Huang Zhaowei, Zhi Xiufang, Geng Qiuyu, Yuan Xiaoqi, Zhao Xiaoxia, Qin Qi, Lou Jingan, Tong Fan, Tou Jinfa, Lai Dengming
Department of Neonatal Surgery, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Department of Anesthesiology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Clin Rev Allergy Immunol. 2025 Jan 28;68(1):7. doi: 10.1007/s12016-024-09017-y.
Gastrointestinal Defects and Immunodeficiency Syndrome-1 (GIDID-1), caused by abnormalities in TTC7A, is an autosomal recessive disorder characterized by multiple gastrointestinal malformations and immune deficiencies, often accompanied by inflammatory bowel disease (IBD). This condition typically results in poor treatment outcomes and is usually fatal in early infancy. This paper examined the genetic abnormalities and clinical features of GIDID by analyzing data from three children and one fetus with gastrointestinal dysfunction and immune deficiency associated with TTC7A abnormalities at our hospital, and reviewed reported cases worldwide. Genetic analysis of the four patients identified eight novel variants in the TTC7A, five of which were likely pathogenic variants, while three were of uncertain significance. Including the cases reported in this paper and through a literature review, there were 89 known cases globally, involving 79 TTC7A variants. Patients typically presented with multiple gastrointestinal malformations, immune deficiencies, or IBD. Thus, genetic testing is recommended for patients with multiple gastrointestinal malformations and recurrent infections to determine if GIDID is due to TTC7A abnormalities. The syndrome generally has a poor prognosis, and this information is crucial for treatment planning, prenatal screening, and genetic counseling.
由TTC7A异常引起的胃肠道缺陷与免疫缺陷综合征-1（GIDID-1）是一种常染色体隐性疾病，其特征为多种胃肠道畸形和免疫缺陷，常伴有炎症性肠病（IBD）。这种疾病通常导致治疗效果不佳，且在婴儿早期通常是致命的。本文通过分析我院3例儿童和1例胎儿的胃肠道功能障碍及与TTC7A异常相关的免疫缺陷数据，研究了GIDID的基因异常和临床特征，并回顾了全球已报道的病例。对这4例患者的基因分析在TTC7A中鉴定出8个新变异，其中5个可能是致病变异，3个意义不明确。包括本文报道的病例以及通过文献回顾，全球共有89例已知病例，涉及79个TTC7A变异。患者通常表现为多种胃肠道畸形、免疫缺陷或IBD。因此，建议对有多种胃肠道畸形和反复感染的患者进行基因检测，以确定GIDID是否由TTC7A异常引起。该综合征总体预后较差，这些信息对于治疗规划、产前筛查和遗传咨询至关重要。
