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Streptococcal pneumonia meningitis as an initial presentation of X‐linked agammaglobulinemia: A case report and discussion

X‐linked agammaglobulinemia (XLA) is a primary immunodeficiency caused by mutations in the gene for Bruton's tyrosine kinase (Btk), with affected males most commonly presenting with recurrent bacterial infections during the first few years of life. Here we present a 17‐month‐old male with a chi...

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Autores principales: Kadden, Daniel, Fowler, Grace, Engel, Elissa, Logan, Casey, Marathe, Kalyani, Gosdin, Craig
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8448482/
https://www.ncbi.nlm.nih.gov/pubmed/34568871
http://dx.doi.org/10.1002/emp2.12553
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author Kadden, Daniel
Fowler, Grace
Engel, Elissa
Logan, Casey
Marathe, Kalyani
Gosdin, Craig
author_facet Kadden, Daniel
Fowler, Grace
Engel, Elissa
Logan, Casey
Marathe, Kalyani
Gosdin, Craig
author_sort Kadden, Daniel
collection PubMed
description X‐linked agammaglobulinemia (XLA) is a primary immunodeficiency caused by mutations in the gene for Bruton's tyrosine kinase (Btk), with affected males most commonly presenting with recurrent bacterial infections during the first few years of life. Here we present a 17‐month‐old male with a chief complaint of worsening rash and fever, whose history of streptococcal pneumonia meningitis at 5 months of age prompted suspicion for an underlying immunodeficiency and subsequent diagnosis of XLA. Bacterial meningitis is a rare initial presentation of XLA, and therefore physicians may easily overlook any underlying immunodeficiency. Prompt workup for immunodeficiency should be initiated in any vaccinated patient with a history of pneumococcal meningitis outside of the newborn period. Further discussion surrounding the various presentations of XLA, their related clinical manifestations and laboratory findings, and the importance of thorough chart review may encourage earlier diagnosis and initiation of treatment of this disease.
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spelling pubmed-84484822021-09-24 Streptococcal pneumonia meningitis as an initial presentation of X‐linked agammaglobulinemia: A case report and discussion Kadden, Daniel Fowler, Grace Engel, Elissa Logan, Casey Marathe, Kalyani Gosdin, Craig J Am Coll Emerg Physicians Open Pediatrics X‐linked agammaglobulinemia (XLA) is a primary immunodeficiency caused by mutations in the gene for Bruton's tyrosine kinase (Btk), with affected males most commonly presenting with recurrent bacterial infections during the first few years of life. Here we present a 17‐month‐old male with a chief complaint of worsening rash and fever, whose history of streptococcal pneumonia meningitis at 5 months of age prompted suspicion for an underlying immunodeficiency and subsequent diagnosis of XLA. Bacterial meningitis is a rare initial presentation of XLA, and therefore physicians may easily overlook any underlying immunodeficiency. Prompt workup for immunodeficiency should be initiated in any vaccinated patient with a history of pneumococcal meningitis outside of the newborn period. Further discussion surrounding the various presentations of XLA, their related clinical manifestations and laboratory findings, and the importance of thorough chart review may encourage earlier diagnosis and initiation of treatment of this disease. John Wiley and Sons Inc. 2021-09-17 /pmc/articles/PMC8448482/ /pubmed/34568871 http://dx.doi.org/10.1002/emp2.12553 Text en © 2021 The Authors. JACEP Open published by Wiley Periodicals LLC on behalf of American College of Emergency Physicians https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Pediatrics
Kadden, Daniel
Fowler, Grace
Engel, Elissa
Logan, Casey
Marathe, Kalyani
Gosdin, Craig
Streptococcal pneumonia meningitis as an initial presentation of X‐linked agammaglobulinemia: A case report and discussion
title Streptococcal pneumonia meningitis as an initial presentation of X‐linked agammaglobulinemia: A case report and discussion
title_full Streptococcal pneumonia meningitis as an initial presentation of X‐linked agammaglobulinemia: A case report and discussion
title_fullStr Streptococcal pneumonia meningitis as an initial presentation of X‐linked agammaglobulinemia: A case report and discussion
title_full_unstemmed Streptococcal pneumonia meningitis as an initial presentation of X‐linked agammaglobulinemia: A case report and discussion
title_short Streptococcal pneumonia meningitis as an initial presentation of X‐linked agammaglobulinemia: A case report and discussion
title_sort streptococcal pneumonia meningitis as an initial presentation of x‐linked agammaglobulinemia: a case report and discussion
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8448482/
https://www.ncbi.nlm.nih.gov/pubmed/34568871
http://dx.doi.org/10.1002/emp2.12553
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