The X-linked hyper-IgM (XHIM) syndrome is a rare form of primary immunodeficiency disorder characterized by hypogammaglobulinemia and impaired cell immunity.
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.
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