C-12Neurocognitive Profile of a Female with Wiskott-Aldrich Syndrome
نویسندگان
چکیده
منابع مشابه
Wiskott-Aldrich syndrome in a female.
Wiskott-Aldrich syndrome (WAS) is an X-linked disease characterized by thrombocytopenia, eczema, and various degrees of immune deficiency. Carriers of mutated WASP have nonrandom X chromosome inactivation in their blood cells and are disease-free. We report data on a 14-month-old girl with a history of WAS in her family who presented with thrombocytopenia, small platelets, and immunologic dysfu...
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 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 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 کاملAtypical Wiskott-Aldrich syndrome in a girl.
Wiskott-Aldrich syndrome (WAS) is a fully penetrant X-linked recessive disorder characterized by thrombocytopenia with small platelets, eczema, and defects of both T-cell and B-cell immunity. Obligate carriers of this disorder show no signs of the gene defect because in the cell lineages primarily affected by the disorder they demonstrate preferential use of the normal, nonmutant X as the activ...
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ژورنال
عنوان ژورنال: Archives of Clinical Neuropsychology
سال: 2016
ISSN: 0887-6177,1873-5843
DOI: 10.1093/arclin/acw043.161