Clinical Manifestations and Pathophysiological Mechanisms of the Wiskott-Aldrich Syndrome

Journal of Clinical Immunology
Fabio Candotti

Abstract

The Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder originally described by Dr. Alfred Wiskott in 1937 and Dr. Robert Aldrich in 1954 as a familial disease characterized by infections, bleeding tendency, and eczema. Today, it is well recognized that the syndrome has a wide clinical spectrum ranging from mild, isolated thrombocytopenia to full-blown presentation that can be complicated by life-threatening hemorrhages, immunodeficiency, atopy, autoimmunity, and cancer. The pathophysiology of classic and emerging features is being elucidated by clinical studies, but remains incompletely defined, which hinders the application of targeted therapies. At the same time, progress of hematopoietic stem cell transplantation and gene therapy offer optimistic prospects for treatment options aimed at the replacement of the defective lymphohematopoietic system that have the potential to provide a cure for this rare and polymorphic disease.

References

Apr 27, 1978·The New England Journal of Medicine·R ParkmanF S Rosen
Sep 1, 1992·The Journal of Experimental Medicine·I J MolinaE Remold-O'Donnell
Jan 1, 1985·Cancer Investigation·J D CotelingamE S Jaffe
Oct 27, 1972·Annals of the New York Academy of Sciences·M G Baldini
Oct 1, 1969·British Journal of Haematology·K A GröttumM Seip
Jul 1, 1980·The Journal of Pediatrics·G S PerryJ H Kersey
Dec 1, 1994·The Journal of Pediatrics·K E SullivanJ A Winkelstein
Nov 1, 1996·Archives of Disease in Childhood·J LitzmanG Morgan
Jul 23, 1998·British Journal of Haematology·D ZichaA J Thrasher
Aug 18, 1999·Proceedings of the National Academy of Sciences of the United States of America·S LinderM Aepfelbacher
Apr 6, 2001·The Journal of Immunology : Official Journal of the American Association of Immunologists·T ArigaY Sakiyama
Jul 12, 2001·Proceedings of the National Academy of Sciences of the United States of America·T WadaF Candotti
Mar 6, 2002·Blood·Lucia D NotarangeloLuigi D Notarangelo
Aug 15, 2002·Proceedings of the National Academy of Sciences of the United States of America·Jordan S OrangeJack L Strominger
Apr 30, 2003·British Journal of Haematology·Anna ShcherbinaEileen Remold-O'Donnell
Jun 24, 2003·Current Opinion in Rheumatology·Shepherd H Schurman, Fabio Candotti
Sep 13, 2003·Blood·Kohsuke ImaiShigeaki Nonoyama
Mar 20, 2004·Clinical and Experimental Immunology·J Y ParkE Remold-O'Donnell
Oct 29, 2004·Molecular Therapy : the Journal of the American Society of Gene Therapy·Loïc DupréMaria-Grazia Roncarolo
Jan 19, 2005·Clinical and Experimental Immunology·J Y ParkE Remold-O'Donnell
Jun 30, 2005·Blood·Maxim I LutskiyEileen Remold-O'Donnell
Apr 8, 2006·European Journal of Pediatrics·Capucine PicardMohamed Bejaoui
Aug 15, 2006·Immunological Reviews·Clare Baecher-Allan, David A Hafler
Nov 4, 2006·The Journal of Immunology : Official Journal of the American Association of Immunologists·Sara TrifariLoïc Dupré
Feb 14, 2007·The Journal of Experimental Medicine·Francesco MarangoniLoïc Dupré
May 15, 2007·British Journal of Haematology·J J KimC M Cale
May 22, 2007·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Marsilio AdrianiPamela L Schwartzberg

