2009
DOI: 10.1182/blood-2008-12-115253
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Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome

Abstract: IntroductionWiskott-Aldrich syndrome (WAS, OMIM 301000) is a complex and severe X-linked disorder characterized by microthrombocytopenia, eczema, immunodeficiency, and increased risk in developing autoimmunity and lymphomas. WAS affects 1 to 10 of every 1 million male newborns; life expectancy is approximately 15 years for patients lacking WAS protein (WASP) expression. 1,2 The protein encoded by the WAS gene (WASP) is a hematopoietic specific regulator of actin nucleation in response to signals arising at the… Show more

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Cited by 213 publications
(221 citation statements)
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“…eczema and are at increased risk to develop autoimmunity and tumors Bosticardo et al, 2009). To date, at least 150 loss-of-function mutations in the gene encoding WASP have been identified in WAS patients (Thrasher and Burns, 2010).…”
Section: Br Ief Definitive Repor Tmentioning
confidence: 99%
“…eczema and are at increased risk to develop autoimmunity and tumors Bosticardo et al, 2009). To date, at least 150 loss-of-function mutations in the gene encoding WASP have been identified in WAS patients (Thrasher and Burns, 2010).…”
Section: Br Ief Definitive Repor Tmentioning
confidence: 99%
“…This mutation had previously been described as causing X-linked thrombocytopenia [1]. This patient had a score of 5 in the WAS scoring system [2] (autoimmune hemolytic anemia and idiopathic thrombocytopenic purpura), contradicting the classical benignity attributed to XLT (scores 2 and 3) [3].…”
mentioning
confidence: 74%
“…The main manifestation of GVHD is the immune attack to multiple organs, with the gastrointestinal tract, lungs, liver, and skin being the preferential targets. 2 Although not usually described with the classic symptoms, marrow suppression with compromised hematopoiesis and poor immune reconstitution has long been appreciated in clinical GVHD. The cause of this phenomenon has not been carefully studied and up until now, it was not known whether this was the product of destruction of hematopoietic progenitors or an indirect effect of damage to the bone marrow microenvironment.…”
Section: • • • Transplantationmentioning
confidence: 99%
“…1,2 The spectrum of cell lineages now known to be affected includes not only T and B lymphocytes and platelets, as initially appreciated, but also natural killer (NK) and NKT cells, macrophages and dendritic cells, and to a lesser extent, neutrophils. The affected gene product WAS protein (WASP) is exclusive to hematopoietic cells.…”
mentioning
confidence: 99%