Abstract: Background Gaucher Disease (GD) is a rare disease with abnormal immune function, which is often associated with different pathogenic infections. The clinical features of infections in different types of Gaucher disease are worthy of attention.Objective To explore the difference of susceptibility and infection severity in different types of Gaucher disease.DesignCase series report.Methods The occurrence of recurrent respiratory infections, pneumonia, severe pneumonia, live attenuated vaccination and related infections, and peripheral blood counts were collected from children with different types of Gaucher disease. Telephone follow-up was done to judge the prognosis (whether death occurred and its causes).Main outcome measures Recurrent respiratory infection, severe pneumonia, and infections after vaccination.Results From May 2013 to December 2019, 16 patients with Gaucher disease were diagnosed in Children's Hospital of Chongqing Medical University, including 7 males and 9 females. Four cases were classified as type 1, 8 cases as type 2 and 4 cases as type 3. There are 4 cases of recurrent respiratory infection with GD2 type. One GD2 type case suffered from lymph node tuberculosis after BCG vaccination. Three cases lost to follow-up, and 8 of the 13 follow-up patients died. Among the 8 dead patients, 7 patients were GD2 type, 4 of which died of respiratory tract infection and 3 of which died of nervous system disease, and the remaining one case was GD1 type who died of heart disease.Conclusion There are differences in the susceptibility and infection severity among different types of Gaucher disease. Children with type 2 Gaucher disease are at risk of tuberculosis infection after BCG vaccination.

Key words: Gaucher disease, Infection, Risk