Systematic review of phenotypes and genotypes of patients with gastrointestinal defects and immunodeficiency syndrome-1 (GIDID1) (related to TTC7A).
TTC7A
enteropathy
gastrointestinal defect and immunodeficiency-1
immune deficiency
intestinal atresia
Journal
Intractable & rare diseases research
ISSN: 2186-3644
Titre abrégé: Intractable Rare Dis Res
Pays: Japan
ID NLM: 101586847
Informations de publication
Date de publication:
31 May 2024
31 May 2024
Historique:
received:
22
11
2023
revised:
02
02
2024
accepted:
31
03
2024
medline:
5
6
2024
pubmed:
5
6
2024
entrez:
5
6
2024
Statut:
ppublish
Résumé
The objective was to conduct a comprehensive review of the morbidity and mortality observed in published patients with gastrointestinal defects and immunodeficiency syndrome-1 (GIDID1) related to TTC7A abnormalities. This included phenotypic, genotypic, and therapeutic aspects. Twenty-seven articles were included, which represented a total of 83 patients. Mortality was of 65.8% of the cases with a mean death at 11.8 months. The mortality rate was 197.1 per 1,000 patients-years, which is significantly higher than other enteropathy types caused by defects in epithelial trafficking and polarity (such as
Identifiants
pubmed: 38836179
doi: 10.5582/irdr.2023.01109
pmc: PMC11145403
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
89-98Informations de copyright
2024, International Research and Cooperation Association for Bio & Socio - Sciences Advancement.
Déclaration de conflit d'intérêts
None.The authors have no conflicts of interest to disclose.