title: 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.affiliation: Clinics of Pediatrics, Tepecik Training and Research Hospital, Izmir, Turkey.
authors.forename: Hese
authors.initials: H
authors.lastname: Cosar
authors.forename: Zelal
authors.initials: Z
authors.lastname: Kahramaner
authors.forename: Aydin
authors.initials: A
authors.lastname: Erdemir
authors.forename: Ali
authors.initials: A
authors.lastname: Kanik
authors.forename: Ebru
authors.initials: E
authors.lastname: Turkoglu
authors.forename: Sumer
authors.initials: S
authors.lastname: Sutcuoglu
authors.forename: Can
authors.initials: C
authors.lastname: Ozturk
authors.forename: Berna
authors.initials: B
authors.lastname: Atabay
authors.forename: Esra
authors.initials: E
authors.lastname: Arun Ozer
mesh_terms: 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
chemical_list: D016179:Granulocyte Colony-Stimulating Factor