A novel missense mutation (Gln306His) in exon 7 of the ED1 gene causing anhidrotic ectodermal dysplasia with prominent milia-like facial sebaceous papules.

UNLABELLED: Thymus is a primary lymphoid organ whose main function is the education of the T lymphocytes. Thymoma is uncommon neoplasia derived from epithelial cells of the thymus. Patients with thymoma frequently present with autoimmune disorders, mostly myasthenia gravis. Good's syndrome (GS) is an acquired adult-onset combined immunodeficiency typically characterised by the triad of thymoma, hypogammaglobulinaemia and increased susceptibility to recurrent infections. Immunoglobulin replacement is the main therapeutic strategy. Our knowledge of thymoma-associated immunodeficiency is predominantly derived from case reports or small series. We report the case of a patient with recurrent sigmoid diverticulitis that appeared after a thymectomy, who was subsequently found to have severe hypogammaglobulinaemia.

LEARNING POINTS: Good's syndrome is a rare, acquired, adult-onset immunodeficiency.Good's syndrome remains an enigmatic disease.Immunoglobulin replacement is the main therapeutic strategy.