Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients

---

Copy For Citation

KÖKER M. Y., Camcioglu Y., van Leeuwen K., KILIÇ S. Ş., Barlan I., YILMAZ M., ...More

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol.132, no.5, pp.1156-1168, 2013 (SCI-Expanded)

• Publication Type: Article / Article
• Volume: 132 Issue: 5
• Publication Date: 2013
• Doi Number: 10.1016/j.jaci.2013.05.039
• Journal Name: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.1156-1168
• Istanbul University Affiliated: Yes

Abstract

Background: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder of phagocytes resulting in impaired killing of bacteria and fungi. A mutation in one of the 4 genes encoding the components p22(phox), p47(phox), p67(phox), and p40(phox) of the leukocyte nicotinamide dinucleotide phosphate reduced (NADPH) oxidase leads to autosomal recessive (AR) CGD. A mutation in the CYBB gene encoding gp91(phox) leads to X-linked recessive CGD.