title: Pathophysiology of Kostmann syndrome: the G-CSF receptor issue.
abstract: Kostmann Syndrome is defined as a chronic neutropenia, dating from early childhood, characterized typically by a granulopoeisis impairment at the promyelocyte stage. The origin is not yet understood. G-CSF receptor anomaly -the intra-cellular carboxy terminal region- was noted in a few patients (6 out of 54), initially in two patients who later developed secondary leukemia. More follow-up, with other patients, led us to consider the mutation of the G-CSF receptor sometimes as a transient event, not systematically resulting in malignancy. This finding directs research toward intra-cellular signaling pathway in a pathology that raises questions both of granulopoeisis and leukemogenesis.
authors.affiliation: Service d'Hématologie Infantile, Hôpital Trousseau, Paris, France.
authors.forename: J
authors.initials: J
authors.lastname: Donadieu
mesh_terms: D002897:Chromosomes, Human, Pair 7; D002908:Chronic Disease; D006801:Humans; D009503:Neutropenia / Q000097:blood* / Q000209:etiology / Q000235:genetics; D016188:Receptors, Granulocyte Colony-Stimulating Factor / Q000172:deficiency / Q000235:genetics*; D013577:Syndrome
chemical_list: D016188:Receptors, Granulocyte Colony-Stimulating Factor