Background: The X-linked hyper-IgM (XHIM) syndrome is a rare form of primary immunodeficiency disorder characterized by hypogammaglobulinemia and impaired cell immunity.
Observation: 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.
∥Infectious Diseases and Hygiene Unit, Andree Rosemon Hospital, Cayenne, French Guiana
‡Université Paris Descartes, Sorbonne Paris Cité
§Centre d'Etudes des Déficits Immunitaires, AP-HP, Hôpital Necker-Enfants Malades, Paris, France
The authors declare no conflict of interest.
Reprints: Narcisse Elenga, MD, Pediatric Unit, CH Andrée Rosemon, Rue des Flamboyants, 97306 Cayenne Cedex, Guyane française, France (e-mail: firstname.lastname@example.org).
Received July 19, 2011
Accepted June 26, 2012