Wiskott Aldrich syndrome (WAS) is a disease with immunological deficiency and reduced ability to form blood clots. Signs and symptoms include easy bruising. Wiskott Aldrich syndrome (WAS) is inherited in an X-linked recessive manner. A condition is X-linked if the responsible gene is located on the X chromosome. My husband’s grandmother had three children. Two of her sons with Wiskott Aldrich syndrome (WAS) died at ages 7 and 3. My husband’s father did not have it.
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Only comments seeking to improve the quality and accuracy wisiott information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Wiskott-Aldrich syndrome WAS is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies. The incidence of WAS has been estimated at less than 1 inlive births.
The disease almost exclusively affects males. WAS usually manifests enfermrdad infancy but onset may also occur during the neonatal period. In most cases the first clinical features are hemorrhagic manifestations with petechiae, bruising, purpura, epistaxis, oral bleeding, bloody diarrhea and intracranial bleeding.
Acute or chronic eczema is the second characteristic finding of WAS. Due to combined immunodeficiency, most patients also have airway, gut or skin infections caused by regular or opportunistic germs. WAS patients have a higher risk of developing tumors mainly B-cell lymphomas at any age.
Usually, hypomorphic mutations in the WAS gene can lead to an attenuated form of WAS called X-linked thrombocytopenia with normal platelets XLTT; see this termthat is characterized by mild to moderate thrombocytopenia and eczema and wkskott lower risk of autoimmunity and malignancy, but usually showing no immunodeficiency.
Diagnosis is based on family history, physical examination and laboratory investigations that reveal severe thrombocytopenia with reduced platelet size with a usually normal number of megakaryocytes, as well as altered antibody production mainly antipolysaccharidic antibodies.
Absent or decreased WAS protein levels and genetic testing confirm the diagnosis. Main differential diagnosis is acute or chronic enfermedaf thrombocytopenia ITP or platelet alloimmunization in neonates. WAS is an X-linked recessive disease. Some de novo mutations might also occur.
The only curative treatment to date is hematopoietic stem cell transplantation HSCTperformed as soon as possible with the best matched HLA donor.
Orphanet: SÃndrome de Wiskott Aldrich
Gene therapy, still experimental to date, may be a promising approach for patients lacking a suitable donor. Immunoglobulin replacement therapy and oral antibiotics prevent infections. Severe eczema requires treatment with topical or short-term systemic steroids.
Treatments that could weaken the immune system steroids, splenectomy, immunosuppressive agents should be used with the highest caution by trained medical staff.
Agonists of the thrombopoietin receptors such as romiplostim and eltrombopag can be used to increase the platelet count in severe refractory thrombocytopenia cases that are awaiting HSCT or gene therapy. Other search option s Alphabetical list.
Summary and related texts. Check this box if you wish to receive a copy of your message. Disease definition Wiskott-Aldrich syndrome WAS is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.
Eczema-thrombocytopenia-immunodeficiency syndrome WAS Prevalence: InfancyNeonatal ICD Clinical description WAS usually manifests in infancy but onset may also occur during the neonatal period. Diagnostic methods Diagnosis is based on family history, physical examination and laboratory investigations that reveal severe thrombocytopenia with reduced platelet size with a usually aldrcih number of megakaryocytes, as well as altered antibody production mainly antipolysaccharidic antibodies.
Differential diagnosis Main differential diagnosis is acute or chronic idiopathic thrombocytopenia ITP wisktot platelet alloimmunization in neonates.
Wiskott–Aldrich syndrome – Wikipedia
Antenatal diagnosis Prenatal diagnosis is feasible in male fetuses when the causal mutation in the family is known. Genetic counseling WAS is an X-linked recessive disease. Management and treatment The only curative treatment to date is hematopoietic stem cell woskott HSCTperformed as soon as possible with the best matched HLA donor.
Professionals Summary information Greekpdf Polskipdf Russianpdf Clinical practice guidelines Deutsch Clinical genetics review English Additional information Further information on this disease Classification s 5 Gene s 2 Disability Clinical signs and symptoms Publications in PubMed Other website s Health care resources for this disease Expert centres Diagnostic tests 65 Patient organisations 43 Orphan drug s 4. Specialised Social Services Eurordis directory.
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