Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India
Frontiers in Immunology, 2021 Background There is paucity of literature on XLA from developing countries. Herein we report the clinical and molecular profile and outcome in a multicenter cohort of patients with XLA from India.
A. Rawat +41 more
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Deletion within the Src homology domain 3 of Bruton's tyrosine kinase resulting in X-linked agammaglobulinemia (XLA). [PDF]
, 1994 The gene responsible for X-linked agammaglobulinemia (XLA) has been recently identified to code for a cytoplasmic tyrosine kinase (Bruton's agammaglobulinemia tyrosine kinase, BTK), required for normal B cell development. BTK, like many other cytoplasmic
Chen, SH +11 more
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Revista Peruana de Medicina Experimental y Salud Pública, 2019 Primary agammaglobulinemia result from specific alterations in B cells, which lead to low antibody production. Diagnostic suspicion is established with a history of repeated infections, low immunoglobulins, and absence of CD19+ B lymphocytes.
Edgar Matos-Benavides +4 more
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Late diagnosis of agammaglobulinemia in an 8-year-old boy
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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Severe B Cell Deficiency in Mice Lacking the Tec Kinase Family Members Tec and Btk [PDF]
, 2000 The cytoplasmic protein tyrosine kinase Tec has been proposed to have important functions in hematopoiesis and lymphocyte signal transduction. Here we show that Tec-deficient mice developed normally and had no major phenotypic alterations of the immune ...
Baltimore, David +7 more
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Journal of Clinical Immunology, 2021 Since the first clinical description in 1952, immunoglobulin replacement therapy remains the mainstay of treatment of patients with X-linked agammaglobulinemia (XLA). However, this therapy only replaces IgG isotype and does not compensate for the loss of
B. Shillitoe +8 more
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Subcutaneous IgG Replacement Therapy by Push in 32 Patients with Primary Immunodeficiency Diseases in Argentine [PDF]
, 2014 Introduction: Regular replacement with immunoglobulin infusions is the mainstay of treatment in the majority of primary immunodeficiencies. Several studies showed that Subcutaneous Immunoglobulin (SCIG) has similar efficacy to Intravenous Immunoglobulin (
Bezrodnik, Liliana +6 more
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IgM Augments Complement Bactericidal Activity with Serum from a Patient with a Novel CD79a Mutation [PDF]
, 2018 Antibody replacement therapy for patients with antibody deficiencies contains only IgG. As a result, concurrent IgM and IgA deficiency present in a large proportion of antibody deficient patients persists.
Burg, M. (Mirjam) van der +6 more
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Novel BTK mutation in X-linked agammaglobulinemia: Report of a 17-year-old male.
Allergologia et Immunopathologia, 2021 INTRODUCTION AND OBJECTIVES X-linked agammaglobulinemia (XLA), the first known primary immunodeficiency, is caused by rare mutations in Bruton's tyrosine kinase (BTK) gene.
Zoha Shaka +8 more
semanticscholar +1 more source
Pseudomonas aeruginosa septic shock associated with ecthyma gangrenosum in an infant with agammaglobulinemia [PDF]
Revista do Instituto de Medicina Tropical de São Paulo, 2002 Ecthyma gangrenosum (EG) due to Pseudomonas aeruginosa is a rare and invasive infection that can be associated with agammaglobulinemia. The cornerstone of the treatment is based on prompt recognition with appropriate antibiotic coverage and intravenous ...
João Fernando Lourenço de Almeida +3 more
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