Wiskott-Aldrich syndrome: report of an autosomal dominant variant
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چکیده
منابع مشابه
Wiskott-Aldrich syndrome: report of an autosomal dominant variant.
The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder originally described as a clinical triad of thrombocytopenia with small platelets, eczema, and immunodeficiency. Impaired CD43 glycoprotein expression on lymphocytes is a typical hallmark of this disorder. The CD43 gene is located on chromosome 16, and the WAS gene, WASP, was recently isolated from the chromosome X p11.22-p11....
متن کاملLow Serum IgM Possible Female Variant of Wiskott-Aldrich Syndrome
Evans, D. I. K., and Holzel, A. (1970). Archives of Disease in Childhood, 45, 527. Immune deficiency state in a girl with eczema and low serum IgM. Possible female variant of Wiskott-Aldrich syndrome. This report concerns an immune deficiency disorder in a girl with eczema. She has had recurrent infections including three severe attacks of herpes simplex and five attacks of pneumococcal meningi...
متن کامل[The Wiskott-Aldrich syndrome].
can occur, the observed improvement cannot necessarily b)e attributed to the transfer factor. However, in two patients repeated remissions consistently followed transfer factor administration on repeated occasions. This included freedom from infections, regression of splenomegaly, and clearing of eczema. An unexpected finding was a decrease in bleeding in 3 of the 10 patients who had bleeding. ...
متن کاملWiskott-Aldrich syndrome with macrothrombocytopenia.
BACKGROUND Wiskott-Aldrich syndrome is a rare X-linked immunodeficiency disorder with a variable phenotype. CASE CHARACTERISTICS 3.5-year-old boy diagnosed with Wiskott-Aldrich syndrome. OBSERVATION Unusual and persistent thrombocytopenia with increased platelet volume (>10fL). He did not exhibit characteristic clinical and laboratory finding for the syndrome. OUTCOME Maternally inherited...
متن کاملAutoimmune Features of Wiskott-Aldrich Syndrome: A Case Report
Diffuse alveolar hemorrhage in a pediatric patient requires urgent and aggressive therapy. Here we report a young child with Wiskott-Aldrich syndrome and antiplatelet antibody manifesting as recurrent pulmonary hemorrhage due to pauci-immune capillaritis that was successfully treated with rituximab.
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ژورنال
عنوان ژورنال: Blood
سال: 1996
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v87.11.4538.bloodjournal87114538