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

Engelhardt K. R., MCGHEE S., Winkler S., SASSI A., Woellner C., Lopez-Herrera G., ...Daha Fazla

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, cilt.124, sa.6, ss.1289-1302, 2009 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 124 Sayı: 6
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1016/j.jaci.2009.10.038
  • Dergi Adı: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1289-1302
  • Anahtar Kelimeler: 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
  • İstanbul Üniversitesi Adresli: Evet

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.