[Wiskott-Aldrich syndrome].
The Wiskott-Aldrich syndrome is a rare X-linked recessive immunodeficiency disorder characterized by thrombocytopenia and small-sized platelets, eczema and recurrent infections. This paper describes molecular pathology, diagnostics and therapy of the syndrome.
Gulácsy
Vera
V
Debreceni Egyetem, Orvos- és Egészségtudományi Centrum, Infektológiai és Gyermekimmunológiai Tanszék Debrecen. gulacsy.vera@ipmedia.hu
Maródi
László
L
D015551:Autoimmunity; D003937:Diagnosis, Differential; D004485:Eczema / Q000209:etiology; D006801:Humans; D013921:Thrombocytopenia / Q000209:etiology; D014923:Wiskott-Aldrich Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000276:immunology / Q000628:therapy; D051316:Wiskott-Aldrich Syndrome Protein / Q000235:genetics / Q000378:metabolism*
D051316:Wiskott-Aldrich Syndrome Protein