Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome

Tarih
2009
Yazar
THIEL, Jens
CHEN, Andrew
KIM, Hong Sook
LLORET, Maria Garcia
SCHULZE, Ilka
EHL, Stephan
PFEIFER, Dietmar
VEELKEN, Hendrik
NIEHUES, Tim
SIEPERMANN, Kathrin
WEINSPACH, Sebastian
Reisli, Ismail
Keles, Sevgi
GENEL, Ferah
Kutuculer, Necil
Karakoc-Aydiner, Elif
Barlan, Isil
GENNERY, Andrew
METIN, Ayse
DEGERLIYURT, Aydan
PIETROGRANDE, Maria C.
YEGANEH, Mehdi
BAZ, Zeina
AL-TAMEMI, Salem
KLEIN, Christoph
PUCK, Jennifer M.
HOLLAND, Steven M.
MCCABE, Edward R. B.
Grimbacher, Bodo
CHATILA, Talal A.
Camcioglu, Yildiz
Somer, Ayper
MCGHEE, Sean
Winkler, Sabine
Engelhardt, Karin R.
SASSI, Atfa
Woellner, Cristina
Lopez-Herrera, Gabriela
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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.
Bağlantı
http://hdl.handle.net/20.500.12627/38406
https://doi.org/10.1016/j.jaci.2009.10.038
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