Published January 1, 2013
| Version v1
Journal article
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Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients
Creators
- 1. Istanbul Univ, Pediat Infect Dis Clin Immunol & Allergy Div, Cerrahpasa Med Sch, Istanbul, Turkey
- 2. Univ Amsterdam, Acad Med Ctr, Sanquin Res & Landsteiner Lab, NL-1012 WX Amsterdam, Netherlands
- 3. Uludag Univ, Fac Med, Pediat Immunol Div, Bursa, Turkey
- 4. Univ Marmara, Pediat Allergy & Immunol Div, Fac Med, Istanbul, Turkey
- 5. Cukurova Univ, Fac Med, Pediat Allergy & Immunol Div, Adana, Turkey
- 6. Ankara Hematol Oncol Hosp Children, Pediat Immunol Div, Ankara, Turkey
- 7. Technoc Univ Erciyes, Kok Biotek Co, Kayseri, Turkey
- 8. Erciyes Univ, Fac Med, Pediat Hematol & Immunol Div, Kayseri, Turkey
- 9. Univ 19 Mayis, Fac Med, Pediat Allergy & Immunol Div, Samsun, Turkey
- 10. Akdeniz Univ, Fac Med, Pediat Immunol Div, TR-07058 Antalya, Turkey
- 11. Hacettepe Univ, Pediat Immunol Div, Fac Med, TR-06100 Ankara, Turkey
Description
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.
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