Objective    To explore the value of clinical and genetic diagnoses for hyper-IgE syndrome (HIES).     Methods    NIH scoring system was performed on 4 children (3 males and 1 female) suspected of HIES

with a total score over 40 points as the clinical diagnostic criteria. The STAT3 gene of the 4 children was analyzed by RT-PCR and PCR-direct sequencing.     Results    All the 4 children suffered from recurrent eczema and pneumonia

extremely high serum IgE level and eosinophilia increase. Recurrent staphylococcal infections were found in children 1-3. NIH scores of children 1-4 were 60

48

72 and 48 points

respectively. Three heterozygous missense mutations in STAT3 gene were identified in children 1-3

including one novel mutation and two hotspot mutations. However

child 4 showed a wild type STAT3 gene.     Conclusion    Three STAT3 mutations are identified in the 4 cases with HIES

including a novel mutation. NIH scoring is necessary for the suspected HIES patients. STAT3 gene sequencing analysis can confirm the diagnosis or rule out autosomal dominant HIES when the score is over 40 points.