Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency

Picard C., von Bernuth H., Ghandil P., Chrabieh M., Levy O., Arkwright P. D., ...More

MEDICINE, vol.89, no.6, pp.403-425, 2010 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 89 Issue: 6
  • Publication Date: 2010
  • Doi Number: 10.1097/md.0b013e3181fd8ec3
  • Journal Name: MEDICINE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.403-425
  • Istanbul University Affiliated: No

Abstract

Autosomal recessive interleukin-1 receptor-associated kinase (IRAK)-4 and myeloid differentiation factor (MyD) 88 deficiencies impair Toll-like receptor (TLR)-and interleukin-1 receptor-mediated immunity. We documented the clinical features and outcome of 48 patients with IRAK-4 deficiency and 12 patients with MyD88 deficiency, from 37 kindreds in 15 countries.