Reticular dysgenesis in a preterm infant: a case report.
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.
Cosar
Hese
H
Clinics of Pediatrics, Tepecik Training and Research Hospital, Izmir, Turkey.
Kahramaner
Zelal
Z
Erdemir
Aydin
A
Kanik
Ali
A
Turkoglu
Ebru
E
Sutcuoglu
Sumer
S
Ozturk
Can
C
Atabay
Berna
B
Arun Ozer
Esra
E
D016026:Bone Marrow Transplantation; D017809:Fatal Outcome; D005260:Female; D016179:Granulocyte Colony-Stimulating Factor / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D007970:Leukopenia / Q000175:diagnosis / Q000628:therapy; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis / Q000628:therapy
D016179:Granulocyte Colony-Stimulating Factor