Wiskott Aldrich Sendromu

Year 2009, Volume: 7 Issue: 1, 119 - 123, 01.06.2009

Şenay Yapıcı Sara Şebnem Kılıç

Abstract

Wiskott Aldrich Sendromu WAS X’e bağlı resesif geçen, mikrotrombositopeni, egzema, sekonder piyojenik enfeksiyonlar, otoimmün hastalıklar ve lenforetiküler neoplazi riskinin arttığı iyi tanımlanmış immun yetmezlik sendromudur. WAS ve X’e bağlı geçiş gösteren trombositopeniden sorumlu gen WASPgenidir. WASP mutasyonlarının tipine göre hastalığın ağırlığı değişmektedir.WAS’lı olgularda kök hücre transplantasyonu veya gen tedavisi kür sağlayantek tedavi yöntemidir. Sekonder enfeksiyonlara karşı profilaktik antimikrobiyal tedavinin gelişmesi ve profilaktik IVIG tedavisi beklenen yaşam süresiniuzatmaktadır

Keywords

Wiskott Aldrich Sendromu, trombositopeni, immün yetmezlik

Wiskott Aldrich Syndrome

Abstract

The Wiskott Aldrich Syndrome WAS is a well defined X-linked recessive disorder associated with microplatelet thrombocytopeniae, eczema, secondary pyogenic infections, and an increased risk of autoimmunity andlymphoreticular neoplasia. The responsible mutations that are associated withWAS and X-linked thrombocytopeniae are mutations in the WAS protein. Severity of the disease varies with types of WASP mutations. Hematopoieticstem cell transplantations or gene therapy is the only curative therapy for WASpatients. Improved profilactic antimicrobial therapy againts secondary infectionsand prophylactic use of IVIG have markedly prolonged the life expectancy ofWAS patients

Keywords

Wiskott Aldrich Syndrome, thrombocytopeniae, immunodeficiency

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