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.

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.

• Authors: Narcisse Elenga, Frederique Dulorme, Genevieve de Saint Basile, Aba Mahamat
• Journal: Journal of pediatric hematology/oncology (J Pediatr Hematol Oncol) Vol. 34 Issue 7 Pg. 528-30 (Oct 2012) ISSN: 1536-3678 [Electronic] United States
• PMID: 22983414 (Publication Type: Case Reports, Journal Article)

Topics

• Genetic Diseases, X-Linked (genetics)
• Humans
• Hyper-IgM Immunodeficiency Syndrome (genetics)
• Infant
• Male
• Mutation
• Pneumocystis carinii
• Pneumonia, Pneumocystis (etiology)