Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy

J Clin Immunol. 2017 Oct;37(7):617-622. doi: 10.1007/s10875-017-0427-1. Epub 2017 Aug 14.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Common Variable Immunodeficiency / diagnosis*
  • Common Variable Immunodeficiency / genetics
  • Diabetes Mellitus / diagnosis*
  • Diabetes Mellitus / genetics
  • Duodenum / diagnostic imaging
  • Duodenum / physiology*
  • Humans
  • Immunoglobulin Class Switching / genetics
  • Immunologic Memory / genetics
  • Intestinal Atresia / genetics*
  • Intestines / diagnostic imaging
  • Intestines / physiology*
  • Male
  • Mutation / genetics
  • Pedigree
  • Phenotype
  • Proteins / genetics*
  • Proteins / metabolism
  • Tetratricopeptide Repeat / genetics

Substances

  • Proteins
  • TTC7A protein, human

Supplementary concepts

  • Intestinal Atresia, Multiple