Combined immunodeficiencies: twenty years experience from a single center in Turkey.
作者： H. Haluk Akar , Turkan Patıroglu , Michael Hershfield , Mirjam van der Burg
关键词:
摘要: Combined immunodeficiencies (CIDs) include a group of inherited monogenic disorders. CIDs are characterized by defective cellular and humoral immunities that lead to severe infections. can be classified according immunologic phenotypes as T(-)B(-)NK(-) CID, T(-)B(-)NK(+) T(-)B(+)NK(-) CID T(-)B(+)NK(+) CID. In 20-year period, from 1994 2014, total 40 patients were diagnosed at the Pediatric Immunology Erciyes University Medical Faculty in Kayseri, Turkey. The gender ratio (F/M) was 3/5. median age onset symptoms 2 months (range, 15 days - years). Of 14 CIDs, 6, (siblings), 1, 1 4 had mutation ADA, PNP, Artemis, RAG1 genes unknown genetic diagnosis respectively. 3, (siblings) 10 RAG1, XLF/Cernunnos 9 siblings, 5 ZAP70, IL2RG, DOCK8 MAGT1 ZAP70 26 (65%) died (35%) alive. Eight received HSCT (hematopoietic stem cell transplantation) with 62.5% survival rate. As result, presented infections first life have examined for CIDs. Shortening time would increase chance life-saving treatment patients.
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