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Article

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

Genes - 4 May 2022

Diociaiuti Andrea, Caruso Roberta, Ricci Silvia, De Vito Rita, Strocchio Luisa, Castiglia Daniele, Zambruno Giovanna, El Hachem May

Abstract excerpt

Multiple intestinal atresia with combined immune deficiency (MIA-CID) is an autosomal recessive syndrome due to mutations in the TTC7A gene implicated in the polarization of intestinal and thymic epithelial cells. MIA-CID is lethal in the first year of life in the majority of patients. Dermatological manifestations have been reported in a few cases. We describe a child affected with MIA-CID due to a previously...

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Identifiers

PMID: 35627206
DOI: 10.3390/genes13050821
PMCID: PMC9141598

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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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