Case report: mutations in jak3 causing severe combined immunodeficiency complicated by disseminated bacille calmette–guérin disease and pneumocystis pneumonia

HIGHLIGHTS

• who: Ying Pan from the University of Gothenburg, Sweden Germany have published the research: Case Report: Mutations in JAK3 causing severe combined immunodeficiency complicated by disseminated Bacille Calmetteu2013Guu00e9rin disease and Pneumocystis pneumonia, in the Journal: (JOURNAL)
• what: This report has elucidated an exceptional case of JAK3 deficiency with two JAK3 mutations complicated by disseminated BCG disease, Pneumocystis pneumonia, and probable respiratory viral infections.
• future: Basic/clinical studies are required to understand the pathogenicity of the variants and molecular mechanism of the JH7 domain of the JAK3 protein for better gene therapy and HSCT . . .
  

   

  

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