Wiskott-Aldrich 증후군 환아의 증례보고

Abstract

The Wiskott-Aldrich Syndrome (WAS) is an inherited immunodeficiency caused by a variety of mutations in the gene encoding the WAS protein (WASp). First described in 1937 by Wiskott, the incidence of WAS has so far been estimated at 4 in 106 live births. The Wiskott-Aldrich Syndrome is an X-linked condition characterized by 1) an increased tendency to bleed caused by a reduced number of platelets, 2) recurrent bacterial, viral and fungal infections, and 3) eczema of the skin. The purpose of this report is to present cases highlighting the clinical features of the syndrome and the required considerations in the treatment of patients. The report consists of two particular cases: a 2-year-11-month-old boy seen for a routine oral examination prior to his bone marrow transplantation and a 2-year-6-month-old boy with herpes gingivostomatitis and teeth discoloration.