Associated Papers
TTC7A Variants Results in Gastrointestinal Defects and Immunodeficiency Syndrome: Case Series and Literature Review.
Huang Z et al.
Clinical Reviews in Allergy & Immunology, 2025
Overcoming problematic growth phenotypes in organoids from patients with monogenic GI disease.
Bugda Gwilt K et al.
Plos One, 2024
Pediatric Gastrointestinal Histopathology in Patients With Tetratricopeptide Repeat Domain 7A (TTC7A) Germline Mutations: A Rare Condition Leading to Multiple Intestinal Atresias, Severe Combined Immunodeficiency, and Congenital Enteropathy.
Dannheim K et al.
The American Journal of Surgical Pathology, 2022
TTC7A: Steward of Intestinal Health.
Jardine S et al.
Cellular and Molecular Gastroenterology and Hepatology, 2019
Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency.
El-Daher MT et al.
Frontiers in Immunology, 2019
Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure.
El-Daher MT et al.
Cell Discovery, 2018
Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy.
Lawless D et al.
Journal of Clinical Immunology, 2017
Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency.
Lemoine R et al.
The Journal of Allergy and Clinical Immunology, 2014
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