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X-Linked Agammaglobulinemia Presenting as Neutropenia: Case Report and an Overview of Literature
X-linked agammaglobulinemia (XLA) is an inherited immunodeficiency caused by mutations in the Bruton Tyrosine Kinase (BTK) gene. Marked neutropenia can be the initial abnormal laboratory finding in patients with XLA who are presenting with their first illness. The two cases presented herein support...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8273273/ https://www.ncbi.nlm.nih.gov/pubmed/34262886 http://dx.doi.org/10.3389/fped.2021.633692 |
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author | Lanlokun, Mosopefoluwa Borden, Amanda Nieves, Daime Walter, Jolan E. Albright, Deborah |
author_facet | Lanlokun, Mosopefoluwa Borden, Amanda Nieves, Daime Walter, Jolan E. Albright, Deborah |
author_sort | Lanlokun, Mosopefoluwa |
collection | PubMed |
description | X-linked agammaglobulinemia (XLA) is an inherited immunodeficiency caused by mutations in the Bruton Tyrosine Kinase (BTK) gene. Marked neutropenia can be the initial abnormal laboratory finding in patients with XLA who are presenting with their first illness. The two cases presented herein support early consideration of evaluation for primary humoral immune deficiency in previously healthy male patients under the age of 12 months who present with neutropenia in the setting of infection shortly after passively acquired maternal antibody has sufficiently waned. Initial consideration of XLA (or other humoral immune deficiencies) in this particular population of young male neutropenic patients may afford the opportunity to avoid bone marrow biopsy in otherwise stable cases with similar presentations. |
format | Online Article Text |
id | pubmed-8273273 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-82732732021-07-13 X-Linked Agammaglobulinemia Presenting as Neutropenia: Case Report and an Overview of Literature Lanlokun, Mosopefoluwa Borden, Amanda Nieves, Daime Walter, Jolan E. Albright, Deborah Front Pediatr Pediatrics X-linked agammaglobulinemia (XLA) is an inherited immunodeficiency caused by mutations in the Bruton Tyrosine Kinase (BTK) gene. Marked neutropenia can be the initial abnormal laboratory finding in patients with XLA who are presenting with their first illness. The two cases presented herein support early consideration of evaluation for primary humoral immune deficiency in previously healthy male patients under the age of 12 months who present with neutropenia in the setting of infection shortly after passively acquired maternal antibody has sufficiently waned. Initial consideration of XLA (or other humoral immune deficiencies) in this particular population of young male neutropenic patients may afford the opportunity to avoid bone marrow biopsy in otherwise stable cases with similar presentations. Frontiers Media S.A. 2021-06-28 /pmc/articles/PMC8273273/ /pubmed/34262886 http://dx.doi.org/10.3389/fped.2021.633692 Text en Copyright © 2021 Lanlokun, Borden, Nieves, Walter and Albright. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Pediatrics Lanlokun, Mosopefoluwa Borden, Amanda Nieves, Daime Walter, Jolan E. Albright, Deborah X-Linked Agammaglobulinemia Presenting as Neutropenia: Case Report and an Overview of Literature |
title | X-Linked Agammaglobulinemia Presenting as Neutropenia: Case Report and an Overview of Literature |
title_full | X-Linked Agammaglobulinemia Presenting as Neutropenia: Case Report and an Overview of Literature |
title_fullStr | X-Linked Agammaglobulinemia Presenting as Neutropenia: Case Report and an Overview of Literature |
title_full_unstemmed | X-Linked Agammaglobulinemia Presenting as Neutropenia: Case Report and an Overview of Literature |
title_short | X-Linked Agammaglobulinemia Presenting as Neutropenia: Case Report and an Overview of Literature |
title_sort | x-linked agammaglobulinemia presenting as neutropenia: case report and an overview of literature |
topic | Pediatrics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8273273/ https://www.ncbi.nlm.nih.gov/pubmed/34262886 http://dx.doi.org/10.3389/fped.2021.633692 |
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