IL2RG基因新突变致X-连锁联合免疫缺陷1例
The Journal of Medical Theory and Practice（2021）
Abstract
X连锁严重联合免疫缺陷( X-linked severe combined Im-munodeficiency, X-SCID)是由编码普通γ链( IL2RG)的基因突变引起的一种罕见的危及生命的疾病.目前国内有散发的病例报道,本文通过1例IL2RG基因新突变致 X-连锁联合免疫缺陷的报道,希望增加对非典型X-SCID的认识,有助于早期诊断该类疾病.
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