Case Report: Prenatal diagnosis of gastrointestinal defects and immunodeficiency syndrome caused by compound heterozygous mutations in TTC7A gene

Case Report: Prenatal diagnosis of gastrointestinal defects and immunodeficiency syndrome caused by compound heterozygous mutations in TTC7A gene

Gastrointestinal defects and immunodeficiency syndrome (GIDID) is a rare and complex disorder characterized by concurrent dysfunction of the digestive and immune systems. Typically manifesting in infancy or early childhood, GIDID carries a severe prognosis with high early mortality rates. The syndro...

Full description

Saved in:
Bibliographic Details
Main Authors: Shuning Han, Miaomiao Wang, Pengzhen Jin, Jiawei Hong, Chunfei Xu, Minyue Dong
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-08-01
Series:Frontiers in Immunology
Subjects:
gastrointestinal defect and immunodeficiency
TTC7A
immune deficiency
enteropathy
whole exome sequencing
prenatal diagnosis
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2025.1611155/full
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items

Similar Items