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A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency

15 Dec 2021

Abstract excerpt

Rare autosomal-recessive variants in tetratricopeptide repeat domain 7A ( TTC7A ) gene have been shown to cause intestinal and immune disorders of variable severity. Missense mutations in TTC7A gene, usually retaining most of the functional motifs, is associated with relative milder clinical presentations. In this study, we reported a patient who was suffering from severe multiple intestinal atresia (MIA) with...

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PMID: 34975848
DOI: 10.3389/fimmu.2021.759308

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