Ontology highlight
ABSTRACT:
SUBMITTER: Prando C
PROVIDER: S-EPMC2946788 | biostudies-literature | 2010 Mar
REPOSITORIES: biostudies-literature
Prando Carolina C Boisson-Dupuis Stéphanie S Grant Audrey V AV Kong Xiao-Fei XF Bustamante Jacinta J Feinberg Jacqueline J Chapgier Ariane A Rose Yoann Y Jannière Lucile L Rizzardi Elena E Zhang Qiuping Q Shanahan Catherine M CM Viollet Louis L Lyonnet Stanislas S Abel Laurent L Ruga Ezia Maria EM Casanova Jean-Laurent JL
American journal of medical genetics. Part A 20100301 3
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare primary immunodeficiency associated with clinical disease caused by weakly virulent mycobacterial species. Interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic etiology of MSMD. We describe the clinical and genetic features of a 7-year-old Italian boy suffering from MSMD associated with a complex phenotype, including neonatal hyperglycemia, neuromuscular disease, and dysmorphic features. The child also developed necr ...[more]