Severe congenital neutropenia unresponsive to G-CSF.
Severe congenital neutropenia (SCN) is an inherited disorder characterized by severe neutropenia and recurrent infections from an early age, with bone marrow showing a maturational arrest of granulopoiesis at the promyelocyte stage. Since the introduction of G-CSF therapy the prognosis for affected children has improved dramatically. We describe two patients with SCN who were clinically unresponsive to G-CSF therapy. The results of in-vitro colony assays from these two patients are presented together with the results from the mother of one of these patients who also has a chronic neutropenia, and a further child with SCN who responded to treatment with G-CSF.
Ryan
M
M
Children's Hospital, Birmingham.
Will
A M
AM
Testa
N
N
Hayworth
C
C
Darbyshire
P J
PJ
D000328:Adult; D002908:Chronic Disease; D003114:Colony-Forming Units Assay; D004351:Drug Resistance; D005260:Female; D016179:Granulocyte Colony-Stimulating Factor / Q000627:therapeutic use*; D006133:Growth Substances / Q000494:pharmacology; D006412:Hematopoietic Stem Cells; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009503:Neutropenia / Q000151:congenital* / Q000235:genetics / Q000628:therapy*
D006133:Growth Substances; D016179:Granulocyte Colony-Stimulating Factor