First reported case of Omenn syndrome in a patient with reticular dysgenesis

J Allergy Clin Immunol. 2013 Apr;131(4):1227-30, 1230.e1-3. doi: 10.1016/j.jaci.2012.07.045. Epub 2012 Sep 24.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenylate Kinase / genetics
  • Adenylate Kinase / immunology
  • Consanguinity
  • Humans
  • Infant, Newborn
  • Leukopenia / complications
  • Leukopenia / genetics
  • Leukopenia / immunology
  • Leukopenia / pathology*
  • Male
  • Mutation
  • Severe Combined Immunodeficiency / complications
  • Severe Combined Immunodeficiency / genetics
  • Severe Combined Immunodeficiency / immunology
  • Severe Combined Immunodeficiency / pathology*
  • T-Lymphocytes / immunology
  • T-Lymphocytes / pathology

Substances

  • Adenylate Kinase
  • adenylate kinase 2

Supplementary concepts

  • Reticular dysgenesis