Farela Neves, JAfonso, IBorrego, LMartins, CCordeiro, AINeves, CLacoste, CBadens, CFabre, A2018-05-102018-05-102018-04Eur J Med Genet. 2018;61(4):185-188http://hdl.handle.net/10400.17/2971Tricho-hepato-enteric syndrome (SD/THE) and Multiple intestinal atresia with combined immune deficiency (MIA-CID) are autosomal recessive disorders that present immunological and gastrointestinal features. There are two different phenotypes of patients with TTC7A mutations: the severe form, caused by null mutations and leading to the classical MIA-CID; and the mild form, caused by missense mutations and leading to predominant features of VEO-IBD, less severe immunological involvement and hair abnormalities. We expand the knowledge about TTC7A deficiency, describing a patient with the mild phenotype of TTC7A deficiency but presenting overlapping features of SD/THE and MIA-CID: intestinal atresia and inflammatory bowel disease evocative of MIA-CID, but also dental abnormalities, huge forehead, liver abnormalities, autoimmune thyroiditis and hypogammaglobulinemia, evocative of SD/THE.engSKIVL2TTC37TTC7AInflammatory Bowel DiseaseHDE PEDjournal article10.1016/j.ejmg.2017.11.014