Advances in understanding the pathogenesis of primary familial and congenital polycythaemia

British Journal of Haematology
Lily Jun-shen HuangGamze B Bulut


Primary familial and congenital polycythemia (PFCP) is an autosomal-dominant proliferative disorder characterized by erythrocytosis and hypersensitivity of erythroid progenitors to erythropoietin (Epo). Several lines of evidence suggest a causal role of truncated erythropoietin receptor (EpoR) in this disease. In this review, we discuss PFCP in the context of erythrocytosis and EpoR signalling. We focus on recent studies describing mechanisms underlying Epo-dependent EpoR down-regulation. One mechanism depends on internalization mediated through the p85 regulatory subunit of the Phosphoinositide 3-Kinase, and the other utilizes ubiquitin-based proteasomal degradation. Truncated PFCP EpoRs are not properly down-regulated upon stimulation, underscoring the importance of these mechanisms in the pathogenesis of PFCP.


May 27, 1988·Deutsche medizinische Wochenschrift·W QueisserP Worst
Jun 1, 1966·The Journal of Clinical Investigation·S CharacheJ B Clegg
Jun 30, 1995·Science·J T PrchalL Sokol
May 15, 1993·Proceedings of the National Academy of Sciences of the United States of America·A de la ChapelleE Juvonen
Aug 6, 1996·Proceedings of the National Academy of Sciences of the United States of America·U KlingmüllerHarvey F Lodish
Apr 1, 1997·Proceedings of the National Academy of Sciences of the United States of America·U KlingmüllerHarvey F Lodish
Jun 26, 1997·Nature·R StarrDouglas J Hilton
Mar 6, 1998·British Journal of Haematology·M J PercyT C Pearson
May 14, 1999·Trends in Endocrinology and Metabolism : TEM·Stefan N ConstantinescuHarvey F Lodish
Feb 8, 2000·The Journal of Biological Chemistry·J M MasonDwayne L Barber
Feb 7, 2001·Proceedings of the National Academy of Sciences of the United States of America·V DivokyJ T Prchal
Sep 18, 2001·American Journal of Hematology·R Kralovics, Josef T Prchal
May 25, 2002·European Journal of Biochemistry·Michael HörtnerSerge Haan
Aug 9, 2002·The Journal of Biological Chemistry·Xin ChuBarbara A Miller
Nov 11, 2003·The Journal of Biological Chemistry·Samuel Wormald, Douglas J Hilton
May 15, 2004·British Journal of Haematology·K B PetersenC Guldborg Nyvold
Jun 26, 2004·Journal of Pediatric Hematology/oncology·Tom Van MaerkenJoris Verlooy
Sep 14, 2004·Leukemia & Lymphoma·Ismail Oguz Kara, Berksoy Sahin
Oct 19, 2004·Archives of Biochemistry and Biophysics·C Ainsley DavisMichael J Barber
Feb 3, 2005·Nature Reviews. Molecular Cell Biology·Matthew D Petroski, Raymond J Deshaies
Feb 11, 2005·Proceedings of the National Academy of Sciences of the United States of America·Sara SigismundSimona Polo
Feb 24, 2005·Current Opinion in Hematology·Josef T Prchal
Mar 4, 2005·American Journal of Medical Genetics. Part a·Deniz YilmazDirk Roos
Mar 9, 2005·Trends in Cell Biology·Terri D RichmondDwayne L Barber
Oct 8, 2005·Seminars in Hematology·Radek Skoda, Josef T Prchal
Dec 8, 2005·Blood·Madhu P MenonDon M Wojchowski
Jan 13, 2006·Proceedings of the National Academy of Sciences of the United States of America·Melanie J PercyFrank S Lee
Mar 3, 2006·The Journal of Clinical Investigation·Madhu P MenonDon M Wojchowski
Mar 10, 2006·Blood Cells, Molecules & Diseases·Don M WojchowskiOleg Bogachev
Apr 13, 2006·European Journal of Haematology·Lambros K BourantasIoannis Georgiou
May 18, 2006·Blood·Vinit G KarurDon M Wojchowski
Jan 11, 2008·The New England Journal of Medicine·Melanie J PercyFrank S Lee
Mar 18, 2008·Blood Cells, Molecules & Diseases·Elisa FermoAlberto Zanella
Aug 7, 2008·Seminars in Cell & Developmental Biology·William VainchenkerStefan N Constantinescu
Sep 10, 2008·Blood·Ross L Levine, D Gary Gilliland
Sep 17, 2008·Journal of Internal Medicine·E RumiM Lazzarino
Sep 27, 2008·Annals of Hematology·F A González FernándezA Henández
Dec 17, 2008·The Journal of Biological Chemistry·Iwona Hirschler-LaszkiewiczBarbara A Miller
Dec 19, 2008·The New England Journal of Medicine·Charline LadroueBetty Gardie
Mar 20, 2009·Leukemia·M M Patnaik, A Tefferi


Mar 26, 2011·International Journal of Hematology·Kacey O'RourkeGlen A Kennedy
Feb 10, 2016·Cancer Cell·Ilaria IacobucciCharles G Mullighan
May 27, 2015·British Journal of Haematology·Aurelie ChauveauValérie Ugo
Feb 2, 2016·La Revue de médecine interne·T BarbaM Pavic
May 3, 2013·Kidney International·Ming-Chang HuOrson W Moe
Apr 3, 2012·Hematology/oncology Clinics of North America·Marina KremyanskayaRonald Hoffman
Dec 1, 2010·Surgical Pathology Clinics·Mihaela Onciu
Aug 1, 2015·Blood Cells, Molecules & Diseases·Ana R Costa-BritoFernando A Arosa
May 23, 2012·Blood·F Passamonti
Oct 12, 2013·Blood·Gamze B BulutLily Jun-shen Huang
May 10, 2018·International Journal of Laboratory Hematology·C Bento
May 28, 2019·European Journal of Haematology·Nabhajit MallikReena Das
May 10, 2019·International Journal of Laboratory Hematology·Jennifer L Oliveira
May 17, 2017·Frontiers in Endocrinology·Ping-Hung ChenLily Jun-shen Huang
Sep 29, 2020·F1000Research·Senthil Velan BhoopalanMitchell J Weiss

Related Concepts

Signal Transduction
Receptor Down-Regulation
Erythropoietin Receptor
Congenital Abnormality

Related Feeds

Allergy and Asthma

Allergy and asthma are inflammatory disorders that are triggered by the activation of an allergen-specific regulatory t cell. These t cells become activated when allergens are recognized by allergen-presenting cells. Here is the latest research on allergy and asthma.