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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Diagnostic methods Diagnosis is based on family history, physical examination and laboratory investigations that reveal severe thrombocytopenia with reduced platelet size with enfermedsd usually normal number of megakaryocytes, as well as altered antibody production mainly antipolysaccharidic antibodies.

In most cases the first clinical features are hemorrhagic manifestations with petechiae, bruising, purpura, epistaxis, oral bleeding, bloody diarrhea and intracranial bleeding. Severe eczema requires treatment with topical or short-term systemic steroids. Gene therapy, still experimental to date, may be a promising approach for patients lacking a suitable donor.

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. Purine nucleoside phosphorylase deficiency Hyper IgM syndrome 1. Decreased levels of WASp are typically observed.


Wiskott–Aldrich syndrome

This page was last edited on 14 Novemberat Additional information Further information on this disease Classification s 5 Gene s 2 Disability Clinical signs and symptoms Publications in Aldrivh Other website s WAS patients have increased susceptibility to infections, particularly of the ears and sinuses, and this immune deficiency has been linked to decreased antibody production and the inability of immune T aldirch to effectively combat infection.

Lymphoid and complement immunodeficiency D80—D85 Keratinopathy keratosiskeratodermahyperkeratosis: Specialised Social Services Eurordis directory. Long QT syndrome 4. Recurrent bacterial infections develop by three months. The disease almost exclusively affects males.

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Only comments written in English can be processed. The rare disorder X-linked neutropenia has also been linked to a specific subset of WAS mutations. WAS patients have a higher risk of developing tumors mainly B-cell lymphomas at any age.

Orphanet: Síndrome de Wiskott Aldrich

Primary ciliary dyskinesia Short rib-polydactyly syndrome 3 Asphyxiating thoracic dysplasia 3. April Learn how and when to remove this template message. X-linked agammaglobulinemia Transient hypogammaglobulinemia of infancy. Hypertrophic cardiomyopathy 7, enfeemedad Nemaline myopathy 4, 5.

Wikipedia articles needing page number citations from July Articles needing additional references from April All articles needing additional references Infobox medical condition new. Health care resources for this disease Expert centres Diagnostic tests 65 Patient organisations 43 Orphan drug s 4.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.

Treatment of Wiskott—Aldrich syndrome is currently based on correcting symptoms. This may be recommended for patients with HLA -identical donors, matched sibling donors, or even in cases of incomplete matches if the patient is age 5 or under. Robert Anderson Aldrich —an American pediatrician who described the disease in a family of Dutch-Americans in[2] and Dr.

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 a lower risk of autoimmunity and malignancy, but usually showing no immunodeficiency.

Wiskott–Aldrich syndrome – Wikipedia

Hypertrophic cardiomyopathy aldricn Nemaline myopathy 1. Due to combined immunodeficiency, most patients also have airway, gut or skin infections caused by regular or opportunistic germs.

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

Some de novo mutations might also occur.