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Pediatric Hematology and Oncology Volume 27, 2010 - Issue 8
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Case Report

RETICULAR DYSGENESIS IN A PRETERM INFANT: A Case Report

Hese CosarClinics of Pediatrics, Tepecik Training and Research Hospital, Izmir, Turkey
, MD,
Zelal KahramanerClinics of Pediatrics, Tepecik Training and Research Hospital, Izmir, Turkey
, MD,
Aydin ErdemırClinics of Pediatrics, Tepecik Training and Research Hospital, Izmir, Turkey
, MD,
Ali KanıkClinics of Pediatrics, Tepecik Training and Research Hospital, Izmir, Turkey
, MD,
Ebru TurkogluClinics of Pediatrics, Tepecik Training and Research Hospital, Izmir, Turkey
, MD,
Sumer SutcuogluClinics of Pediatrics, Tepecik Training and Research Hospital, Izmir, Turkey
, MD,
Can OzturkClinics of Pediatrics, Tepecik Training and Research Hospital, Izmir, Turkey
, MD,
Berna AtabayClinics of Pediatrics, Tepecik Training and Research Hospital, Izmir, Turkey
, MD &
Esra Arun OzerClinics of Pediatrics, Tepecik Training and Research Hospital, Izmir, TurkeyCorrespondence[email protected]
, MD show all
Pages 646-649 | Received 23 Jun 2010, Accepted 13 Jul 2010, Published online: 23 Sep 2010
 
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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.

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