Successfully treated with siltuximab and prednisone in a 7-year-old girl with DOCK8-deficiency presenting as recurrent wart-like lesions: a case report.

司鲁昔单抗和泼尼松成功治疗了一名 7 岁女孩的 DOCK8 缺乏症 ， 表现为复发性疣样病变 ： 一例病例报告。

• 影响指数: 8.786
• 发表时间: 2024
• 来源期刊: Front Immunol
• DOI: 10.3389/fimmu.2024.1414573
• PMID: 39044832
• 文章类型: Case Reports
• 中科院分区: Q2
• 方向: 医学
• 作者列表: Sun Z,Wei R,Pan C,Ni C,Zhang X,Guan W,Cheng R,Gu Y,Yu H,He K,Zhang Z,Yu X,Yao Z

关键词: DOCK8 deficiency; IL-6; herpetic infections; primary immunodeficiency; siltuximab

Mesh: Humans; Female; Child; Guanine Nucleotide Exchange Factors / deficiency genetics; Prednisone / therapeutic use; Warts / drug therapy diagnosis; Treatment Outcome; Recurrence; Interleukin-6; Antibodies, Monoclonal

Abstract

Dedicator of cytokinesis 8 (DOCK8) deficiency represents a primary immunodeficiency with a wide range of clinical symptoms, including recurrent infections, atopy, and increased malignancy risk. This study presents a case of a 6-year-old girl with DOCK8 deficiency, characterized by severe, treatment-resistant herpetic infections who was successfully treated with siltuximab and glucocorticoids. The successful use of siltuximab in achieving remission highlights the pivotal role of interleukin-6 (IL-6) in DOCK8 deficiency pathogenesis and suggests that IL-6 modulation can be critical in managing DOCK8 deficiency-related viral infections, which may inform future therapeutic strategies for DOCK8 deficiency and similar immunodeficiencies.

摘要

细胞因子8（DOCK8）缺乏症代表了具有广泛临床症状的原发性免疫缺陷，包括反复感染,atopy,恶性肿瘤风险增加。这项研究提供了一个患有DOCK8缺乏症的6岁女孩的案例，以严重为特征,成功使用西妥昔单抗和糖皮质激素治疗的耐药疱疹感染。siltuximab在缓解中的成功使用突出了白介素-6（IL-6）在DOCK8缺乏发病机制中的关键作用，并表明IL-6调节在管理DOCK8缺乏相关的病毒感染中至关重要。这可能为DOCK8缺陷和类似免疫缺陷的未来治疗策略提供信息。