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Article

Multiple intestinal atresia with combined immune deficiency.

Current opinion in pediatrics - 1 Dec 2014

Notarangelo Luigi D

Abstract excerpt

PURPOSE OF REVIEW: To update on the molecular and cellular basis of multiple intestinal atresia (MIA). RECENT FINDINGS: Mutations of the tetratricopeptide repeat domain 7A gene have been identified in patients with MIA and other related disorders, including MIA associated with combined immunodefi...

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Identifiers

PMID: 25268403
DOI: 10.1097/MOP.0000000000000159

Genes

MIA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25268403-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Multiple intestinal atresia with combined immune deficiency.PMID 25268403Read ↗

Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort.Semantic proximity Read ↗

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Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.Semantic proximity Read ↗

A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined ImmunodeficiencySemantic proximity Read ↗

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Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation.Semantic proximity Read ↗

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Exome sequencing identifies mutations in the gene <i>TTC7A</i> in French-Canadian cases with hereditary multiple intestinal atresiaSemantic proximity Read ↗

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