Clinical investigation of 135 primary immunodeficiency disorders in children

Objective To analyze the occurrence and diagnosis of the primary immunodeficiency disorders in children,and to promote the pediatrician to understand more about these disorders.Methods Overview the clinical data of the 135 children with primary immunodeficiency disorders diagnosed in our hospital from May 1993 to December 2007,including the symptom,physical sign,age of onset,family history and results of immunologic test.Results In the 135 children with primary immunodeficiency disorders,antibody deficiencies were the most frequent(34.8%),followed by phagocyte deficiencie(s18.5%),other well defined immunodeficiency syndromes(14.8%),combined T-and B-cell immunodeficiencies(11.9%),disease of immune dysregulation(5.9%),complement deficiencies(0.7%)and other primary immunodeficiencies(13.3%).The ratio of boys to girls was 110 to 25,and clinical diagnosis to genetically diagnosis was 98 to 37.Nine cases were diagnosed in 1993 to 1996,23 cases in 1997 to 2000,31 cases in 2001 to 2003 and 7 cases were genetically diagnosed,72 cases in 2004 to 2006 and 30 cases were genetic diagnosed.Conclusion The primary immunodeficiency disorders are inherited diseases which mainly occur in children.They are the substantial cause of recurrent,severe and deadly infection in children.It seems to be a tendency that the incidence increases with time.Genetic analysis becomes an important diagnostic technique for PID.