Sindrom Wiskott-Aldrich (SWA) - Sebuah Rare Disease
DOI:
https://doi.org/10.55175/cdk.v47i7.597Keywords:
Imunodefisiensi primer, penyakit langka, sindrom Wiskott-AldrichAbstract
Sindrom Wiskott-Aldrich (SWA) merupakan kelainan imunodefisiensi primer langka terkait kromosom-X, ditandai dengan trias eksema, trombositopenia, infeksi berat, dan rekuren. Spektrum gangguan ini mulai dari gejala ringan trombositopenia terisolasi hingga presentasi klinis full-blown dengan perdarahan, imunodefisiensi, atopi, autoimunitas, dan keganasan yang mengancam nyawa. Kemajuan transplantasi sel punca hematopoeitik dan terapi gen saat ini memberi harapan untuk mengganti sistem limfohematopoeitik yang mengalami defek.
Wiskott-Aldrich syndrome (WAS) is a rare primary X-linked immunodeficiency disorder characterized by eczema, thrombocytopenia, severe, and recurrent infections. The spectrum of these disorders includes mild symptoms with isolated thrombocytopenia to full-blown life-threatening presentation with bleeding, immunodeficiency, atopy, autoimmunity, and malignancies. Hematopoeitic stem cell transplantation and gene therapy now offers hope to replace the defective lymphohematopoeitic system.
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