Asthma Allergy Immunology

Asthma Allergy Immunology

Mutation in BTK Gene Causing an Atypical Presentation of XLA

Saliha ESENBO─×A 1, Hande UCLER 2, Sevil OSKAY HALACLI 3, Cagman TAN 3, Nergis KENDIRCI 4, Yu ZHANG 5-6, Helen SU 5-6, Deniz CAGDAS 1, Ilhan TEZCAN 1,

1 Department of Pediatrics, Division of Immunology, Hacettepe University Faculty of Medicine, Ankara, Turkey
2 Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
3 Department of Immunology, Hacettepe University, Institute of Child Health, Ankara, Turkey
4 Department of Pediatric Allergy and Immunology, Karadeniz Techical University, Faculty of Medicine, Trabzon, Turkey
5 Division of Intramural Research, Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, USA
6 NIAID Clinical Genomics Program, National Institutes of Health, Bethesda, USA

DOI: 10.21911/aai.033
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Patients with X-linked agammaglobulinemia (XLA) are susceptible to bacterial infections particularly due to encapsulated pyogenic bacteria, organisms for which opsonization by antibody is a primary host defense. Additionally, enteroviral encephalitis and chronic diarrhea due to Giardia are seen in XLA. However, fungal infections are rarely present. In this report, we describe the case of a 17 monthold boy with absent BTK protein expression caused by a novel de-novo variant of the BTK gene, who presented with neutropenic fever and sepsis caused by Candida and Pseudomonas aeruginosa.

Keywords : XLA, BTK, Fungal infection, Candida