Mutation in BTK Gene Causing an Atypical Presentation of XLA
ASTIM ALLERJI IMMUNOLOJI, vol.20, no.3, pp.197-201, 2022 (ESCI, Scopus, TRDizin)
- Publication Type: Article / Article
- Volume: 20 Issue: 3
- Publication Date: 2022
- Doi Number: 10.21911/aai.033
- Journal Name: ASTIM ALLERJI IMMUNOLOJI
- Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
- Page Numbers: pp.197-201
- Open Archive Collection: AVESIS Open Access Collection
- Karadeniz Technical University Affiliated: Yes
Abstract
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 month-old 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.