Case Report: Mutations in JAK3 causing severe combined immunodeficiency complicated by disseminated Bacille Calmette-Guérin disease and Pneumocystis pneumonia.

Ying Pan,Hui Pan, Chunan Lian,Beiyan Wu, Jieying Lin,Guang Huang,Binglin Cui

Frontiers in immunology（2022）

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摘要

SCID should be recognized before inoculation of live-attenuated vaccines in children. Newborn screening for SCID is advocated. Further investigations are needed to better understand the pathogenicity of the variants and molecular mechanism of the JH7 domain of .

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关键词

JAK3 deficiency,Mycobacterium tuberculosis,Pneumocystis jirovecii,case report,severe combined immunodeficiency

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