Seven chronic granulomatous disease cases in a single-center experience and a review of the literature
ASIAN PACIFIC JOURNAL OF ALLERGY AND IMMUNOLOGY, cilt.36, sa.1, ss.35-41, 2018 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Derleme
- Cilt numarası: 36 Sayı: 1
- Basım Tarihi: 2018
- Doi Numarası: 10.12932/ap0859
- Dergi Adı: ASIAN PACIFIC JOURNAL OF ALLERGY AND IMMUNOLOGY
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.35-41
- Anahtar Kelimeler: Children, chronic granulomatous disease, invasive fungal disease, NADPH oxidase, primary immunodeficiency, MANAGEMENT, MUTATIONS, INFECTIONS, FAMILIES, COHORT
- Ondokuz Mayıs Üniversitesi Adresli: Evet
Özet
Background: Chronic granuloniatous disease (CGD) is a rare primary immunodeficiency caused by defects in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase enzyme system. this disease causes the disordered functioning of phagocytic cells. It is characterized by life-threatening and/or recurrent infections by bacteria and fungi. CGD has both an X-linked recessive (X-CGD) and autosomal recessive (AR-CGD) phenotypes. AR form have four subtypes including defects with one of these NADPH oxidase components (p22, p40, p47 and p67(Phox)).