Objective To investigate the clinical features, immunophenotype, gene mutation sites, and diagnosis and treatment of primary immunodeficiency disease (PID) caused by tyrosine kinase 2 (TYK2) gene mutation. Methods The clinical data, molecular genetic test results, and treatment of a child with PID caused by Tyk2 gene mutations were retrospectively analyzed, and a review of the relevant literature was conducted. Results The patient was a 1-year and 8-month-old girl, who suffered from repeated pulmonary infection, eczema, and BCG-related complications after birth. The genetic test revealed compound heterozygous mutations in the TYK2 (c. 209_delGCTT; p. C70Sfs21/c. 1507C>T; p. R503X). After anti-infection therapy, the patient improved and was discharged from the hospital, and human immunoglobulin was infused regularly after discharge. A total of 11 relevant literatures were retrieved, and 18 patients with PID caused by TYK2 gene mutation were reported. The main clinical phenotype of patients with TYK2 gene mutation was intracellular bacterial (especially mycobacterial) infection and/or viral infection. Immunologically, the number of lymphocytes and immunoglobulins were basically normal, but there were multiple cytokine signaling defects. TYK2 gene mutation caused elevated serum IgE in some PID patients. Conventional anti-infective regimens were effective for most of the children, and some children required anti-mycobacterial therapy. Conclusions When the patient suffers from repeated bacterial infection (especially intracellular bacteria), viral infection, eczema or atopic dermatitis, with or without elevated serum IgE, the possibility of PID caused by TYK2 gene mutation should be considered. Gene sequence analysis can assist in early diagnosis. [ABSTRACT FROM AUTHOR]