Missense Mutation of TTC7A Mimicking Tricho-Hepato-Enteric (SD/THE) Syndrome in a Patient with Very-Early Onset Inflammatory Bowel Disease

• Autor(es): Farela Neves, J ; Afonso, I ; Borrego, L ; Martins, C ; Cordeiro, AI ; Neves, C ; Lacoste, C ; Badens, C ; Fabre, A
• Data: 2018
• Identificador Persistente: http://hdl.handle.net/10400.17/2971
• Origem: Repositório do Centro Hospitalar de Lisboa Central, EPE
• Assunto(s): SKIVL2; TTC37; TTC7A; Inflammatory Bowel Disease; HDE PED
• Tipo de Documento: Artigo científico
• Idioma: Inglês
• Contribuidor(es): Repositório da Unidade Local de Saúde São José

Descrição

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.