody deficiencies.
The Journal of allergy and clinical immunologySerum 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 immunologyHematopoietic stem cell gene therapy for the treatment of X-linked agammaglobulinemia.
Molecular therapy. Methods & clinical developmentFatal 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.)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 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 immunologySpectrum of BTK gene mutations in Vietnamese patients with X-linked agammaglobulinemia.
Molecular biology reportsCase Report: Preserved umbilical cords underscore family histories of inborn errors of immunity.
Frontiers in immunologyX-linked Agammaglobulinemia First Diagnosed in Adulthood with Recurrent Pneumonia and Multiple Warty Skin Nodules.
Internal medicine (Tokyo, Japan)Clinical and Molecular Characteristics of X-Linked Agammaglobulinemia Patients 55 Years or Older.
The journal of allergy and clinical immunology. In practiceIdentification and characterization of a novel human adenovirus type HAdV-D116.
Frontiers in microbiologyBeyond 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 ImmunologyImmune Thrombocytopenia in an Adult With X-linked Agammaglobulinemia: A Case Report.
EJHaemCell-penetrating peptide-conjugated, splice-switching oligonucleotides mitigate the phenotype in BTK/Tec double deficient X-linked agammaglobulinemia model.
RSC chemical biologyEnhanced 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 pediatricsGene therapy for inborn errors of immunity: Current clinical progress.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology[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 screeningA Rapid Point-of-Care Ultrasound Diagnosis and Treatment of Tamponade in a Patient With Rare and Lethal Purulent Pericarditis: A Case Report.
CureusThe 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 screeningGut microbial dysbiosis, IgA, and Enterococcus in common variable immunodeficiency with immune dysregulation.
MicrobiomeA Case of X-Linked Agammaglobulinemia and COVID-19 in a Japanese Infant.
Journal of Nippon Medical School = Nippon Ika Daigaku zasshiB-ALL in a 21-year-old male with X-linked agammaglobulinemia (XLA): a case report and review of B-cell malignancies in XLA.
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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 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.
CureusAtypical Manifestation of X-linked Agammaglobulinemia - the Importance of Genetic Testing.
Acta medica (Hradec Kralove)Disseminated Aspergillosis in X-linked Agammaglobulinemia: Beyond the norm.
Journal of clinical immunologyAbnormal 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 MicrobiologyMycoplasma pneumonia in a patient with X-linked agammaglobulinemia.
BMC infectious diseasesVariants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia.
The Journal of allergy and clinical immunologyCase report of renal manifestations in X-linked agammaglobulinemia.
Frontiers in immunologyDysregulation of Toll-Like Receptor Signaling-Associated Gene Expression in X-Linked Agammaglobulinemia: Implications for Correlations Genotype-Phenotype and Disease Expression.
Journal of innate immunityClinical feature of omicron infection in children with inborn errors of immunity in China.
Frontiers in immunologyDiscordant Phenotypes of Nephritis in Patients with X-linked Agammaglobulinemia.
Journal of clinical immunologyE41K mutation activates Bruton's tyrosine kinase by stabilizing an inositol hexakisphosphate-dependent invisible dimer.
The Journal of biological chemistrySelective Btk inhibition by PRN1008/PRN473 blocks human CLEC-2, and PRN473 reduces venous thrombosis formation in mice.
Blood advancesObturator internus muscle abscess in a case of X-linked agammaglobulinemia.
Pediatrics international : official journal of the Japan Pediatric SocietySevere enterovirus infections in patients with immune-mediated inflammatory diseases receiving anti-CD20 monoclonal antibodies.
RMD openYoung Patient with X-linked Agammaglobulinemia Presents with Advanced Gastric Cancer and Extensive Atrophic Gastritis.
Internal medicine (Tokyo, Japan)Viral infections and inborn errors of immunity.
Current opinion in infectious diseasesMembranoproliferative 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 ArabiaIntravenous immunoglobulins for the treatment of prolonged COVID-19 in immunocompromised patients: a brief report.
Frontiers in immunologyImmunogenicity 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 immunologyBTK drives neutrophil activation for sterilizing antifungal immunity.
The Journal of clinical investigationFollow-up of immune response in patients with common variable immunodeficiency following SARS-CoV-2 vaccination.
Clinical and experimental immunologyIgA nephropathy in a child with X-linked agammaglobulinemia: a case report.
BMC pediatricsB-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study.
ImmunogeneticsSevere 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 immunologyClinical Utility of Flow-Cytometry for Diagnosis and Genotype Phenotype Correlation in a Cohort of X-linked Agammaglobulinemia Patients.
Indian journal of pediatricsA deep intronic BTK variant underlies X-linked agammaglobulinemia.
