Comel‐Netherton syndrome (NS) is a rare autosomal disease, characterized by severe skin disease, hair shaft defects, atopic diathesis, and increased susceptibility for skin infections. Since patients with NS suffer from recurrent infections, it has been hypothesized that an underlying immunodeficiency attributes to this. Here, we studied clinical and immunological characteristics of the cohort of NS patients in the Netherlands in order to identify whether potential immunodeficiencies result in the increased risk of infectious complications.

中文翻译：

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Comel-Netherton 综合征：无潜在全身性免疫缺陷的局部皮肤屏障缺陷

Comel-Netherton 综合征 (NS) 是一种罕见的常染色体疾病，其特征是严重的皮肤病、毛干缺陷、特应性素质和皮肤感染的易感性增加。由于 NS 患者反复感染，有人假设潜在的免疫缺陷归因于此。在这里，我们研究了荷兰 NS 患者队列的临床和免疫学特征，以确定潜在的免疫缺陷是否会导致感染并发症的风险增加。