Wiskott-Aldrich Syndrome: Diagnosis, Clinical and Laboratory Manifestations, and Treatment
نویسندگان
چکیده
منابع مشابه
Wiskott–Aldrich syndrome: diagnosis, current management, and emerging treatments
Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency disorder characterized by the triad of eczema, thrombocytopenia, and severe and often recurrent infections. Despite the rarity of this disorder, our understanding of the molecular and cellular pathogenesis of WAS has continued to increase. Advances in the use of diagnostic tools, the provision of supportive care, and imp...
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 کاملMolecular diagnosis of Wiskott-Aldrich syndrome in Taiwan.
The spectrum of Wiskott-Aldrich syndrome (WAS) mutation in Han Chinese residing in Taiwan has not been previously reported. We describe a multidisciplinary approach to the molecular diagnosis of WAS which could be applied to clinical diagnosis, carrier prediction, and prenatal diagnosis. A total of 6 male patients, from 6 independent families, were referred for the molecular diagnosis of WAS. T...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Biology of Blood and Marrow Transplantation
سال: 2009
ISSN: 1083-8791
DOI: 10.1016/j.bbmt.2008.10.007