Clinical Manifestations and Pathophysiological Mechanisms of the Wiskott-Aldrich Syndrome.

Details

Serval ID
serval:BIB_00549880C4AB
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Clinical Manifestations and Pathophysiological Mechanisms of the Wiskott-Aldrich Syndrome.
Journal
Journal of clinical immunology
Author(s)
Candotti F.
ISSN
1573-2592 (Electronic)
ISSN-L
0271-9142
Publication state
Published
Issued date
01/2018
Peer-reviewed
Oui
Volume
38
Number
1
Pages
13-27
Language
english
Notes
Publication types: Journal Article ; Review
Publication Status: ppublish
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.
Keywords
Autoimmunity, Eczema, Genes, X-Linked/genetics, Genetic Therapy, Hematopoietic Stem Cell Transplantation, Humans, Infection, Mutation/genetics, Neoplasms, Thrombocytopenia, Wiskott-Aldrich Syndrome/genetics, Wiskott-Aldrich Syndrome/physiopathology, Wiskott-Aldrich Syndrome/therapy, Wiskott-Aldrich Syndrome Protein/genetics, X-chromosome, atopy, autoimmunity, immunodeficiency
Pubmed
Web of science
Create date
01/11/2017 10:29
Last modification date
20/08/2019 12:22
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