Serum Biomarkers for Early Diagnosis of Chinese X-CGD Children:Case Reports and a Literature Review

Since X-linked chronic granulomatosis disease(X-CGD)exhibits no specific clinical symptoms at an early stage,early diagnosis is difficult and depends predominantly on neonatal screening.Therefore,the aim of this study was to explore routine biomarkers for X-CGD in children and provide clues for early diagnosis.The cases of 10 children with X-CGD diagnosed at Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology from 2013 to 2016 and 122 Chinese children with X-CGD reported in the literature were summarized.Serum biomarkers and clinical symptoms at acute infection were organized.A total of 132 children with X-CGD were enrolled in this study.For 55.8%of the patients,the diagnosis was delayed more than one year after the onset of the first symptoms because no typical clinical symptoms manifested.Children with X-CGD at an acute infection stage showed three recurrent signs in temis of serum biomarkers:(1)the total number of white blood cells(especially N%)was in creased significantly,accompanied by anemia in some cases;(2)C-reactive protein(CRP)levels were increased significantly;and(3)most of the patients exhibited very high serum IgG levels(>12 g/L).Diagnosis of X-CGD at an early age is difficult because of its nonspecific clinical features.Our study suggested children with X-CGD suffering acute infection show increases in three typical serum biomarkers,which can provide clues for early diagnosis.