关键词: 多内分泌腺疾病, 自身免疫性；AIRE基因；突变分析

Abstract: ObjectiveTo analyze the clinical and autoimmune regulator(AIRE) gene mutation characteristics of one case with autoimmune polyendocrinopathy syndrome typeⅠ(APSⅠ) and to further understand APSⅠ.MethodsOne case of 9year old male APSⅠ patient was analyzed. Clinical data of the patient was collected and 2 ml venous blood of the patient and his parents as well as his elder brother were extracted. All the exons and adjacent introns of 33 immunorelated genes were sequenced by next generation sequencing. AIRE gene mutation was detected and verified by sanger sequencing. Both his parents and elder brother's AIRE gene were analyzed. ResultsThe APSⅠ child patient had repeated oral candidiasis since soon after birth. Tetany and mucocutaneous hyperpigmentation successively appeared at 8 years old. His blood biochemistry and iPTH， ACTH， COR results along with his symptoms accorded with all the three aspects of the APSⅠdiagnostic criteria. AIRE gene test showed compound heterozygous mutation (IVS11+1G>A and AIRE gene heterozygous deletion) for the boy and a heterozygous mutation of IVS11+1G>A for his father respectively. Verification by realtime  quantitative polymerase chain reaction (QPCR) showed a heterozygous deletion of AIRE gene for his mother. There was no AIRE gene mutation detected for his elder brother. ConclusionGlands  involvement in APSⅠpatients always appeared successively leading to easy misdiagnosis and missed diagnosis. Therefore， more concerons put on new glands involvement during every followup. IVS11+1G>A mutation of AIRE gene is rare and its combination with heterozygous deletion of AIRE gene has not been reported.

Key words: polyendocrinopathies, autoimmune；AIRE gene； mutation  , analysis