Works matching Agammaglobulinemia and genetics
Results: 32
X-linked agammaglobulinemia (XLA): A genetic tyrosine kinase (Btk) disease.
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- BioEssays, 1996, v. 18, n. 10, p. 825, doi. 10.1002/bies.950181009
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- Article
Clinical and Genetic Study of X-linked Agammaglobulinemia Patients (The Benefit of Early Diagnosis).
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- Iranian Journal of Allergy, Asthma & Immunology, 2020, v. 19, n. 3, p. 305
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- Article
5例儿童X连锁无丙种球蛋白血症报告及基因特征分析.
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- Journal of Modern Laboratory Medicine, 2018, v. 33, n. 3, p. 65, doi. 10.3969/j.issn.1671-7414.2018.03.017
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- Article
Clinical, immunological and genetic characterization of patients with X‐linked agammaglobulinemia in Costa Rica.
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- Scandinavian Journal of Immunology, 2023, v. 97, n. 1, p. 1, doi. 10.1111/sji.13237
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- Article
Clinical and genetic features of the patients with X‐Linked agammaglobulinemia from Turkey: Single‐centre experience.
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- Scandinavian Journal of Immunology, 2018, v. 87, n. 3, p. 1, doi. 10.1111/sji.12647
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- Article
Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling.
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- Frontiers in Immunology, 2020, p. 1, doi. 10.3389/fimmu.2020.00046
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- Article
Genetic heterogeneity in X-linked agammaglobulinemia complicates carrier detection and prenatal diagnosis.
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- Clinical Genetics, 1987, v. 31, n. 2, p. 91, doi. 10.1111/j.1399-0004.1987.tb02775.x
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- Article
Genetic Approaches for Definitive Diagnosis of Agammaglobulinemia in Consanguineous Families.
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- Journal of Clinical Immunology, 2020, v. 40, n. 1, p. 96, doi. 10.1007/s10875-019-00706-4
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- Article
Atypical Manifestation of X-linked Agammaglobulinemia – the Importance of Genetic Testing.
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- Acta Medica, 2024, v. 67, n. 2, p. 60, doi. 10.14712/18059694.2024.21
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- Article
Clinical and genetic findings in two siblings with X-Linked agammaglobulinemia and bronchiolitis obliterans: a case report.
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- 2022
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- journal article
Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India.
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- Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.612323
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- Article
Follow-up of immune response in patients with common variable immunodeficiency following SARS-CoV-2 vaccination.
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- Clinical & Experimental Immunology, 2024, v. 217, n. 3, p. 253, doi. 10.1093/cei/uxae039
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- Article
Progressive B cell depletion in human MALT1 deficiency.
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- Clinical & Experimental Immunology, 2021, v. 206, n. 3, p. 237, doi. 10.1111/cei.13662
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- Article
Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand.
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- Allergy, Asthma & Clinical Immunology, 2016, v. 12, p. 1, doi. 10.1186/s13223-016-0169-2
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- Article
Constitutive membrane association potentiates activation of Bruton tyrosine kinase.
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- Oncogene, 1997, v. 15, n. 12, p. 1375, doi. 10.1038/sj.onc.1201308
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- Article
A novel mutation in FNIP1 associated with a syndromic immunodeficiency and cardiomyopathy.
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- Immunogenetics, 2025, v. 77, n. 1, p. 1, doi. 10.1007/s00251-024-01359-3
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- Article
B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study.
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- Immunogenetics, 2024, v. 76, n. 3, p. 189, doi. 10.1007/s00251-024-01342-y
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- Article
Novel BTK Mutation in Patient with Late Diagnosis of X-Linked Agammaglobulinemia.
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- 2023
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- Case Study
A Novel BLNK Gene Mutation in a Four-Year-Old Child Who Presented with Late Onset of Severe Infections and High IgM Levels and Diagnosed and Followed as X-Linked Agammaglobulinemia for Two Years.
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- 2022
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- Case Study
Immunodeficiency diseases.
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- JAMA: Journal of the American Medical Association, 1992, v. 268, n. 20, p. 2797, doi. 10.1001/jama.1992.03490200049006
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Successful umbilical cord blood stem cell transplantation in a patient with Rothmund–Thomson syndrome and combined immunodeficiency.
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- Clinical Genetics, 2006, v. 69, n. 4, p. 337, doi. 10.1111/j.1399-0004.2006.00592.x
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- Article
X-linked agammaglobulinemia in two siblings with a novel mutation in the BTK gene who presented with polyarticular juvenile idiopathic arthritis.
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- Scandinavian Journal of Rheumatology, 2015, v. 44, n. 2, p. 168, doi. 10.3109/03009742.2014.995699
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- Article
INMUNODEFICIENCIAS HUMORALES EN PACIENTES ADULTOS. CUATRO DÉCADAS DE SEGUIMIENTO.
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- Medicina (Buenos Aires), 2022, v. 82, n. 3, p. 361
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- Article
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.
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- Journal of Clinical Immunology, 2024, v. 44, n. 4, p. 1, doi. 10.1007/s10875-024-01691-z
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- Article
Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.
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- Journal of Clinical Immunology, 2020, v. 40, n. 7, p. 987, doi. 10.1007/s10875-020-00794-7
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- Article
Single Mutation Different Clinical Findings: IGLL1 Defect.
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- 2024
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- Case Study
Disseminated Intravascular Coagulation Associated with Large Deletion of Immunoglobulin Heavy Chain.
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- 2021
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- journal article
A contiguous deletion syndrome of X-linked agammaglobulinemia and sensorineural deafness.
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- Pediatric Allergy & Immunology, 2001, v. 12, n. 2, p. 107, doi. 10.1034/j.1399-3038.2001.0129999107.x
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- Article
Presentation of a case of Bruton type primary agammaglobulinemia in Guinea.
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- Pan African Medical Journal, 2020, v. 36, p. 1, doi. 10.11604/pamj.2020.36.385.24771
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- Article
Case Report: A Case of X-Linked Agammaglobulinemia With High Serum IgE Levels and Allergic Rhinitis.
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- Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.582376
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- Article
Distinct Clinical Features and Novel Mutations in Taiwanese Patients With X-Linked Agammaglobulinemia.
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- Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.02001
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- Article
Case Report: Invasive Non Type b Haemophilus influenzae in Immunocompromised Children.
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- American Journal of Case Reports, 2020, v. 21, p. 1, doi. 10.12659/AJCR.920853
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- Article