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

Niti Sardana Agarwal; Lesley Northrop; Kwame Anyane-Yeboa; Vimla S Aggarwal; Peter L Nagy; Yesim Yilmaz Demirdag

doi:10.1007/s10875-014-0067-7

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.

Authors

Niti Sardana Agarwal¹, Lesley Northrop, Kwame Anyane-Yeboa, Vimla S Aggarwal, Peter L Nagy, Yesim Yilmaz Demirdag

Affiliation

¹ Division of Allergy and Immunology, Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.

PMID: 24931897
DOI: 10.1007/s10875-014-0067-7

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