摘要本文回顾性分析2021年11月温州医科大学附属第二医院（育英儿童医院）新生儿科收治的1例经全外显子组测序检测确诊常染色体隐性遗传信号传导及转录激活因子（signal transducer and activator of transcription 1， STAT1）基因功能完全缺陷病患儿的临床病例资料。患儿男，生后第2天接种卡介苗，第21天出现持续发热、白细胞计数、C-反应蛋白升高，血液、骨髓均检测出人巨细胞病毒，经抗病毒、抗生素、静脉注射丙种球蛋白等治疗后好转，出院后口服抗病毒药物。生后第55天患儿再次因发热住院，血液病原微生物检测出人巨细胞病毒、结核分枝杆菌复合群。住院期间经治疗后高热不退，转诊至复旦大学附属儿科医院。经积极治疗，患儿感染仍加重，并出现多器官功能衰竭，家属放弃治疗后患儿于生后69 d死亡。患儿经全外显子组测序检测为 STAT1基因纯合变异，染色体位置：chr2：191855978，基因变异信息：NM_007315：exon11：c.1011_1012del（p.V339Pfs*18），诊断为常染色体隐性遗传 STAT1基因功能完全缺陷病。常染色体隐性遗传 STAT1基因功能完全缺陷病临床表现为致死性的胞内弱致病性分枝杆菌和病毒的广泛感染，全外显子组测序有助于早期诊断和及时治疗。该病预后极差。早期抗结核、抗病毒治疗或可使患儿短期内症状好转。

abstractsWe reported the clinical data of a neonate admitted to the Second Affiliated Hospital (Yuying Children's Hospital) of Wenzhou Medical University in November 2021 with autosomal recessive complete signal transducer and activator of transcription 1 ( STAT1) deficiency identified by whole exome sequencing. The baby boy received bacillus of calmette-guerin (BCG) vaccine 2 d after birth and presented with persistent high fever, increased white blood cell count and increased level of C-reactive protein (CRP) on 21 d after birth. Human cytomegalovirus (HCMV) was detected in both blood and bone marrow specimens. The patient improved after comprehensive treatment with antiviral agents, antibiotics and intravenous gammaglobulin. Oral anti-viral drugs were prescribed on discharge. However, the baby was rehospitalized due to a fever at 55 days. HCMV and Mycobacterium tuberculosis complex were detected in blood samples. The infant was transferred to the Children's Hospital of Fudan University due to persistent high fever even after active management and died after treatment withdrawal at 69 d after birth because of worsening infections and multiple organ failure. A homozygous mutation in the STAT1 gene was detected [c.1011_1012del, NM_007315: exon11: c.1011_1012del (p.V339Pfs*18)] and the child was diagnosed as autosomal recessive complete STAT1 deficiency. We concluded that the clinical manifestations of autosomal recessive complete STAT1 deficiency are bacterial infections caused by lethal low-pathogenic mycobacteria and life-threatening virus infections. Whole exome sequencing is of great value for early diagnosis and timely treatment. The prognosis of this disease is very poor, but the condition of the patients might be improved in a short period with early anti-tuberculosis and anti-viral treatment.