Department of Immunology, University College London Medical School (Royal Free Campus), London, United Kingdom.
J Allergy Clin Immunol. 2013 Mar;131(3):825-30. doi: 10.1016/j.jaci.2012.09.025. Epub 2012 Nov 14.
Inherited deficiencies of IL-10 or IL-10 receptor (IL-10R) lead to immune dysregulation with life-threatening early-onset enterocolitis.
We sought to gather clinical data of IL-10/IL-10R-deficient patients and devise guidelines for diagnosis and management, including hematopoietic stem cell transplantation (HSCT).
We enrolled 40 patients with early-onset enterocolitis and screened for mutations in IL10/IL10R using genetic studies, functional studies, or both of the IL-10 signaling pathway. Medical records of IL-10/IL-10R-deficient patients were reviewed and compiled.
Of 40 patients, we identified 7 with novel mutations, predominantly in consanguineous families with more than 1 affected member. IL-10/IL-10R-deficient patients had intractable enterocolitis, perianal disease, and fistula formation. HSCT was carried out in 2 patients with IL-10 deficiency and 1 patient with IL-10R α chain deficiency and proved to be an effective therapy, leading to rapid improvement of clinical symptoms and quality of life.
Because the defect in patients with IL-10/IL-10R deficiency resides in hematopoietic lineage cells and their colitis is resistant to standard immunosuppressive therapy, HSCT should be considered early as a potentially curative therapeutic option.
IL-10 或 IL-10 受体（IL-10R）的遗传缺陷可导致危及生命的早发性结肠炎伴免疫失调。
我们旨在收集 IL-10/IL-10R 缺陷患者的临床数据，并制定诊断和管理指南，包括造血干细胞移植（HSCT）。
我们纳入了 40 例早发性结肠炎患者，并通过遗传研究、功能研究或 IL-10 信号通路的两者结合来筛查 IL10/IL10R 突变。回顾和编纂了 IL-10/IL-10R 缺陷患者的病历。
在 40 例患者中，我们发现了 7 例新突变，主要见于有 1 名以上受影响成员的近亲家庭。IL-10/IL-10R 缺陷患者患有难治性结肠炎、肛周疾病和瘘管形成。2 例 IL-10 缺乏症患者和 1 例 IL-10Rα 链缺乏症患者进行了 HSCT，证明这是一种有效的治疗方法，可迅速改善临床症状和生活质量。
由于 IL-10/IL-10R 缺陷患者的缺陷存在于造血谱系细胞中，且其结肠炎对标准免疫抑制疗法具有抗性，因此应尽早考虑 HSCT 作为一种潜在的治愈性治疗选择。
