ArticleMedicine2014
Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort.
Article in Medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 43 citations in OpenAlex.
- TTC7A deficiency: A retrospective international study on treatment and outcomes from the Inborn Errors Working Party of EBMT.Journal of human immunity · 2026Article
- Systematic review of phenotypes and genotypes of patients with gastrointestinal defects and immunodeficiency syndrome-1 (GIDID1) (related to TTC7A).Intractable & rare diseases research · 2024Review
- Inadvertent Acute Lipid Injectable Emulsion Overdose Resulting in Fat Overload Syndrome and Pancreatitis in a Patient with TPN Dependence.JPGN reports · 2022Article
- Common Variable Immunodeficiency-Associated Cancers: The Role of Clinical Phenotypes, Immunological and Genetic Factors.Frontiers in immunology · 2022Article
- Biallelic PI4KA variants cause neurological, intestinal and immunological disease.Brain : a journal of neurology · 2021Article
- Etiology and Management of Pediatric Intestinal Failure: Focus on the Non-Digestive Causes.Nutrients · 2021Review
- The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease.Scientific reports · 2020Article
- Lack of discreet colocalization of epithelial apoptosis to the atretic precursor in the colon of the Fibroblast growth factor receptor 2IIIb mouse and staining consistent with cellular movement suggest a revised model of atresia formation.Developmental dynamics : an official publication of the American Association of Anatomists · 2020Article
- Combined Immunodeficiency With Inflammatory Bowel Disease in a Patient With TTC7A Deficiency.ACG case reports journal · 2019Article
- Distinct Histopathological Features at Diagnosis of Very Early Onset Inflammatory Bowel Disease.Journal of Crohn's & colitis · 2019Article
- Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure.Cell discovery · 2018Article
- Bacille Calmette-Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010-2017.Frontiers in immunology · 2018Review
- Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy.Journal of clinical immunology · 2017Article
- Novel Mutations of theFrontiers in immunology · 2017Article
- Small Bowel Congenital Anomalies: a Review and Update.Current gastroenterology reports · 2016Review
- Educational Case: Intrauterine Fetal Demise and Intestinal Atresia: An Autopsy Investigation.Academic pathologyArticle
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 the morphology of several organs from HMIA patients at different developmental stages, as well as the expression of the TTC7A protein. We performed histological and immunohistochemical analyses on biopsies and autopsies of 6 patients and 1 fetus with HMIA. Moreover, we characterized for the first time the expression of the TTC7A protein by immunostaining it in several organs from control (including fetal samples), infants, and 1 fetus with HMIA. Besides the gastrointestinal tract, HMIA disease was associated with morphological alterations in multiple organs: thymus, lung, spleen, and liver. Moreover, we demonstrated that normal TTC7A protein was expressed in the cytoplasm of epithelial cells of the intestine, thymus, and pancreas. Surprisingly, altered TTC7A protein was highly expressed in tissues from patients, mainly in the epithelial cells. We have established that HMIA associated with a TTC7A defect is characterized by multiorgan impairments. Overall, this report suggests that TTC7A protein is critical for the proper development, preservation, and/or function of thymic and gastrointestinal epithelium.
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