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Article

[A case report of severe combined immunodeficiency caused by IL7R gene deficiency].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Dec 2020

Zhang X Q, Song X X, Tang W G, Qiu M H, Jin Z Q

Abstract excerpt

患儿女，4.5月龄，以“腹泻2周、咳嗽10 d、发热1 d”就诊，结合既往史、临床表现及外周淋巴细胞绝对计数、淋巴细胞亚群、基因检测，诊断为白细胞介素7受体α（IL7R）基因缺陷导致重症联合免疫缺陷病。患儿IL7R基因存在复合杂合突变， c.169T>C，p.C57R和c.799A>G，p.R267G(NM_002185）既往均未见报道。.

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Identifiers

PMID: 33256325
DOI: 10.3760/cma.j.cn112140-20200602-00567

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