Pediatr Hematol Oncol. 2010 Nov;27(8):646-9.

Reticular dysgenesis in a preterm infant: a case report.

Cosar H, Kahramaner Z, Erdemir A, Kanik A, Turkoglu E, Sutcuoglu S, Ozturk C, Atabay B, Arun Ozer E.

Source

Clinics of Pediatrics, Tepecik Training and Research Hospital, Izmir, Turkey.

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.

PMID:: 20863163; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances, Supplementary Concepts

Publication Types

Case Reports

MeSH Terms

Substances

Granulocyte Colony-Stimulating Factor

Supplementary Concepts

Reticular dysgenesis

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