RETICULAR DYSGENESIS IN A PRETERM INFANT: A Case Report

Author: Cosar Hese   Kahramaner Zelal   Erdemır Aydin   Kanık Ali   Turkoglu Ebru   Sutcuoglu Sumer   Ozturk Can   Atabay Berna   Arun Ozer Esra  

Publisher: Informa Healthcare

ISSN: 1521-0669

Source: Pediatric Hematology and Oncology, Vol.27, Iss.8, 2010-10, pp. : 646-649

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Abstract

Reticular dysgenesis (RD) is a rare congenital immunodeficiency classified within the severe combined immunodeficiencies (SCIDs) and characterized by impairment of both lymphoid and myeloid cell development. Neutropenia unresponsive to recombinant human granulocyte colony-stimulating factor (rGCSF) is the hallmark of RD and the clinical course is rapidly fatal due to overwhelming infections. The authors report a female newborn at 32 weeks of gestation presenting with severe leukopenia at birth. The bone marrow showed a maturation arrest in the myeloid and lymphoid lineage. She had no response to granulocyte colony stimulating factor (rGCSF) treatment and died with sepsis at age of 2 months.