Journal of clinical immunologyPulmonary alveolar proteinosis induced by X-linked agammaglobulinemia: A case report.
World journal of clinical casesMultiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years.
GenesHematopoietic stem cell gene editing rescues B-cell development in X-linked agammaglobulinemia.
The Journal of allergy and clinical immunologySafety and efficacy of biologic immunosuppressive treatment in juvenile idiopathic arthritis associated with inborn errors of immunity.
Frontiers in pediatricsHeterozygous TCF3-related disease presenting as X-linked agammaglobulinemia mimicry in a male toddler with B-cell aplasia, agammaglobulinemia, and severe neutropenia.
Pediatric blood & cancerImmunoglobulin replacement therapies in inborn errors of immunity: a review.
Frontiers in pediatricsNon-Helicobacter pylori Helicobacter Species as a Cause of Refractory Chronic Cellulitis in X-Linked Agammaglobulinemia.
Journal of clinical immunologyGene regulation in inborn errors of immunity: Implications for gene therapy design and efficacy.
Immunological reviewsPulmonary Computed Tomography Screening Frequency in Primary Antibody Deficiency.
The journal of allergy and clinical immunology. In practiceScreening and Characterization of Allosteric Small Molecules Targeting Bruton's Tyrosine Kinase.
BiochemistryCombined Treatment of Progressive Encephalitis in an X-linked Agammaglobulinemia Patient.
Iranian journal of allergy, asthma, and immunologyNovel BTK Mutation in Patient with Late Diagnosis of X-Linked Agammaglobulinemia.
Case reports in immunologyEmpiric anti-Giardia therapy in non-diarrheal protein-losing enteropathy: A focus on children with monogenic humoral immunodeficiency.
Qatar medical journalInvestigation of a synonymous mutation in Btk in a patient with agammaglobulinemia: A case report.
Immunity, inflammation and diseaseCellular immune response to SARS-CoV-2 in patients with primary antibody deficiencies.
Frontiers in immunologyClinical features and mutational analysis of X-linked agammaglobulinemia patients in Malaysia.
Frontiers in immunologyChronic 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 allergyGenetic screening in a Brazilian cohort with inborn errors of immunity.
BMC genomic dataBTKbase, Bruton Tyrosine Kinase Variant Database in X-Linked Agammaglobulinemia: Looking Back and Ahead.
Human mutationInborn Errors of Immunity-the Sri Lankan Experience 2010-2022.
Journal of clinical immunologyAn International Survey of Allogeneic Hematopoietic Cell Transplantation for X-Linked Agammaglobulinemia.
Journal of clinical immunologyKawasaki Disease and Inborn Errors of Immunity: Exploring the Link and Implications.
Diagnostics (Basel, Switzerland)Exposure to Therapeutic BTK Inhibitors Induces Phenocopying of Btk29A Mutants in the Fruit Fly Drosophila melanogaster.
Frontiers in bioscience (Landmark edition)X-linked Agammaglobulinemia Diagnosed Following Bezold's Abscess: A Case Report.
The Tokai journal of experimental and clinical medicineHemizygous BTK Gene Variant Causing X-Linked Agammaglobulinemia in Two Siblings.
Journal of clinical immunologyImmune 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 immunologyA Registry Study of 240 Patients with X-Linked Agammaglobulinemia Living in the USA.
Journal of clinical immunologyCOVID-19 Pneumonia with Migratory Pattern in Agammaglobulinemic Patients: A Report of Two Cases and Review of Literature.
Tomography (Ann Arbor, Mich.)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 immunologyMonoclonal Antibodies for COVID-19 in X-linked Agammaglobulinemia: a Case Series.
Journal of clinical immunologyChronic 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 AmericaSARS-CoV-2 spike antibody concentration in gamma globulin products from high-prevalence COVID-19 countries are transmitted to X-linked agammaglobulinemia patients.
Frontiers in immunologySARS-CoV-2 Antibodies in Commercial Immunoglobulin Products Show Markedly Reduced Cross-reactivities Against Omicron Variants.
Journal of clinical immunologyCo-Occurring X-Linked Agammaglobulinemia and X-Linked Chronic Granulomatous Disease: Two Isolated Pathogenic Variants in One Patient.
BiomedicinesSARS-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 ImmunologyOutcomes among racial and ethnic minority groups with X-linked agammaglobulinemia from the USIDNET registry.
The journal of allergy and clinical immunology. In practiceHaematopoietic Stem Cell Transplantation (HSCT) for Primary Immune System Disorders in Children: A Single Centre Experience.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPThe Importance of Endoscopy with Biopsy: Real-World Evidence of Gastrointestinal Involvement in Primary Immunodeficiency in Two Main Northern Italian Centres.