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Citations

Feb 1, 2019·Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology·Hagen Ott
Feb 20, 2019·Immunology and Cell Biology·Stuart G TangyeIsabelle Meyts
May 14, 2018·Clinical Reviews in Allergy & Immunology·Stella HartonoNicholas L Rider
Jul 18, 2019·Rheumatology International·Francisco Rivas-LarrauriMarco Antonio Yamazaki-Nakashimada
Oct 4, 2019·Pediatric Research·Sevgi Köstel BalSeza Özen
Oct 16, 2019·Journal of Clinical Immunology·Jean-Laurent Casanova, Vincent Bonagura
Jan 25, 2020·Current Opinion in Rheumatology·Rodrigo Hoyos-Bachiloglu, Janet Chou
Jan 15, 2020·Human Genetics·Alessandro BorghesiJacques Fellay
Apr 7, 2020·Nature Reviews. Cancer·Danilo FioreGiorgio Inghirami
Feb 23, 2020·Journal of Clinical Medicine·Carlo Zaninetti, Andreas Greinacher
Oct 24, 2018·Research and Practice in Thrombosis and Haemostasis·Marlie H Fisher, Jorge Di Paola
Aug 24, 2019·Frontiers in Pediatrics·Riccardo CastagnoliLuigi Daniele Notarangelo
Nov 22, 2019·Frontiers in Pediatrics·Michael H Albert, Alexandra F Freeman
Sep 18, 2020·Global Medical Genetics·Darja Kanduc, Yehuda Shoenfeld
Mar 13, 2019·Nature Reviews. Drug Discovery·Marina CavazzanaEmmanuelle Six
Feb 19, 2020·Human Genetics·Conor Gruber, Dusan Bogunovic
Jul 30, 2020·JCI Insight·Giulia Maria PipernoFederica Benvenuti
Jun 17, 2020·The Journal of Cell Biology·Helen Weavers, Paul Martin
Aug 28, 2020·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Marcus Fager FerrariEva Zetterberg
Oct 10, 2020·Journal of Clinical Immunology·Maiko InoueTomohiro Morio
Oct 21, 2020·Expert Opinion on Biological Therapy·Kritika Chetty, Claire Booth
Nov 26, 2020·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Juanjuan ZhouQingjian Zou
Dec 18, 2020·Frontiers in Immunology·Sabina CenciarelliFrancesca Ferrua
Feb 4, 2021·Seminars in Immunopathology·Rosa Bacchetta, Kenneth Weinberg
Nov 23, 2020·Molecular Therapy : the Journal of the American Society of Gene Therapy·Francesca TucciAlessandra Mortellaro
Nov 25, 2020·Pediatric Clinics of North America·Susan E Pacheco, James M Stark
Feb 13, 2021·International Journal of Molecular Sciences·Riccardo CastagnoliLuigi Daniele Notarangelo
Mar 6, 2021·Current Allergy and Asthma Reports·Elizabeth M Kang
Feb 23, 2021·British Journal of Haematology·Amy M Trottier, Lucy A Godley
Mar 5, 2021·Journal of Clinical Immunology·Tingyan HeJun Yang
Mar 19, 2021·Pediatric Research·Yuying LiuJon Marc Rhoads
Mar 16, 2021·The World Allergy Organization Journal·Riccardo CastagnoliUNKNOWN Immunology Task Force of the Italian Society of Pediatric Allergy and Immunology (SIAIP)
Feb 21, 2021·The Journal of Allergy and Clinical Immunology·Nadezhda Camacho-OrdonezBodo Grimbacher
Nov 2, 2020·British Journal of Haematology·Anna KhorevaAnna Shcherbina
May 1, 2021·Biology·Alessandra TiriAndrea Pession
May 1, 2021·Frontiers in Cell and Developmental Biology·Madison Bolger-MunroMichael R Gold
May 1, 2021·International Journal of Molecular Sciences·Verónica Palma-BarquerosJosé Rivera
Feb 24, 2019·The Journal of Allergy and Clinical Immunology·Morgane CheminantFelipe Suarez
May 28, 2021·Genes, Chromosomes & Cancer·Selene C KooCatherine E Cottrell
Jun 5, 2021·Frontiers in Immunology·Roberto AmadioFederica Benvenuti
Aug 15, 2021·Hämostaseologie·Carlo ZaninettiAndreas Greinacher
Nov 11, 2021·Scandinavian Journal of Immunology·Jiali JiangHongying Wei

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Methods Mentioned

BETA
flow cytometry
glycosylation
GTPase

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