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

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

BackgroundAs a form of severe combined immunodeficiency (SCID), Janus kinase 3 (JAK3) deficiency can be fatal during severe infections in children, especially after inoculation of live-attenuated vaccines. We report a unique case of JAK3 deficiency with two compound heterozygous JAK3 mutations compl...

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Bibliographic Details
Main Authors: Ying Pan, Hui Pan, Chunan Lian, Beiyan Wu, Jieying Lin, Guang Huang, Binglin Cui
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-11-01
Series:Frontiers in Immunology
Subjects:
JAK3 deficiency
severe combined immunodeficiency
Mycobacterium tuberculosis
Pneumocystis jirovecii
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2022.1055607/full

Internet

https://www.frontiersin.org/articles/10.3389/fimmu.2022.1055607/full

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