Major histocompatibility complex class II deficiency in Kuwait: clinical manifestations, immunological findings and molecular profile

J Clin Immunol. 2013 Apr;33(3):513-9. doi: 10.1007/s10875-012-9831-8. Epub 2012 Nov 10.

Abstract

Major Histocompatibility Complex (MHC) class II deficiency is a combined primary immunodeficiency disease that leads to overwhelming and recurrent infections. It was found to account for 19 % of combined immune deficiency cases in the National Primary Immunodeficiency Disorders Registry in Kuwait, a country with high prevalence of consanguinity. We present the clinical, immunologic and molecular features of 11 Kuwaiti patients who presented with MHC class II deficiency between 2004 and 2011.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Consanguinity
  • DNA-Binding Proteins
  • Female
  • Gene Order
  • Hematopoietic Stem Cell Transplantation
  • Histocompatibility Antigens Class II / genetics*
  • Histocompatibility Antigens Class II / immunology
  • Humans
  • Immunoglobulins, Intravenous
  • Kuwait / epidemiology
  • Male
  • Middle Aged
  • Mutation
  • Registries
  • Severe Combined Immunodeficiency / diagnosis
  • Severe Combined Immunodeficiency / epidemiology*
  • Severe Combined Immunodeficiency / genetics*
  • Severe Combined Immunodeficiency / therapy
  • Transcription Factors / genetics
  • Treatment Outcome
  • Young Adult

Substances

  • DNA-Binding Proteins
  • Histocompatibility Antigens Class II
  • Immunoglobulins, Intravenous
  • RFXANK protein, human
  • Transcription Factors