Combined Immunodeficiency due to DOCK8 Deficiency: A Tribute to Prof. Isil Berat Barlan, M.D.
Küçük Resim Yok
Tarih
2015
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Turkish Soc Immunology
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
The 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.
Açıklama
Anahtar Kelimeler
Cdc42, Dedicator Of Cytokinesis 8, Hyper Ige Syndrome, Immunodeficiency, Signal Transducer And Activator Of Transcription 3
Kaynak
Turkish Journal Of Immunology
WoS Q Değeri
Scopus Q Değeri
Q4
Cilt
3
Sayı
2
