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[Gastrointestinal defects and immunodeficiency syndrome related to TTC7A gene variants in 3 children].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 May 2026

Mei H F, Xie T, Wang X H, Chen J J, Wu D W, Shi L P, Chen Z

Abstract excerpt

3例胃肠道功能障碍-免疫缺陷综合征患儿，男2例、女1例。2例在出生后不久起病，1例在胎龄33周起病；2例表现为极早发炎症性肠病及低丙种球蛋白血症，1例表现为多发性肠闭锁，3例患儿均存在反复感染；经内外科积极治疗后，效果不佳，2例于婴儿期死亡，1例于2月龄时放弃治疗。基因检测共检出TTC7A基因上3个新型变异（c.1186-1G>T、c.517G>C、c.185-202_517+829del）和1个已知变异（c.1213C>T），均评级为致病或可疑致病变异。.

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PMID: 41986272
DOI: 10.3760/cma.j.cn112140-20260108-00018

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