ABSTRACT
Objective To investigate the detection and clinical features of primary immunodeficiency disorders (PID) in children for an earlier diagnosis of disease.Methods The clinical data of the 27 children with PID diagnosed in Shengjing Hospital Affiliated to China Medical University from Dec.2003 to Nov.2011 were reviewed,including illness history,birth history,family history,clinical feature,laboratory data,diagnosis,treatment and outcome,etc.Results In 27 children with PID,antibody deficiencies were the most frequent findings (48.15％,13/27 cases),followed by combined immunodeficiency (22.22％,6/27 cases),phagocytic disorders (14.81％,4/27 cases),and immunodeficiency with other major defects accounted for 14.81％ (4/27 cases).PID was characterized by recurrent,severe and prolonged infection,but all kinds of PID had their own clinical features.Recurrent infections occurred in 24 cases.Respiratory infections and otitis media were the most common clinical manifestation.Seven patients had a family history.The fatality rate was 37.04％ (10/27 cases).Conclusions There are vast varieties of PID in our area and antibody deficiencies are the most common type.All kinds of PID have their own clinical features,which may guide us to choose appropriate lab examination.There are nearly 25％ patients with PID who have family history.The fatality rate is high.Patients who suffer from recurrent infections,especially respiratory infections or otitis media,or those with a family history should have early immunology testing so as to be detected and diagnosed of PID earlier.