Gastrointestinal defects and immunodeficiency syndrome

Definition:

Gastrointestinal defects and immunodeficiency syndrome (GIDID) is a rare hereditary disease characterized by intestinal obstructions and profound immune defects. It has been suggested that TTC7A gene defects cause this disease.

References:

[1]. Rui Chen, et al. Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. J Allergy Clin Immunol. 2013 Sep;132(3):656-664.e17. [Content Brief]

[2]. Yaron Avitzur, et al. Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease. Gastroenterology. 2014 Apr;146(4):1028-39. [Content Brief]

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