Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome
KR Engelhardt, S McGhee, S Winkler, A Sassi… - Journal of Allergy and …, 2009 - Elsevier
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.
OBJECTIVES: We aimed to identify a gene that is mutated or deleted in autosomal recessive
hyper-IgE syndrome. METHODS: We performed genome-wide single nucleotide …
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.
OBJECTIVES: We aimed to identify a gene that is mutated or deleted in autosomal recessive
hyper-IgE syndrome. METHODS: We performed genome-wide single nucleotide …