Immune dysregulation syndrome caused by STAT3 gene mutation: a complicated case study
YAO An-Qi, CHEN Ke-Ke, HE Xiang-Ling, TIAN Xin
Department of Pediatric Hematologic Oncology, First Affiliated Hospital of Hunan Normal University/Children's Medical Center of Hunan People's Hospital, Changsha 410005, China
4岁6个月男性患儿，以发热、咳嗽、面色苍白及乏力起病，有肝脾大、淋巴结肿大并全血细胞减少，自幼反复呼吸道及消化道感染，基因检查示STAT3基因存在致病性杂合突变c.C2147 > T （p.T716M），故该患儿诊断为免疫失调综合征。前期抗感染及不规律激素治疗疗效欠佳，予规律激素治疗后症状好转。该文报道了1例STAT3基因突变致免疫失调综合征，对该病流行病学、临床特征、诊疗等进行归纳总结，为该病的早期诊断、治疗及后续研究提供了参考依据。
Abstract：A boy, aged 4 years and 6 months, had disease onset of fever, cough, pale complexion, and weakness, with hepatosplenomegaly, lymphadenectasis, and pancytopenia. He had been having repeated respiratory and digestive tract infections. Gene detection showed a pathogenic heterozygous mutation, c.C2147 > T(p.T716M), in the STAT3 gene. The boy was thus diagnosed with immune dysregulation syndrome. Anti-infective therapy and irregular corticosteroid therapy had an unsatisfactory effect in the early stage, but the symptoms improved after regular corticosteroid therapy. This article reported the case of immune dysregulation syndrome caused by STAT3 gene mutation and summarized the epidemiology, clinical features, diagnosis, and treatment of this disease, which can provide a reference for early diagnosis, treatment, and future studies of this disease.
YAO An-Qi,CHEN Ke-Ke,HE Xiang-Ling et al. Immune dysregulation syndrome caused by STAT3 gene mutation: a complicated case study[J]. CJCP, 2021, 23(4): 397-401.
Bousfiha A, Jeddane L, Al-Herz W, et al. The 2015 IUIS phenotypic classification for primary immunodeficiencies[J]. J Clin Immunol, 2015, 35(8):727-738.
[2]
Flanagan SE, Haapaniemi E, Russell MA, et al. Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease[J]. Nat Genet, 2014, 46(8):812-814.
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants:a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genet Med, 2015, 17(5):405-424.
Haddad E. STAT3:too much may be worse than not enough![J]. Blood, 2015, 125:583-584.
[11]
Gutiérrez M, Scaglia P, Keselman A, et al. Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations[J]. Mol Cell Endocrinol, 2018, 473:166-177.
[12]
Weinreich MA, Vogel TP, Rao VK, et al. Up, down, and all around:diagnosis and treatment of novel STAT3 variant[J]. Front Pediatr, 2017, 5:49.
[13]
Sediva H, Dusatkova P, Kanderova V, et al. Short stature in a boy with multiple early-onset autoimmune conditions due to a STAT3 activating mutation:could intracellular growth hormone signalling be compromised?[J]. Horm Res Paediatr, 2017, 88(2):160-166.
[14]
Fabre A, Marchal S, Forbes LR, et al. STAT3 gain of function:a new kid on the block in interstitial lung diseases[J]. Am J Respir Crit Care Med, 2018, 197(11):e22-e23.
[15]
Forbes LR, Vogel TP, Cooper MA, et al. Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1(STAT1) or STAT3 mutations[J]. J Allergy Clin Immunol, 2018, 142(5):1665-1669.
