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Article

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

Medicine - 1 Dec 2014

Fernandez Isabel, Patey Natalie, Marchand Valérie, Birlea Mirela, Maranda Bruno, Haddad Elie, Decaluwe Hélène, Le Deist Françoise

Abstract excerpt

Hereditary multiple intestinal atresia (HMIA) is a rare cause of intestinal obstruction in humans associated with a profound combined immune deficiency. Deleterious mutations of the tetratricopeptide repeat domain-7A (TTC7A) gene lead to HMIA, although the mechanism(s) causing the disease in TTC7A deficiency has (have) not yet been clearly identified. To evaluate the consequences of TTC7A deficiency, we studied...

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Identifiers

PMID: 25546680
DOI: 10.1097/MD.0000000000000327
PMCID: PMC4602622

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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