JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol.124, no.6, pp.1289-1302, 2009 (Peer-Reviewed Journal)
Article / Article
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Science Citation Index Expanded, Scopus
Autosomal recessive hyper-IgE syndrome, human gene mutation, DOCK8, primary immunodeficiency, molluscum contagiosum, recurrent infection, T cells, T(H)17 cells, eosinophils, IgE regulation, copy number variations, genomic deletions, IDENTIFICATION, REARRANGEMENTS, GENOME
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.