Case series: x-linked agammaglobulinemia
DOI:
https://doi.org/10.52428/20756208.v19i46.1133Keywords:
agammaglobulinemia, inmunodeficiencia, linfocitos B , cromosoma XAbstract
Bruton's Agammagobulinemia, it is a primary immunodeficiency characterized by the decrease or absence of B lymphocytes and as a consequence a decrease in immunoglobulins in peripheral blood, which predisposes to recurrent infections. Three clinical cases of patients who were diagnosed at the Manuel Ascencio Villarroel Children's Hospital in Cochabamba with recurrent respiratory and gastrointestinal infections requiring hospitalization are presented. With this background, immunological and genetic tests were performed for diagnosis.
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Lozano J, Del Rio B, Sacre J, Ortega J. Primary immunodeficiencies. Allergy, asthma and clinical immunology in Pediatrics, Seg Edicion, 2019; pp. 373-385
Aghamohammadi, V. et al. Predominantly antibody deficiencies. Primary Immunodeficiency Diseases, 1st ed., pp. 97-130
https://doi.org/10.1007/978-3-540-78936-9_3 DOI: https://doi.org/10.1007/978-3-540-78936-9_3
J.A. Winkelstein, et al. X-linked agammaglobulinemia: Report on a United States registry of 201 patients. Medicine, 85 (2006), p. 193-202
https://doi.org/10.1097/01.md.0000229482.27398.ad DOI: https://doi.org/10.1097/01.md.0000229482.27398.ad
PMid:16862044
N. Basile, et al.. Clinical and molecular analysis of 49 patients with X-linked agammaglobulinemia from a single center in Argentina. J Clin Immunol, 29 (2009), p. 123-129
https://doi.org/10.1007/s10875-008-9227-y DOI: https://doi.org/10.1007/s10875-008-9227-y
PMid:18677443
D. Wattanasirichaigoon, et al. Four novel and three recurrent mutations of the BTK gene and pathogenic effects of putative splice mutations. J Hum Genet, 51 (2006), pp. 1006-1014
https://doi.org/10.1007/s10038-006-0052-y DOI: https://doi.org/10.1007/s10038-006-0052-y
PMid:16951917
V.D. Ramalho, et al. Mutations of Bruton's tyrosine kinase gene in Brazilian patients with X-linked agammaglobulinemia. Braz J Med Biol Res, 43 (2010), p. 910-913
https://doi.org/10.1590/S0100-879X2010007500079 DOI: https://doi.org/10.1590/S0100-879X2010007500079
PMid:20721470
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Copyright (c) 2024 Marcela Veronica Torrico Montaño, Dra, Dra
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