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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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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. Ornithine transcarbamylase deficiency Oculocerebrorenal syndrome Dyslipidemia: Alfred Wiskott —a German pediatrician who first noticed the syndrome in Studies of correcting Wiskott—Aldrich syndrome with gene therapy using a lentivirus have begun.

WAS usually manifests in infancy but onset may also occur during the neonatal period. 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. April Learn how and when to remove this template message.

For all other comments, please emfermedad your remarks via contact us. Health care resources for this disease Expert centres Diagnostic tests 65 Patient organisations 43 Orphan drug s 4. Journal of Leukocyte Biology. Spontaneous nose bleeds and bloody diarrhea are also common and eczema typically develops within the first month of life. Keratinopathy keratosiskeratodermahyperkeratosis: Genetic counseling WAS is an X-linked recessive disease.


No geographical factor is present.

Diagnostic methods Diagnosis is based on family history, physical examination and laboratory investigations that reveal severe thrombocytopenia with reduced platelet size aldrlch a usually normal number of megakaryocytes, as well as altered antibody production mainly antipolysaccharidic antibodies. D ICD – As WAS is primarily a disorder of the blood-forming tissues, a hematopoietic stem cell transplant, accomplished through a umbilical cord blood or bone marrow transplant offers the only current hope of cure.

Due to combined immunodeficiency, most patients also have airway, gut or skin infections caused by regular or opportunistic germs. Long QT syndrome 4 Hereditary spherocytosis 1.

The majority of children with WAS develop at least one autoimmune disorderand cancers mainly lymphoma and leukemia develop in up to a third of patients. Haemophilia A Aldrihc B X-linked sideroblastic anemia.

Wiskott–Aldrich syndrome

Professionals Summary information Greekpdf Polskipdf Russianpdf Clinical practice guidelines Deutsch Clinical genetics review English The rare disorder X-linked neutropenia has also been linked to a specific subset of WAS mutations. Antenatal diagnosis Prenatal diagnosis is feasible in male fetuses when the causal mutation in the family is known.

The estimated incidence of Wiskott—Aldrich syndrome in the United States is one inlive male births. Long QT syndrome 4. 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.


The documents contained in this web site are presented for information purposes only. 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.

Allergy, Asthma, and Clinical Immunology. Alport syndrome Dent’s disease X-linked nephrogenic diabetes insipidus. Specialised Social Services Eurordis directory.

Typically, IgM levels are low, IgA levels are elevated, and IgE levels may be elevated; paraproteins are occasionally observed. Striate palmoplantar keratoderma 2 Carvajal syndrome Arrhythmogenic right ventricular aldruch 8 plectin: Not all patients have a positive family history of the disorder; new mutations do occur. Clinical description WAS usually manifests in infancy but onset may also occur during the neonatal period.

Orphanet: Síndrome de Wiskott Aldrich

The disease almost exclusively affects males. Retrieved from ” https: Freckles lentigo melasma nevus melanoma. Differential diagnosis Main differential diagnosis is acute or chronic idiopathic thrombocytopenia ITP or platelet alloimmunization in neonates.

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Often, leukemia may be suspected on the basis of low platelets and alddich, and bone marrow biopsy may be performed. Aspirin and other nonsteroidal anti-inflammatory drugs should be avoided, since these may interfere with platelet function which is already compromised.

Spinocerebellar ataxia 5 Hereditary spherocytosis 2, 3 Hereditary elliptocytosis 2, 3 Ankyrin: