Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.
The Journal of allergy and clinical immunology, cilt.132, sa.5, 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: The Journal of allergy and clinical immunology
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Anahtar Kelimeler: Chronic granulomatous disease, dihydrorhodamine-1,2,3 assay, CYBB, CYBA, NCF1, NCF2, nicotinamide dinucleotide phosphate reduced oxidase, mean fluorescence intensity, stimulation index, TERM-FOLLOW-UP, MUTATIONS, FAMILIES, FEATURES, TURKEY
- Bursa Uludağ Üniversitesi Adresli: Evet
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.