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 an X-linked disorder characterized by the clinical triad of microthrombocytopenia, eczema, and recurrent. Request PDF on ResearchGate | Síndrome de Wiskott-Aldrich de un paciente diagnosticado en la infancia con enfermedad de Bruton.

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WAS patients have increased susceptibility to infections, particularly of the ears and sinuses, and this immune wislott has been linked to decreased antibody production and the inability of immune T cells to effectively combat infection.

Please help improve this article by adding citations to reliable sources. No geographical factor is present.

Gestionan tratamiento en Italia de un niño tarijeño con síndrome de Wiskott-Aldrich

Ina German research group analysed family members of Wiskott’s three cases, and surmised they probably shared a novel frameshift mutation of the first exon of the WASp gene. Spinocerebellar ataxia 5 Hereditary spherocytosis 2, 3 Hereditary elliptocytosis 2, 3 Ankyrin: Haemophilia A Haemophilia B X-linked sideroblastic anemia.

Common variable immunodeficiency ICF eenfermedad. Alport syndrome Dent’s disease X-linked nephrogenic diabetes insipidus. Treatment of Wiskott—Aldrich syndrome is currently based on correcting symptoms. For severely low platelet counts, patients may require platelet transfusions or removal of the spleen. The rare disorder X-linked neutropenia has also been linked to a specific subset of WAS mutations. Long QT encermedad 4. Hunter syndrome Purine—pyrimidine metabolism: Decreased levels of WASp are typically observed.


The syndrome is named after Dr.

Tauopathy Cavernous venous malformation. Allergy, Asthma, and Clinical Immunology. Striate palmoplantar keratoderma 2 Carvajal syndrome Arrhythmogenic right ventricular dysplasia 8 plectin: This article needs additional citations for verification.

Wiskott–Aldrich syndrome – Wikipedia

Clinical and Experimental Immunology. Skin fragility syndrome Arrhythmogenic right wisott dysplasia 9 centrosome: Wiskott—Aldrich syndrome WAS dde a rare X-linked recessive disease characterized by eczemathrombocytopenia low platelet countimmune deficiencyand bloody diarrhea secondary to the thrombocytopenia.

Keratinopathy keratosiskeratodermahyperkeratosis: With epidermal involvement Eczematous contact dermatitis atopic dermatitis seborrheic dermatitis stasis dermatitis lichen simplex chronicus Darier’s disease glucagonoma syndrome langerhans cell histiocytosis lichen sclerosus pemphigus foliaceus Wiskott—Aldrich syndrome Zinc deficiency.

Recurrent bacterial infections develop by three months.

This page was last edited on 14 Novemberat D ICD – Color blindness red and green, but not blue Aldrifh albinism 1 Norrie disease Choroideremia Other: Epidermolysis bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex of Ogna plakophilin: The diagnosis is made on the basis of clinical parameters, the peripheral blood smearand low immunoglobulin levels.

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.


Often, leukemia may be suspected on the basis wiskot low platelets and infections, and bone marrow biopsy may be performed. 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.

Studies of correcting Wiskott—Aldrich syndrome with gene therapy using a lentivirus have begun. The New England Journal of Medicine.

Views Read Edit View history. Epidermal wart callus seborrheic keratosis acrochordon molluscum contagiosum actinic keratosis squamous-cell carcinoma basal-cell carcinoma Merkel-cell carcinoma nevus sebaceous trichoepithelioma. Freckles lentigo melasma nevus melanoma. Long QT syndrome 4 Hereditary spherocytosis 1. The estimated incidence of Wiskott—Aldrich syndrome in the United States is one inlive male births.

WAS occurs most often in males due to its X-linked recessive pattern of inheritance, affecting between 1 and 10 males per million.

Wiskott–Aldrich syndrome

Anemia from bleeding may require iron supplementation or blood transfusion. Retrieved from ” https: Purine aldricg phosphorylase deficiency Hyper IgM syndrome 1.

Hypertrophic cardiomyopathy 7, 2 Nemaline myopathy 4, 5.