Abstract
Tricho-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.
Original language | English |
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Pages (from-to) | 185-188 |
Number of pages | 4 |
Journal | American journal of human genetics |
Volume | 61 |
Issue number | 4 |
Early online date | 22 Nov 2017 |
DOIs | |
Publication status | Published - Apr 2018 |
Keywords
- SKIVL2
- TTC37
- TTC7A
- Very early onset-inflammatory bowel disease