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Öğe Clinical Presentation, Long-Term Outcome and Therapeutic Management of DOCK8 Deficiency-an International Survey of 125 Patients(Springer/Plenum Publishers, 2012) Albert, Michael H.; Aydin, Susanne; Alsum, Zobaida; Chatila, Talal; Su, Helen; Heinz, Valerie; Al-Herz, Waleed[Abstract Not Availabe]Öğe Combined Immunodeficiency due to DOCK8 Deficiency: A Tribute to Prof. Isil Berat Barlan, M.D.(Turkish Soc Immunology, 2015) Keles, Sevgi; Chatila, TalalThe hyper IgE syndrome (HIES) is an immunodeficiency characterized by recurrent infections, eczema, and elevated serum IgE concentrations. An autosomal dominant form (AD-HIES) is caused by mutations in the transcription factor STAT3 gene. An autosomal recessive form (AR-HIES) was described in 2004, and is particularly over-represented in Turkish population with HIES. Subsequent studies led to the discovery of the gene encoding the Dedicator of Cytokinesis 8 (DOCK8) as the target of mutations in the overwhelming majority of patients with AR-HIES. This review retraces the steps leading to the discovery of DOCK8 deficiency and the critical role played in the process by Prof. Isil Berat Barlan, M.D., as well as detailing our current knowledge of this disorder and future directions in its investigation and therapy.Öğe HSCT for DOCK8 Deficiency - an International Study on 74 Patients(Elsevier Science Inc, 2016) Aydin, Susanne; Freeman, Alexandra F.; Su, Helen; Hickstein, Dennis; Pai, Sung-Yun; Geha, Raif; Chatila, Talal[Abstract Not Availabe]