BiomedicinesX-Linked Agammaglobulinemia Leading to Chronic Obstructive Lung Disease.
CureusRelapsing Helicobacter cinaedi Cellulitis without Bacteremia in a Patient with X-linked Agammaglobulinemia after 1 Year of Antibiotic Prophylaxis.
SkinmedA case of rare splice-site Bruton's tyrosine kinase mutation with atypical X-linked agammaglobulinemia.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & ImmunologyCase report: Evolution of pulmonary manifestations and virological markers in critical COVID-19 infection in Bruton's agammaglobulinemia.
Frontiers in immunologySARS-COV-2 infections in inborn errors of immunity: A single center study.
Frontiers in immunologyPharmacokinetics of convalescent plasma therapy in a COVID-19 patient with X-linked Agammaglobulinemia.
Clinical immunology communicationsComparison of pulmonary lesions using lung ultrasound and high-resolution computed tomography in adult patients with primary humoral immunodeficiencies.
Frontiers in immunologyHelicobacter 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)Cytomegalovirus Pneumonia in a Patient with X-Linked Agammaglobulinemia: A Case Report.
Medicina (Kaunas, Lithuania)Angiosarcoma in Long-Standing Nodular Regenerative Hyperplasia.
ACG case reports journalCOVID-19 in unvaccinated patients with inborn errors of immunity-polish experience.
Frontiers in immunologyPhenotype of BTK-lacking myeloid cells during prolonged COVID-19 and upon convalescent plasma.
European journal of haematologyImmunogenicity and Safety of the Spikevax® (Moderna) mRNA SARS-CoV-2 Vaccine in Patients with Primary Humoral Immunodeficiency.
International archives of allergy and immunologyReactogenicity and immunogenicity of the second COVID-19 vaccination in patients with inborn errors of immunity or mannan-binding lectin deficiency.
Frontiers in immunologyNewborn 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 immunologyMeningoencephalitis in primary antibody deficiency: Our experience from northwest India.
Journal of neuroimmunologyCOVID-19-related health outcomes in people with primary immunodeficiency: A systematic review.
Clinical immunology (Orlando, Fla.)Successful treatment of atopic dermatitis with dupilumab in the setting of X-linked agammaglobulinemia.
The journal of allergy and clinical immunology. In practiceImmunodeficiency syndromes differentially impact the functional profile of SARS-CoV-2-specific T cells elicited by mRNA vaccination.
ImmunityTargeted 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 immunologyNodular Skin Lesions in a Patient With X-Linked Agammaglobulinemia.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of AmericaImmunologic Control of Disseminated Aichi Virus Infection in X-Linked Agammaglobulinemia by Transplantation of TcRαβ-Depleted Haploidentical Hematopoietic Cells.
Journal of clinical immunologySuccessful use of dupilumab to treat eczema in a child with X-linked agammaglobulinemia.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & ImmunologyUtility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.
Scientific reportsA 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[Antibody deficiencies in adults. Forty years of follow up].
MedicinaNeutralizing SARS-CoV-2 Antibodies in Commercial Immunoglobulin Products Give Patients with X-Linked Agammaglobulinemia Limited Passive Immunity to the Omicron Variant.
Journal of clinical immunologyCampylobacter jejuni Pericarditis: A Case Report.
Acta medica portuguesaEcthyma gangrenosum as a presenting feature of X-linked agammaglobulinemia: A case study.
Pediatrics and neonatologyImmunogenicity of the mRNA-1273 COVID-19 vaccine in adult patients with inborn errors of immunity.
The Journal of allergy and clinical immunologySpecific T-cell responses for guiding treatment with convalescent plasma in severe COVID-19 and humoral immunodeficiency: a case report.
BMC infectious diseasesKeratoconjunctivitis as a Single Entity in X-linked Agammaglobulinemia?
Ocular immunology and inflammationImproved HUMARA for the Detection of X-Linked Agammaglobulinemia Carriers.
Genetic testing and molecular biomarkersClinical and genetic findings in two siblings with X-Linked agammaglobulinemia and bronchiolitis obliterans: a case report.
BMC pediatricsSARS-CoV-2-Specific and Functional Cytotoxic CD8 Cells in Primary Antibody Deficiency: Natural Infection and Response to Vaccine.
Journal of clinical immunologyResponses to SARS-CoV-2 Vaccines of Patients with Common Variable Immune Deficiencies and X-linked Agammaglobulinemia.
Journal of clinical immunologyChronic immune thrombocytopenia in a child with X-linked agammaglobulinemia-an uncommon phenotype.
PlateletsX-Linked Agammaglobulinemia: Infection Frequency and Infection-Related Mortality in the USIDNET Registry.
Journal of clinical immunologyHealth-Related Quality of Life in 91 Patients with X-Linked Agammaglobulinemia.
