Mutation in BTK Gene Causing an Atypical Presentation of XLA
Asthma Allergy Immunology, cilt.20, sa.3, ss.197-201, 2022 (ESCI, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 20 Sayı: 3
- Basım Tarihi: 2022
- Doi Numarası: 10.21911/aai.033
- Dergi Adı: Asthma Allergy Immunology
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.197-201
- Anahtar Kelimeler: XLA, BTK, Fungal infection, Candida
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Erciyes Üniversitesi Adresli: Hayır
Özet
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.