Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease

• Autor(a) principal: Neves, JF
• Data de Publicação: 2018
• Outros Autores: Afonso, I, Borrego, L, Martins, C, Cordeiro, AI, Neves, C, Lacoste, C, Badens, C, Fabre, A
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10400.17/3047
• topic: Child, Preschool; Diagnosis, Differential; Diarrhea, Infantile; Facies; Female; Fetal Growth Retardation; Hair Diseases; Humans; Inflammatory Bowel Diseases; Intestinal Atresia; Proteins; Mutation, Missense; Phenotype; HDE PED; HDE GAS PED

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.