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Wiskott–Aldrich Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Subsequent studies indicate that WAS comprises a broad spectrum of hematopoietic diseases, ranging from a milder X-linked thrombocytopenia (XLT, which shows milder eczema and immune dysfunction and better overall survival than WAS), to a more severe X-linked congenital neutropenia (X-linked neutropenia [XLN], which is also called X-linked severe congenital neutropenia [SCNX]) (see Chapter 77 for further details) [1].
Mucosal manifestations of immunodeficiencies
Published in Phillip D. Smith, Richard S. Blumberg, Thomas T. MacDonald, Principles of Mucosal Immunology, 2020
Scott Snapper, Jodie Ouahed, Luigi D. Notarangelo
Wiskott-Aldrich syndrome (WAS) is an X-linked disorder characterized by eczema, congenital thrombocytopenia with small-sized platelets, and immune deficiency. The responsible gene, named WAS, maps at Xp11.2 and encodes for a protein involved in cytoskeleton reorganization in hematopoietic cells. Most patients with classical WAS have mutations that impair expression and/or function of Wiskott-Aldrich syndrome protein (WASp). However, some missense mutations are associated with a milder phenotype (isolated X-linked thrombocytopenia).
Immunology (primary Immunodeficiency Syndromes
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Stephan Strobel, Alison M. Jones
Affected male infants usually present with bruising and bleeding and severe eczema, in combination with recurrent upper and lower respiratory tract infections including otitis media (Fig. 16.10). A clinical variant, termed ‘X-linked thrombocytopenia’ (XLT) represents a milder form, also caused by mutations in the WASP gene. There is a positive family history with a typical ‘X-linked pedigree’ in only approximately 30% of cases.
Clinical, Laboratory Features and Clinical Courses of Patients with Wiskott Aldrich Syndrome and X–linked Thrombocytopenia–A single center study
Published in Immunological Investigations, 2022
Hacer Neslihan Bildik, Deniz Cagdas, Aysenur Ozturk Kura, Sevil Oskay Halacli, Ozden Sanal, Ilhan Tezcan
Wiskott Aldrich syndrome (WAS) is an X-linked primary immunodeficiency disorder caused by mutations in the Wiskott Aldrich syndrome protein (WASp) gene, which is located on the short arm of the X chromosome (Xp11.22–p11.23) (Aldrich et al. 1954; Wiskott 1937). The classic form of WAS is characterized by microthrombocytopenia, severe immunodeficiency, and eczema (Aldrich et al. 1954; Orange et al. 2004; Sullivan et al. 1994; Wiskott 1937). Mutations result in decreased but not absent protein expression cause a milder presentation called X-linked thrombocytopenia (XLT) that is associated with thrombocytopenia and rarely with milder eczema and immunodeficiency (Ochs and Rosen 1999; Ochs et al. 1980). Additionally, activating mutation of the WASp gene on the GTPase-binding domain is defined as X-linked neutropenia (XLN), characterized by neutropenia and variable myelodysplasia.
Hematopoietic cell transplantation in primary immunodeficiency – conventional and emerging indications
Published in Expert Review of Clinical Immunology, 2018
Mary A. Slatter, Andrew R. Gennery
The improving results in HSCT for classical Wiskott–Aldrich syndrome have led to the development of HSCT for a milder phenotype, X-linked thrombocytopenia. Whilst HSCT at an early age is the treatment of choice for patients with classical Wiskott–Aldrich syndrome, treatment choices for patients with X-linked thrombocytopenia are less clear. A large retrospective survey of 173 patients older than 2 years with X-linked thrombocytopenia, characterized by mild-to-moderate eczema or mild, infrequent infections, examined the probability of severe disease-related complications. Significant hemorrhagic episodes, life-threatening infections, autoimmunity and malignancy occurred in 13.9, 6.9, 12.1, and 5.2% of patients, respectively, demonstrating the non-benign nature of the disease and poor event-free survival [69]. A recent retrospective survey of 24 patients with X-linked thrombocytopenia who received HSCT following myelo-ablative conditioning, demonstrated a 100% engraftment rate with overall survival of 83.3% and resolution of pretransplant complications. The four deaths were associated with sepsis related to splenectomy prior to HSCT and severe GVHD-associated aspergillus infections [70].
Report of clinical presentations and two novel mutations in patients with Wiskott-Aldrich syndrome/X-linked Thrombocytopenia
Published in Platelets, 2022
Natsumon Udomkittivorakul, Duangrurdee Wattanasirichaigoon, Wiparat Manuyakorn, Pongpak Pongphitcha, Arthaporn Khongkraparn, Padcha Tunlayadechanont, Nongnuch Sirachainan
Wiskott-Aldrich syndrome (WAS), a rare X-linked disease, is caused by mutation of WAS gene. It is characterized by thrombocytopenia, eczema, and recurrent infections [1,2]. There are 3 clinical phenotypes associated with WAS mutations: classic WAS, X-linked thrombocytopenia (XLT), and X-linked neutropenia [2,3]. Mutations resulting in the absence of WAS protein (WASp) cause classic WAS, while decreasing WASp causes XLT. Compared with class WAS, XLT is a milder form characterized by thrombocytopenia with mild eczema, infection, and immunodeficiency [1,4–6]. In addition, patients with WAS/XLT have an increased incidence of autoimmune diseases and malignancies. Currently, hematopoietic stem cell transplantation (HSCT) is the curative treatment for WAS [1,7].