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

Background: As a form of severe combined immunodeficiency (SCID), Janus kinase 3 () deficiency can be fatal during severe infections in children, especially after inoculation of live-attenuated vaccines. We report a unique case of deficiency with two compound heterozygous mutations complicated by disseminated Bacille Calmette-Guérin (BCG) disease and pneumonia.

Case Description: A 5-month-old Chinese girl presented with recurring fever and productive cough after BCG vaccination and ineffective antibiotic treatment.