title: Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency.
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.
authors.affiliation: Division of Allergy and Immunology, Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.
authors.forename: Niti Sardana
authors.initials: NS
authors.lastname: Agarwal
authors.forename: Lesley
authors.initials: L
authors.lastname: Northrop
authors.forename: Kwame
authors.initials: K
authors.lastname: Anyane-Yeboa
authors.forename: Vimla S
authors.initials: VS
authors.lastname: Aggarwal
authors.forename: Peter L
authors.initials: PL
authors.lastname: Nagy
authors.forename: Yesim Yilmaz
authors.initials: YY
authors.lastname: Demirdag
mesh_terms: D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D007409:Intestinal Atresia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D007413:Intestinal Mucosa / Q000502:physiology*; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics*; D018805:Sepsis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D016511:Severe Combined Immunodeficiency / Q000150:complications / Q000175:diagnosis* / Q000235:genetics
chemical_list: D011506:Proteins; C583818:TTC7A protein, human