Novel Exonic Deletions in TTC7A in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency

J Clin Immunol. 2019 Aug;39(6):616-619. doi: 10.1007/s10875-019-00669-6. Epub 2019 Jul 24.
No abstract available

Keywords: Multiple intestinal atresia; TTC7A; VEOIBD; combined immunodeficiency.

Publication types

  • Letter

MeSH terms

  • Biomarkers
  • Biopsy
  • Exons*
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans
  • Immunohistochemistry
  • Infant, Newborn
  • Intestinal Atresia / diagnosis*
  • Intestinal Atresia / genetics*
  • Male
  • Phenotype
  • Proteins / genetics*
  • Sequence Deletion*
  • Severe Combined Immunodeficiency / diagnosis*
  • Severe Combined Immunodeficiency / genetics*

Substances

  • Biomarkers
  • Proteins
  • TTC7A protein, human

Supplementary concepts

  • Intestinal Atresia, Multiple