Congenital T cell deficiency in a patient with CHARGE syndrome

J Pediatr. 2009 Jan;154(1):140-2. doi: 10.1016/j.jpeds.2008.07.049.

Abstract

CHARGE syndrome is an autosomal dominant condition caused by mutations in chromodomain helicase DNA-binding 7. We report a patient with molecularly confirmed CHARGE syndrome, which included a congenital T cell deficiency, who was treated with peripheral blood mononuclear cell transplantation.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / immunology*
  • Choanal Atresia / immunology*
  • DNA Helicases / immunology
  • DNA-Binding Proteins / immunology
  • Fatal Outcome
  • Humans
  • Infant, Newborn
  • Leukocytes, Mononuclear / transplantation*
  • Lymphocyte Count
  • Male
  • Sequence Analysis, DNA
  • Syndrome
  • T-Lymphocytes / immunology*

Substances

  • DNA-Binding Proteins
  • DNA Helicases
  • CHD7 protein, human