Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency

J Clin Immunol. 2014 Aug;34(6):607-10. doi: 10.1007/s10875-014-0067-7. Epub 2014 Jun 17.

Abstract

In the past year, two centers reported autosomal recessive mutations in tetratricopeptide repeat domain 7A (TTC7A) gene in patients with multiple intestinal atresia and immunodeficiency. Here, we present clinical progress of an infant with multiple intestinal atresia and combined immunodeficiency who carries novel compound heterozygote mutations in TTC7A gene.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Base Sequence
  • DNA Mutational Analysis
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Infant, Newborn
  • Intestinal Atresia / complications
  • Intestinal Atresia / diagnosis*
  • Intestinal Atresia / genetics
  • Intestinal Mucosa / physiology*
  • Male
  • Molecular Sequence Data
  • Mutation, Missense / genetics
  • Pedigree
  • Polymorphism, Genetic
  • Proteins / genetics*
  • Sepsis / complications
  • Sepsis / diagnosis*
  • Sepsis / genetics
  • Severe Combined Immunodeficiency / complications
  • Severe Combined Immunodeficiency / diagnosis*
  • Severe Combined Immunodeficiency / genetics

Substances

  • Proteins
  • TTC7A protein, human

Supplementary concepts

  • Intestinal Atresia, Multiple