\n
\n港大醫學院內科學系風濕及臨床免疫學科主任李曦表示,全球約有500種原發性免疫缺陷病,估計整體發病率為萬分一,單是瑪麗醫院就有百多名病人,目前「STAT1功能增益」症患者全港有5至6人。他表示,患者較易受細菌感染,難以抵禦癌症等,患者因經常患病而要服藥,難以採集樣本和干擾化驗結果,醫學界對罕見疾病的研究亦不足,因此目前未有針對性療法,希望透過新療法令患者得到個人化治療,減低試藥風險。
\n
\n有29歲患者表示,由於家族遺傳,3、4歲開始患上罕有的免疫缺陷疾病,但到十多歲才確診,當時器官已受損,容易生病,曾有口腔念珠菌感染、皮膚潰爛,20多歲中風,視力系統受攻擊、一度接近失明,直至約一年前接受個人化幹細胞治療,情況已有好轉,可以正常生活。他表示,治療暫時未有任何副作用,但難以負擔高昂藥費,希望社會能增加對罕見病的關注和資源。
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