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- W3033419265 abstract "1例主诉为诊断腺苷脱氨酶2缺乏症8个月,发热、右眼视物模糊并步态不稳2个月的1岁9月龄患儿就诊于解放军联勤保障部队第九六〇医院。患儿3月龄起即间断发热、双下肢皮疹，逐渐出现手指坏疽、脑梗死，血常规示轻度贫血、血小板升高，白细胞介素（IL）6及IL-8升高，基因测序显示患儿猫眼综合征染色体候选基因1（CECR1）有2个杂合突变，诊断为腺苷脱氨酶2缺乏症，该病临床罕见，造血干细胞移植是有效治疗手段，不仅可以治愈免疫学和血液学异常，还能治愈抗炎治疗无效的血管炎症状。." @default.
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- W3033419265 date "2020-06-02" @default.
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- W3033419265 title "[Treatment of deficiency of adenosine deaminase 2 caused by CECR1 mutation with myeloablative hematopoietic stem cell transplantation]." @default.
- W3033419265 doi "https://doi.org/10.3760/cma.j.cn112140-20191021-00659" @default.
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