Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects

Blood. 2015 Mar 5;125(10):1674-6. doi: 10.1182/blood-2014-08-595397.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • B-Lymphocytes / immunology
  • Consanguinity
  • DNA Mutational Analysis
  • Female
  • Homozygote
  • Humans
  • Infant, Newborn
  • Intestinal Atresia / genetics
  • Intestines / abnormalities*
  • Male
  • Mutation, Missense*
  • Pedigree
  • Proteins / genetics*
  • Proteins / immunology
  • Sequence Deletion
  • Severe Combined Immunodeficiency / genetics*
  • Severe Combined Immunodeficiency / immunology
  • T-Lymphocytes / immunology

Substances

  • Proteins
  • TTC7A protein, human