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

KÖKER, MUSTAFA; Camcioglu, Yildiz; van Leeuwen, Karin; KILIÇ, SARA; Barlan, Isil; YILMAZ, MUSTAFA; Metin, Ayse; de Boer, Martin; AVCILAR, HÜSEYİN; PATIROĞLU, TÜRKAN; YILDIRAN, ALİŞAN; Yegin, Olcay; Tezcan, Ilhan; Sanal, Ozden; Roos, Dirk

doi:10.1016/j.jaci.2013.05.039

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

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

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, cilt.132, sa.5, ss.1156-1168, 2013 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 132 Sayı: 5
Basım Tarihi: 2013
Doi Numarası: 10.1016/j.jaci.2013.05.039
Dergi Adı: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.1156-1168
Çukurova Üniversitesi Adresli: Hayır

Özet

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.