Journal of clinical immunologyAutism in a Child With X-linked Agammaglobulinemia.
CureusIdentification of four novel mutations in BTK from six Chinese families with X-linked agammaglobulinemia.
Clinica chimica acta; international journal of clinical chemistryDo reduced numbers of plasmacytoid dendritic cells contribute to the aggressive clinical course of COVID-19 in chronic lymphocytic leukaemia?
Scandinavian journal of immunologyThe inhibitory coreceptor CD22 restores B cell signaling by developmentally regulating Cd45-/- immunodeficient B cells.
Science signalingInfections With Enterohepatic Non-H. pylori Helicobacter Species in X-Linked Agammaglobulinemia: Clinical Cases and Review of the Literature.
Frontiers in cellular and infection microbiologyRetrospective study of 98 patients with X-linked agammaglobulinemia complicated with arthritis.
Clinical rheumatologyRheumatologic diseases in patients with inborn errors of immunity in the USIDNET registry.
Clinical rheumatologyClinical 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 MalaysiaClinical, immunological and genomic characteristics of children with X-linked agammaglobulinemia from Kerala, South India.
Human immunologyA comparison of DNA repair pathways to achieve a site-specific gene modification of the Bruton's tyrosine kinase gene.
Molecular therapy. Nucleic acidsX-Linked Agammaglobulinemia with Kawasaki Disease.
Indian journal of pediatricsB cell repertoire in patients with a novel BTK mutation: expanding the spectrum of atypical X-linked agammaglobulinemia.
Immunologic researchPulmonary Radiological Manifestations of Humoral and Combined Immunodeficiencies in a Tertiary Pediatric Center.
Iranian journal of allergy, asthma, and immunologyBruton's Tyrosine Kinase Inhibitors Impair FcγRIIA-Driven Platelet Responses to Bacteria in Chronic Lymphocytic Leukemia.
Frontiers in immunologyAn 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 DiseasesTreatment of chronic or relapsing COVID-19 in immunodeficiency.
The Journal of allergy and clinical immunology[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 geneticsAutoimmunity in Primary Immunodeficiency Disorders: An Updated Review on Pathogenic and Clinical Implications.
Journal of clinical medicineSARS-CoV-2 Vaccine Induced Atypical Immune Responses in Antibody Defects: Everybody Does their Best.
Journal of clinical immunologyCirculating bioactive bacterial DNA is associated with immune activation and complications in common variable immunodeficiency.
JCI insightSARS-CoV-2 Infection in an Adolescent With X-linked Agammaglobulinemia.
The Pediatric infectious disease journalCOVID-19 and X-linked agammaglobulinemia (XLA) - insights from a monogenic antibody deficiency.
Current opinion in allergy and clinical immunologyStreptococcal pneumonia meningitis as an initial presentation of X-linked agammaglobulinemia: A case report and discussion.
Journal of the American College of Emergency Physicians openNutritional status of children with primary immunodeficiency: A single center experience.
Pediatrics international : official journal of the Japan Pediatric SocietyPeripheral B Cell Deficiency and Predisposition to Viral Infections: The Paradigm of Immune Deficiencies.
Frontiers in immunologyX-Linked Agammaglobulinemia and COVID-19: Two Case Reports and Review of Literature.
Pediatric allergy, immunology, and pulmonologyNaïve Regulatory T Cell Subset Is Altered in X-Linked Agammaglobulinemia.
Frontiers in immunologyBTK inhibitors for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2): A systematic review.
Clinical immunology (Orlando, Fla.)Longitudinal study of a SARS-CoV-2 infection in an immunocompromised patient with X-linked agammaglobulinemia.
The Journal of infectionOne-year intravenous immunoglobulin replacement therapy: efficacy in reducing hospital admissions in pediatric patients with Inborn Errors of Immunity.
Jornal de pediatriaAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Agamaglobulinemia ligada ao X.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Agamaglobulinemia ligada ao X
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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.
- Involvement of Btk in Cardiovascular Disease and Its Therapeutic Targeting.
- T-Cell Receptor Excision Circle/Kappa-Deleting Recombination Excision Circle-Based Newborn Screening Program for Severe Combined Immunodeficiency in Kumamoto, Japan.
- A patient with WHIM syndrome presenting relatively low TREC, KREC, and housekeeping gene levels by newborn screening -a case report and the literature review.
- Novel indications for hematopoietic stem cell transplantation in inborn errors of immunity.
- Bilateral idiopathic peripapillary choroidal neovascularization in a child with bruton disease: a case report.
- 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.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:47(Orphanet)
- OMIM OMIM:300755(OMIM)
- MONDO:0010421(MONDO)
- GARD:1033(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- 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