Novel BTK Mutation in Patient with Late Diagnosis of X-Linked Agammaglobulinemia [PDF]
Case Reports in Immunology, 2023 X-linked agammaglobulinemia (XLA) is a genetic disorder with mutation in Bruton’s tyrosine kinase (BTK). Defects in B cell development and immunoglobulin production lead to recurrent infections following loss of maternal IgG at 6 months of age. A 55-year-
Amanpreet Kalkat +2 more
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Arthritis and X-linked agammaglobulinemia. [PDF]
Acta reumatologica portuguesa, 2008 Primary immunodeficiencies are defined as genetically determined functional and/or quantitative abnormalities in one or more of the components of the immune system. Immunodeficiency and arthritis can be related, although the mechanisms are not always clear.
Machado, P +5 more
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Late diagnosis of agammaglobulinemia in an 8-year-old boy [PDF]
Pediatria i Medycyna Rodzinna, 2016 Chromosome X-linked Bruton agammaglobulinemia is classified as a primary immunodeficiency disorder. It is a genetic condition associated with a mutation in the BTK gene encoding tyrosine kinase.
Małgorzata Sopińska +4 more
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Clinical features and mutational analysis of X-linked agammaglobulinemia patients in Malaysia [PDF]
Frontiers in Immunology, 2023 BackgroundBruton’s tyrosine kinase (BTK) is a cytoplasmic protein involved in the B cell development. X-linked agammaglobulinemia (XLA) is caused by mutation in the BTK gene, which results in very low or absent B cells.
Chai Teng Chear +17 more
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Hematopoietic stem cell gene therapy for the treatment of X-linked agammaglobulinemia [PDF]
Molecular Therapy: Methods & Clinical DevelopmentX-linked agammaglobulinemia (XLA) is a rare inborn error of immunity caused by loss-of-function mutations in the gene encoding Bruton’s tyrosine kinase (BTK).
Christopher R. Luthers +8 more
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Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling [PDF]
Frontiers in Immunology, 2020 X-linked agammaglobulinemia (XLA) is a clinically and genetically well-defined immunodeficiency and the most common form of agammaglobulinemia. It is characterized by susceptibility to recurrent bacterial infections, profound hypogammaglobulinemia, and ...
Jacques G. Rivière +17 more
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X-linked agammaglobulinemia: clinical and immunologic evaluation of six patients [PDF]
The Turkish Journal of Pediatrics, 1990 The clinical and immunologic features of six patients with X-linked agammaglobulinemia (XLA) are presented. The most common presenting manifestations were respiratory and gastrointestinal tract infections.
F Ersoy, O Sanal, I Tezcan, A I Berkel
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Citation: 'X-linked agammaglobulinemia' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.13787 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
Lackey AE, Ahmad F.
europepmc +2 more sources
PROTECTIVE LEVELS OF VARICELLA-ZOSTER ANTIBODY DID NOT EFFECTIVELY PREVENT CHICKENPOX IN AN X-LINKED AGAMMAGLOBULINEMIA PATIENT [PDF]
Revista do Instituto de Medicina Tropical de São Paulo, 2015 SUMMARY We describe the case of an eight-year-old boy with X-linked agammaglobulinemia who developed mild varicella despite regular intravenous immunoglobulin (IVIG) therapy.
Fernanda Aimée NOBRE +3 more
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IgA nephropathy in a child with X-linked agammaglobulinemia: a case report [PDF]
BMC PediatricsBackground X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease caused by mutations in the Bruton tyrosine kinase (BTK) gene. Individuals diagnosed with XLA are at an increased risk of developing autoimmune diseases.
Yuanjin Song +4 more
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