title: Pneumocystis jiroveci pneumonia revealing de novo mutation causing X-linked hyper-IgM syndrome in an infant male. The first case reported from French Guiana.
abstract: BACKGROUND
  The X-linked hyper-IgM (XHIM) syndrome is a rare form of primary immunodeficiency disorder characterized by hypogammaglobulinemia and impaired cell immunity.
  
  
  METHODS
  We report history of Guianese family affected by XHIM syndrome. The eldest boy died at 7 months from pneumonia. The 5-month-old youngest boy presented with a potentially fatal episode of Pneumocystis jiroveci pneumonia. The diagnosis was done in the Pediatric Unit of Immunohematology of Hopital Necker in Paris.
  
  
  CONCLUSIONS
  This report points to the importance of diagnosis of XHIM to allow early treatment to minimize serious infections and to detect carriers in XHIM families for genetic counseling.
authors.affiliation: Pediatric Unit, Andree Rosemon Hospital, Cayenne, French Guiana. elengafr@yahoo.fr
authors.forename: Narcisse
authors.initials: N
authors.lastname: Elenga
authors.forename: Frederique
authors.initials: F
authors.lastname: Dulorme
authors.forename: Genevieve
authors.initials: G
authors.lastname: de Saint Basile
authors.forename: Aba
authors.initials: A
authors.lastname: Mahamat
mesh_terms: D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D053306:Hyper-IgM Immunodeficiency Syndrome / Q000235:genetics*; D007223:Infant; D008297:Male; D009154:Mutation; D045363:Pneumocystis carinii; D011020:Pneumonia, Pneumocystis / Q000209:etiology*