Abstract: Objective To discuss the clinical manifestation, diagnosis and treatment of the primary immunode-ficiency disease (PIDs), especially CGD and PIDs complicated by Mtb or BCG infection, in order to improve the recognition, diagnosis and treatment. Methods Keywords: “primary immunodeficiency diseases”, “chronic granulomatous disease”, “Mycobacterium tuberculosis (Mtb), BCG”, “chronic granulomatous disease” in Chinese and “Mycobacterium tuberculosis” in Chinese were used to retrieve the articles in PubMed, Web of Science, CNKI and Wanfang of recent fourteen years and 21 articles were retrieved finally. We explored the characteristics, clinical presentation, diagnosis and treatment of primary immunodeficiency diseases (PIDs) complicated by Mtb or BCG and reviewed the literature on this topic in order to improve the capacity of diagnosis and treatment of the disease. Results PIDs often began with repeated or multiple infections while Mtb infection was the most common one. Children who infected with Mtb often got diagnosis through pathology or bacteriological, while the diagnosis of PIDs was based on genetic detection. Treatment of the disease was mainly anti-infection and symptomatic treatment. In our case, the child had CGD, EB virus associated lymphoproliferative diseases and lymph node tuberculosis, his condition improved after chemotherapy, anti-infection, anti-tuberculosis treatment. Conclusion Due to the clinical manifestation, laboratory examination, imaging features of PIDs combined with BCG or Mtb infection are lack of specificity, and the children who have the diseases always have a poor prognosis, early diagnosis and treatment of the diseases are important.

Key words: Tuberculosis, lymph node, Granulomatous disease, chronic