医学
严重联合免疫缺陷
免疫学
免疫缺陷
乙胺丁醇
肺孢子虫肺炎
原发性免疫缺陷
错义突变
肺结核
病毒学
耶氏肺孢子虫
结核分枝杆菌
生物
免疫系统
病理
突变
基因
生物化学
人类免疫缺陷病毒(HIV)
作者
Ying‐Xian Pan,Hui Pan,Lian Chu-nan,Beiyan Wu,Jintian Lin,G. S. Huang,Binglin Cui
标识
DOI:10.3389/fimmu.2022.1055607
摘要
As a form of severe combined immunodeficiency (SCID), Janus kinase 3 (JAK3) deficiency can be fatal during severe infections in children, especially after inoculation of live-attenuated vaccines. We report a unique case of JAK3 deficiency with two compound heterozygous JAK3 mutations complicated by disseminated Bacille Calmette-Guérin (BCG) disease and Pneumocystis pneumonia.A 5-month-old Chinese girl presented with recurring fever and productive cough after BCG vaccination and ineffective antibiotic treatment. Chest CT demonstrated bilateral infiltrations, enlarged mediastinal and axillary lymph nodes, and hypoplasia of the thymus. Mycobacterium tuberculosis and Pneumocystis jirovecii were detected from blood samples by sequencing. Acid-fast bacilli were also found from the sputum aspirate and gastric aspirate. Lymphocyte subset analyses indicated T-B+NK- immunodeficiency, and gene sequencing identified two heterozygous missense mutations (one unreported globally) in the Janus homology 7 (JH7) domain of JAK3. The patient received rifampicin, isoniazid, ethambutol, and trimethoprim/sulfamethoxazole and was discharged after improvements but against advice.The patient died at 13 months of age due to severe infections and hepatic damage.SCID should be recognized before inoculation of live-attenuated vaccines in children. Newborn screening for SCID is advocated. Further investigations are needed to better understand the pathogenicity of the variants and molecular mechanism of the JH7 domain of JAK3.
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