Gastrointestinal Defects and Immunodeficiency Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the TTC7A gene encoding tetratricopeptide repeat protein 7A. It is characterized by multiple intestinal atresia, multi-organ impairment and associated with T- and B-cell dysfunction.

**Synonyms:** - CID with multiple intestinal atresia - CID-MIA - GIDID - Multiple Intestinal Atresia With Combined Immune Deficiency