Skip Navigation LinksHome > October 2012 - Volume 34 - Issue 7 > Pneumocystis jiroveci Pneumonia Revealing De Novo Mutation C...
Journal of Pediatric Hematology/Oncology:
doi: 10.1097/MPH.0b013e318266ba8e
Clinical and Laboratory Observations

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

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Abstract

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.

© 2012 Lippincott Williams & Wilkins, Inc.

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