The Clinical Phenotype And Gene Diagnosis Of Primary Immunodeficiency Diseases In Children

Objective:To analyze the clinical features and genetic diagnosis of the primary immunodeficiency diseases in children,and to promote the pediatrician to understand more about these diseases. With early recognition, diagnosis and treatment of PID, we can save lives, improve the quality of life of patients and prolong the survival time, reduce disability, death rate.Methods:Overview the clinical data of the10children with primary immunodeficiency disorders diagnosed in our hospital from August2005to December2011,including the illness history,birth history,family history,clinical feature,laboratory data,diagnosis, treatment and outcome,etc.Results:In the10children with primary immunodeficiency diseases,antibody deficiencies were the most frequent(50%),followed by combined T-and B-cell immunodeficiencies (20%),other well defined immunodeficiency syndromes(20%),phagocyte deficiencies (10%).The10children were boys.PID was characterized by recurrent,severe and prolonged infection, but all kinds o f PID had their own clinical features. We can define the disease diagnosis, through the symptoms, signs, laboratory, genetic analysis.Conclusion:The primary immunodeficiency diseases are herited diseases which mainly occur in children.They are the substantial cause of recurrent,severe and deadly infection in children. These diseases seriously affect the children’s quality of life.They should be performed early diagnosis, early treatment, early intervention. Through a combination of clinical phenotypes, laboratory examination and gene analysis, we diagnosed10patients from the repeated clinical infection in children. We also analysed them characteristics, in order to enhance the awareness of pediatricians to this kind of disease and help early eugenics.