Department of Dermatology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Dermatology. 2011;223(1):13-9. doi: 10.1159/000330335. Epub 2011 Aug 26.
Non-infective cutaneous granulomas with unknown pathogenesis occur in various primary immunodeficiencies (PIDs) including ataxia telangiectasia (A-T).
To find a common immunological denominator in these cutaneous granulomas.
The dermatological and immunological features of 4 patients with A-T and cutaneous granulomas were described. The literature on skin granulomas in A-T and in other PIDs is reviewed.
All 4 A-T patients had progressive granulomas on their limbs and showed decreased IgG and IgA concentrations with normal IgM levels. They had a marked decrease in B cells and naïve T cells coinciding with the appearance of the cutaneous granulomas. Similar B- and T-cell abnormalities were described in patients with other PIDs with skin granulomas.
We hypothesize that the pathogenesis of these skin granulomas is related to immune dysregulation of macrophages due to the absence of naïve T cells with an appropriate T-cell receptor repertoire and the unopposed activity of γδ T cells and/or natural killer cells.
在各种原发性免疫缺陷病（PID）中，包括共济失调毛细血管扩张症（A-T），都会出现病因不明的非感染性皮肤肉芽肿。
在这些皮肤肉芽肿中寻找一个共同的免疫学基础。
描述了 4 例 A-T 合并皮肤肉芽肿患者的皮肤科和免疫学特征。对 A-T 及其他 PID 患者皮肤肉芽肿的文献进行了回顾。
所有 4 例 A-T 患者的四肢均有进行性肉芽肿，表现为 IgG 和 IgA 浓度降低，而 IgM 水平正常。他们的 B 细胞和初始 T 细胞明显减少，与皮肤肉芽肿的出现同时发生。在其他 PID 合并皮肤肉芽肿的患者中也描述了类似的 B 细胞和 T 细胞异常。
我们假设这些皮肤肉芽肿的发病机制与由于缺乏具有适当 T 细胞受体库的初始 T 细胞，以及 γδ T 细胞和/或自然杀伤细胞的不受抑制的活性，导致巨噬细胞免疫失调有关。
