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Pneumocystis jiroveci Pneumonia Revealing De Novo Mutation Causing X-Linked Hyper-IgM Syndrome in an Infant Male. The First Case Reported From French Guiana

Elenga, Narcisse MD; Dulorme, Frederique MD; de Saint Basile, Genevieve MD, PhD; Mahamat, Aba MD, PhD

Journal of Pediatric Hematology/Oncology: October 2012 - Volume 34 - Issue 7 - p 528–530
doi: 10.1097/MPH.0b013e318266ba8e
Clinical and Laboratory Observations

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.

*Pediatric Unit

Infectious Diseases and Hygiene Unit, Andree Rosemon Hospital, Cayenne, French Guiana

INSERM U768

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: elengafr@yahoo.fr).

Received July 19, 2011

Accepted June 26, 2012

Copyright © 2012 Wolters Kluwer Health, Inc. All rights reserved.