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

BACKGROUND: As 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 com...

Descripción completa

Detalles Bibliográficos
Autores principales: Pan, Ying, Pan, Hui, Lian, Chunan, Wu, Beiyan, Lin, Jieying, Huang, Guang, Cui, Binglin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9712176/
https://www.ncbi.nlm.nih.gov/pubmed/36466884
http://dx.doi.org/10.3389/fimmu.2022.1055607

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9712176/
https://www.ncbi.nlm.nih.gov/pubmed/36466884
http://dx.doi.org/10.3389/fimmu.2022.1055607

Ejemplares similares