A Novel TTC7A Deficiency Presenting With Combined Immunodeficiency and Chronic Gastrointestinal Problems

J Investig Allergol Clin Immunol. 2018 Oct;28(5):358-360. doi: 10.18176/jiaci.0290.
No abstract available

Keywords: Combined Immunodeficiency; Gastrointestinal; Tetratricopeptide repeat domain 7A (TTC7A).

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chronic Disease
  • Female
  • Gastrointestinal Diseases / immunology*
  • Humans
  • Immunologic Deficiency Syndromes / genetics
  • Immunologic Deficiency Syndromes / immunology*
  • Proteins / genetics*
  • Severe Combined Immunodeficiency / genetics
  • Severe Combined Immunodeficiency / immunology*

Substances

  • Proteins
  • TTC7A protein, human