PERINATOLOGIYA I PEDIATRIYA.2015.3(63):66-70; doi 10.15574/PP.2015.63.66 
 

Diagnostic algorithm and medical support of patients with Wiskott—Aldrich syndrome 
 

Kostyuchenko L. V.

West Ukrainian specialized children's medical сenter, Lviv 
 

Wiskott—Aldrich syndrome (WAS) is a X-linked primary immunodeficiency characterized by multiple defects in hematopoietic cells. Severity of clinical manifestations in such patients correlates with types of mutations, degree of WAS-protein expression in the blood cells and determines the choice of therapy. The article contains the results of long-term follow-up after children with WAS. Molecular-genetic confirmation of the diagnosis was obtained in all of the cases, at that two new types of WAS-gene mutations found in 4 of the families. In four patients the phenomenon of natural chimerizm of WAS protein was detected, which is due to the presence of reverse mutations of WAS-gene. One of the patients died from complications after stem cell transplantation. The others receive conservative treatment. Currently available diagnostic and therapeutic options for WAS patients in Ukraine do not meet the international standards. 
 

Key words: Wiskott—Aldrich syndrome, primary immunodeficiency, children, stem cell transplantation, gene therapy. 
 

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