[Wiskott-Aldrich syndrome in a hetrozygous woman].
The authors report a case of a 20-year old woman, with all the characteristics of the Wiskott-Aldrich-syndrome. The main signs of the disease were recurrent infections, eczema, thrombocytopenia and mild mucosal bleeding. The size of platelets was reduced. Storage pool disease was based on the abnormal platelet aggregation and the lack of dense bodies shown by electronmicroscopic examination. The disturbances of the lymphocytes, neutrophils and monocytes, which resulted in immunodeficiency, could be proven by the immunological tests. This X-linked recessive disorder appeared with typical signs in a heterozygous carrier woman. According to our knowledge, no similar case has been reported before.
Tornai
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I
Kiss
A
A
Laczkó
J
J
Nagy
P M
PM
D000328:Adult; D005260:Female; D006579:Heterozygote; D006801:Humans; D014923:Wiskott-Aldrich Syndrome / Q000175:diagnosis / Q000235:genetics*
Wiskott--Aldrich-syndroma heterozygota hordozó nöbetegben.