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: J Donadieu
• Journal: Hematology and cell therapy (Hematol Cell Ther) Vol. 39 Issue 2 Pg. 102-4 (Apr 1997) ISSN: 1269-3286 [Print] France
• PMID: 9168308 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)

Chemical References

• Receptors, Granulocyte Colony-Stimulating Factor

Topics

• Chromosomes, Human, Pair 7
• Chronic Disease
• Humans
• Neutropenia (blood, etiology, genetics)
• Receptors, Granulocyte Colony-Stimulating Factor (deficiency, genetics)
• Syndrome