Objective:To investigate the clinical characteristics of the disease spectrum of pediatric hyper blood immunoglobulin E (IgE).Methods:A total of 498 children with total serum IgE ≥ 5×10 5 IU/L admitted to the Department of Pediatrics, Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University from January 2012 to December 2018 were enrolled.Their clinical data, etiology distribution, clinical manifestations, laboratory results, treatment and outcomes were retrospectively analyzed.According to serum total IgE level, patients were divided into mildly increased IgE group (5×10 5-<10×10 5 IU/L), moderately increased group (10×10 5-<20×10 5 IU/L), and severely increased group (≥20×10 5 IU/L). The distribution of disease types among the 3 groups were compared. Results:(1) Allergic disease (213 cases) was the most common etiology in children with hyper blood IgE, and infectious disease (163 cases), mycoplasma pneumoniae (109 cases) and EB virus (120 cases) were common pathogens.(2) The incidence of allergic diseases (45.0%) and infectious diseases (42.2%) in the mildly increased group was significantly higher than that in the moderately increased group (40.8%, 26.2%, respectively) and the severely increased group(38.9%, 12.2%, respectively) (all P<0.001). The incidence of immune diseases(18.5%), tumors and hematological diseases (5.4%) in the moderately increased group was significantly higher than that of the mildly increased group (4.4%, 2.0%, respectively) (all P<0.001). The incidence of immune diseases (34.4%), tumors and hematological diseases (11.1%) in the severely increased group was significantly higher than that of the mildly increased group(4.4%, 2.0%, respectively) and the moderately increased group (18.5%, 5.4%, respectively) (all P<0.001). (3) The main clinical manifestations were fever (63.5%), respiratory symptoms (53.7%) and lympha-denopathy (53.7%), 47.5% of the children with hyper blood IgE had an increased white blood cell count, and 12.1% of them had an increased eosinophil count.(4) The most common specific allergens were dust mite combination (32.0%), milk (17.0%), and egg white (16.0%). There was no difference in disease distribution among the 3 groups of hyper blood IgE children with positive specific IgE ( P=0.164). Conclusions:Hyper blood IgE in children are most commonly caused by allergic and infectious diseases.The etiological distributions of hyper blood IgE in children at varying severities differ a lot.The higher the total IgE level, the higher the incidence of immunodeficiency disease, rheumatic disease, tumor and hematological disease.

Objective To analyze the clinical manifestations and gene variations of tumor necrosis factor receptor-associated periodic syndrome (TRAPS).Methods Clinical data and gene testing of four children and three adult relatives in a family from Puning,Guangdong were retrospectively analyzed.CD4+T cells,CD8+T cells,B cells,monocytes and NK cells were assessed by flow cytometry.Plasma level of TNFR receptors were assessed by enzyme linked immunosorbent assay (ELISA).TNFRSF1A gene variation was identified by second generation sequencing.Swiss-Model was used to analyze the potential impact of TNFRSF1A gene variation on its protein tertiary structure.Results For all the patients,periodic fever was the main clinical feature,combined with arthralgia,myalgia,multiple serositis,periorbital edema and migratory cutaneous rash,accompanied with elevated level of acute-phase reactants and increased white blood cell counts during each episode.This disease was found in both gender and every generation in this family.The median age of onset was 2 years,ranging from 6 months to 30 years.The plasma level of TNFR1 of the patients range from 0 to 12.4 ng/L,which was lower than that of the normal controls range from 18.0～ 22.2 ng/L,while the level of TNFR2 was normal.Also,the numbers of T cells,B cells and monocytes were within normal range;however,number of NK cells in the patients (0.070±0.034) was lower than that in the normal controls (0.152±0.122).The TNFRSF 1A variation,located in exon 3:c.295T＞A (p.C99S),was found in the proband as well as the other 6 family members,which could induce change of the side chain of amino acid according to the prediction of the three-dimensional structure,subsequently affecting the binding to the receptor.Conclusions TRAPS is characterized by periodic fever,arthralgia,myalgia,multiple serositis,periorbital edema and migratory cutaneous rash,with a significant decrease in plasma level of TNFR1 and NK cells.The gene sequencing analysis revealed a pathogenic variation in TNFRSF1A gene.