How I manage patients with Wiskott Aldrich syndrome

Summary Wiskott Aldrich syndrome (WAS) is a primary immunodeficiency disease resulting in recurrent infections, eczema and microthrombocytopaenia. In its classical form, significant combined immune deficiency, autoimmune complications and risk of haematological malignancy necessitate early correctio...

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Bibliographic Details
Published in:British journal of haematology 2019-05, Vol.185 (4), p.647-655
Main Authors: Rivers, Elizabeth, Worth, Austen, Thrasher, Adrian J., Burns, Siobhan O.
Format: Article
Language:English
Subjects:
Autoimmune Diseases - etiology
Complications
Conservative Treatment - methods
Eczema
Eczema - etiology
Female
Gene therapy
Genetic Techniques
Genetic Therapy - methods
haematopoietic stem cell transplant
Hematology
Hematopoietic Stem Cell Transplantation - methods
Heterozygote
Humans
Immunodeficiency
Infection Control - methods
Male
Malignancy
Mutation - genetics
Primary immunodeficiencies
Risk Factors
Skin diseases
Stem cell transplantation
Thrombocytopenia
Thrombocytopenia - etiology
Thrombocytopenia - therapy
Transplantation
Wiskott Aldrich syndrome
Wiskott-Aldrich Syndrome - diagnosis
Wiskott-Aldrich Syndrome - genetics
Wiskott-Aldrich Syndrome - therapy
X‐linked thrombocytopenia
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Summary:Summary Wiskott Aldrich syndrome (WAS) is a primary immunodeficiency disease resulting in recurrent infections, eczema and microthrombocytopaenia. In its classical form, significant combined immune deficiency, autoimmune complications and risk of haematological malignancy necessitate early correction with stem cell transplantation or gene therapy. A milder form, X‐linked thrombocytopaenia (XLT), shares similar bleeding risk from thrombocytopaenia but is not associated with other significant clinical features and is generally managed conservatively. Here, we detail our approach to the diagnosis and treatment of classical WAS and XLT.
ISSN:0007-1048
1365-2141
DOI:10.1111/bjh.15831