Autosomal recessive complete signal transducer and activator of transcription 1 deficiency in a newborn: a case report
10.3760/cma.j.cn113903-20220908-00801
- VernacularTitle:新生儿常染色体隐性遗传信号传导及转录激活因子1 基因功能完全缺陷病1例
- Author:
Ya DONG
1
;
Yumei HUANG
;
Huai JIANG
;
Yihui LEI
;
Jianghu ZHU
;
Shangqin CHEN
Author Information
1. 温州医科大学附属第二医院（育英儿童医院）新生儿科（浙江省儿童结构畸形研究重点实验室），温州 325027
- Keywords:
Primary immunodeficiency diseases;
STAT1 transcription factor;
Whole exome sequencing
- From:
Chinese Journal of Perinatal Medicine
2023;26(5):426-429
- CountryChina
- Language:Chinese
-
Abstract:
We 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.
