title: Abnormalities of cytokine receptor signalling contributing to diseases of red blood cell production.
abstract: The production of erythroid cells is a dynamic and exquisitely regulated process. The mature red cell is only the final phase of a complex but orderly series of genetic events that are initiated at the time a multipotent stem cell becomes committed to expressing the erythroid programme. Aberrations either in the intrinsic generation and/or amplification of functional erythroid cells or in the regulatory influences of microenvironment or cytokines form the basis for a number of blood diseases. In this review we focus upon abnormalities in red blood cell production and discuss how alterations in cytokine regulation of red blood cell production may contribute to these disease processes. We discuss clinical states in which blood red cell numbers are altered, including primary familial and congenital polycythaemia, the myeloproliferative disorder polycythaemia vera, erythroleukaemia, and Diamond-Blackfan anaemia. These disorders are briefly described and evidence supporting a potential role of specific cytokine receptor signalling defects as contributing to these phenotypes is discussed.
authors.affiliation: Department of Pediatrics, University of Pittsburgh, PA, USA.
authors.forename: R K
authors.initials: RK
authors.lastname: Goyal
authors.forename: G D
authors.initials: GD
authors.lastname: Longmore
mesh_terms: D004921:Erythropoietin / Q000235:genetics / Q000502:physiology; D005199:Fanconi Anemia / Q000235:genetics / Q000503:physiopathology; D006402:Hematologic Diseases / Q000097:blood / Q000235:genetics* / Q000503:physiopathology; D006410:Hematopoiesis / Q000235:genetics / Q000502:physiology*; D006801:Humans; D004915:Leukemia, Erythroblastic, Acute / Q000235:genetics / Q000503:physiopathology; D009154:Mutation; D011086:Polycythemia / Q000097:blood / Q000151:congenital / Q000235:genetics / Q000503:physiopathology; D011087:Polycythemia Vera / Q000097:blood / Q000235:genetics / Q000503:physiopathology; D018121:Receptors, Cytokine / Q000235:genetics / Q000502:physiology*; D017467:Receptors, Erythropoietin / Q000502:physiology; D015398:Signal Transduction
chemical_list: D018121:Receptors, Cytokine; D017467:Receptors, Erythropoietin; D004921:Erythropoietin