Mutation in BTK Gene Causing an Atypical Presentation of XLA

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ESENBOĞA S., ÜÇLER ÇINAR H., OSKAY HALAÇLI S., TAN Ç., Kendirci N., Zhang Y., ...More

ASTIM ALLERJI IMMUNOLOJI, vol.20, no.3, pp.197-201, 2022 (ESCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 20 Issue: 3
  • Publication Date: 2022
  • Doi Number: 10.21911/aai.033
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.197-201
  • Karadeniz Technical University Affiliated: Yes


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.