AUTHOR=Lanlokun Mosopefoluwa , Borden Amanda , Nieves Daime , Walter Jolan E. , Albright Deborah 

TITLE=X-Linked Agammaglobulinemia Presenting as Neutropenia: Case Report and an Overview of Literature

JOURNAL=Frontiers in Pediatrics

VOLUME=Volume 9 - 2021

YEAR=2021

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2021.633692

DOI=10.3389/fped.2021.633692

ISSN=2296-2360

ABSTRACT=X-linked agammaglobulinemia (XLA) is an inherited immunodeficiency caused by mutations in the Bruton Tyrosine Kinase (BTK) gene. Neutropenia is an important feature of and may be the initial abnormal laboratory finding for some patients with XLA. Though the pathophysiology of neutropenia in patients with XLA has not yet been well described, the two cases presented below strongly support evaluation for immunodeficiency in otherwise unexplained neutropenia in the setting of infections, particularly if they are male patients. Timely consideration of XLA in the population of neutropenic patients may also prevent invasive bone marrow biopsy that occurred for both cases in our report.