Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome
Makaleler > Tam Makale · 2009
Yazarlar: Karin R. Engelhardt, Sean MCGHEE, Sabine Winkler, Atfa SASSI, Cristina Woellner, Gabriela Lopez-Herrera, Andrew CHEN, Hong Sook KIM, Maria Garcia LLORET, Ilka SCHULZE, Stephan EHL, Jens THIEL, Dietmar PFEIFER, Hendrik VEELKEN, Tim NIEHUES, Kathrin SIEPERMANN, Sebastian WEINSPACH, Ismail Reisli, Sevgi Keles, Ferah GENEL, Necil KÜTÜKÇÜLER, Yildiz Camcioglu, Ayper Somer, Elif Karakoc-Aydiner, Isil Barlan, Andrew GENNERY, Ayse METIN, Aydan DEGERLIYURT, Maria C. PIETROGRANDE, Mehdi YEGANEH, Zeina BAZ, Salem AL-TAMEMI, Christoph KLEIN, Jennifer M. PUCK, Steven M. HOLLAND, Edward R. B. MCCABE, Bodo Grimbacher, Talal A. CHATILA
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2009, cilt 124, ss 1289-1302.e4
DOI: 10.1016/j.jaci.2009.10.038
Özet
Background: The genetic etiologies of the hyper-IgE syndromes are diverse. Approximately 60% to 70% of patients with hyper-IgE syndrome have dominant mutations in STAT3, and a single patient was reported to have a homozygous TYK2 mutation. In the remaining patients with hyper-IgE syndrome, the genetic etiology has not yet been identified.