Common variable immunodeficiency associated with a novel STAT3 gene mutation in infants:a case report and literature review

doi:10.12114/j.issn.1007-9572.2020.00.156

Abstract

Abstract: Common variable immunodeficiency（CVID）is a commonly encountered heterogeneous immunodeficiency syndrome characterized mainly by low immuneglobulinemia，repeated bacterial infections，T or B lymphocyte dysfunction.Most of the patients presented with multigenetic and multifactorial etiological features，but few of them were induced by the single pathogenic gene，of which the STAT3 is regarded as the novel one.We reported an infant with CVID associated with STAT3 gene mutation with a detailed description of the clinical presentations，diagnosis and treatment process.Besides，we introduced the new information about the pathogenesis，diagnosis，treatment and prognosis of STAT3 mutation related CVID based on reviewing related studies.Our study may deepen clinicians' understanding of this disease.

Key words: Common variable immunodeficiency, STAT3 gene mutation, Clinical characteristic, Case reports, Diagnosis, Therapy, Prognosis

摘要： 普通变异性免疫缺陷综合征（CVID）是临床常见的一种以低免疫球蛋白血症、反复细菌感染、T淋巴细胞或B淋巴细胞功能障碍为主要特征的异质性免疫缺陷综合征，大多数患者表现为多基因和多因子病因学特征，但少数患者发现单个基因的致病性突变，其中STAT3基因是新型CVID突变基因之一。本文报道1例以慢性腹泻为主要临床表现伴有STAT3基因突变的CVID婴儿的临床特征及诊治过程，通过本例分析结合相关文献复习，对STAT3基因突变相关的CVID发病、诊断、治疗、预后进行分析总结，以提高临床医生对该基因突变导致CVID的认识水平。

关键词: 普通可变性免疫缺陷, STAT3基因突变, 临床表现, 病例报告, 诊断, 治疗, 预后

XU Meixian,LIU Gang,CAO Lijing, et al. Common variable immunodeficiency associated with a novel STAT3 gene mutation in infants:a case report and literature review[J]. Chinese General Practice, 2020, 23(20): 2599-2603. DOI: 10.12114/j.issn.1007-9572.2020.00.156.
徐梅先,刘刚,曹利静等. 新型STAT3基因突变致普通变异性免疫缺陷综合征一例报道及文献复习[J]. 中国全科医学, 2020, 23(20): 2599-2603. DOI: 10.12114/j.issn.1007-9572.2020.00.156.

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