Abstract：OBJECTIVE: To summarize clinical features of primary immunodeficiency diseases (PID) in children. METHODS: The clinical data of 35 children with PID from September 2005 to December 2008 were studied retrospectively, including illness history, birth history, family history, clinical manifestations, laboratory findings, diagnosis, treatment and outcome. RESULTS: Of the 35 cases of PID, 6 cases were confirmed with combined T- and B-cell immunodeficiency, 4 cases with X-linked agammaglobulinaemia, 22 cases with selective IgG subclass deficiency, 1 case with common variable immunodeficiency and 2 cases with chronic granulomatous disease. All cases had fever and recurrent infections. Respiratory and digestive tract infections were the most common clinical manifestation. Some of the PID cases lagged behind the normal children of the same age in growth and development. Human γ-globulin transfusion and anti-infection therapy were administered. Two patients discontinued the therapy, one was transferred to the other hospital and the other 32 patients were discharged following improvement in clinical symptoms. CONCLUSIONS: PID should be considered in children who suffer from recurrent infections and autoimmune diseases or do not respond to long-term use of antibiotics. Immunologic tests should be done as early as possible for the children.［Chin J Contemp Pediatr, 2010, 12 (8):625-629］
［2］Notarangelo L,Casanova JL,Conley ME, Chapel H,Puck J,Roifman C, et al. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest,2005［J］. J Allergy Clin Immunol, 2006,117(4):883-896.
［6］Kirkpatrick P,Riminton S. Primary immunodeficiency diseases in Australia and New Zealand［J］.J Clin Immunol, 2007, 27(5):517-524.
［7］Shabestari MS,Maljaei SH,Baradaran R, Barzegar M, Hashemi F, Mesri A, et al. Distribution of primary immunodeficiency diseases in the Turk ethnic group, living in the northwestern iran［J］.J Clin Immunol, 2007, 27(5):510-516.
［8］Boyle JM,Buckley RH. Population prevalence of diagnosed primary immunodeficiency diseases in the United States［J］.J Clin Immunol, 2007, 27(5):497-502.
［15］Orange JS, Hossny EM, Weiler CR, Ballow M, Berger M, Bonilla FA, et al. Use of intravenous immunoglobulin in human disease: a review of evidence by members of the Primary Immunodeficiency Committee of the American Academy of Allergy, Asthma and Immunology［J］.J Allergy Clin Immunol, 2006,117(4 Suppl):S525-S553.
