Reticular dysgenesis in a preterm infant: a case report.

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.

• Authors: Hese Cosar, Zelal Kahramaner, Aydin Erdemir, Ali Kanik, Ebru Turkoglu, Sumer Sutcuoglu, Can Ozturk, Berna Atabay, Esra Arun Ozer
• Journal: Pediatric hematology and oncology (Pediatr Hematol Oncol) Vol. 27 Issue 8 Pg. 646-9 (Nov 2010) ISSN: 1521-0669 [Electronic] England
• PMID: 20863163 (Publication Type: Case Reports, Journal Article)

Chemical References

• Granulocyte Colony-Stimulating Factor

Topics

• Bone Marrow Transplantation
• Fatal Outcome
• Female
• Granulocyte Colony-Stimulating Factor (therapeutic use)
• Humans
• Infant
• Leukopenia (diagnosis, therapy)
• Severe Combined Immunodeficiency (diagnosis, therapy)