HIES in children:a case report and literature review
To raise the awareness of HIES in children by analyzing the clinical data of one patient with HIES ad-mitted to our hospital and his family members,the immunodeficiency related genes testing was performed for the patient and his parents.The patient aged 1 year 6 months attended the hospital due to"paroxysmal cough for half a month,fever for 2 days".Previously he had 9-10 respiratory infections,5 of which were diagnosed as"pneumonia".Laboratory exami-nation showed a significant increase in IgE,and thoracic CT showed that multiple patchy shadows with blurred boundary were observed in bilateral lung and partial pulmonary consolidation in the right upper lobe with bronchial shadows.The patient was given treatment including anti-infection,immunoglobulin and aerosol inhalation.Reexamination of thoracic CT showed that right upper lobe pneumonia significantly decreased and improved than before.Genetic test results revealed that the patient had the c.1144delCT heterozygous mutation in the STAT3gene.Relevant articles were reviewed.HIES can be classified into 2 types:autosomal dominant HIES(AD-HIES)and autosomal recessive HIES(AR-HIES).Pres-ently STAT3 is the only known pathogenic gene of AD-HIES which accounting for 60%-70%of all HIES.Children hos-pitalized with recurrent pneumonia,lung abscess,recurrent rash and skin pustules should be paid attention that consum-mating relevant examinations,performing NIH score,and HIES-related genetic testing are necessary to avoid delay in di-agnosis.
万方数据
维普
