Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.17/2971
Título: Missense Mutation of TTC7A Mimicking Tricho-Hepato-Enteric (SD/THE) Syndrome in a Patient with Very-Early Onset Inflammatory Bowel Disease
Autor: Farela Neves, J
Afonso, I
Borrego, L
Martins, C
Cordeiro, AI
Neves, C
Lacoste, C
Badens, C
Fabre, A
Palavras-chave: SKIVL2
Inflammatory Bowel Disease
Data: Abr-2018
Editora: Elsevier Masson
Citação: Eur J Med Genet. 2018;61(4):185-188
Resumo: 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.
Peer review: yes
URI: http://hdl.handle.net/10400.17/2971
DOI: 10.1016/j.ejmg.2017.11.014
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