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.
Downloads
References
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
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
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
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
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
PMid:20721470
Published
How to Cite
Issue
Section
License
Copyright (c) 2024 Marcela Veronica Torrico Montaño, Dra, Dra
This work is licensed under a Creative Commons Attribution 4.0 International License.
Authors who publish with this journal agree to the following terms:
- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License 4.0 that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
- Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.
