Long term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications
Long term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications
复制标题
DOI：
10.1016/j.clim.2018.03.005
复制
发表时间：
2018-06-01
影响因子：
8.6
通讯作者：
Badolato, Raffaele
中科院分区：
文献类型：
--
作者：
De Rose, Domenico Umberto;Giliani, Silvia;Badolato, Raffaele
1型白细胞黏附缺陷(LAD-1)是一种罕见的原发免疫缺陷，其原因是编码β2整合素家族(CD18)共同β链的基因突变。在此，我们描述了8例LAD-1患者的临床表现和远期并发症。4例LAD-1患者接受了造血干细胞移植(HSCT)治疗，其余4例，包括2例中度LAD-1缺乏症患者，接受了持续的抗生素预防。未经治疗的患者表现出许多感染和自身免疫表现。特别是，其中两人发展为肾脏和肠道自身免疫性疾病，尽管Beta-2整合素的表达部分保守。另外两名LAD-1患者在HSCT后出现1型糖尿病和自身免疫性细胞减少，这表明HSCT对预防LAD-1感染是有效的，但不能预防自身免疫性并发症的风险。
Leukocyte Adhesion Deficiency type 1 (LAD-1) is a rare primary immunodeficiency due to mutations in the gene encoding for the common beta-chain of the beta 2 integrin family (CD18). Herein, we describe clinical manifestations and long-term complications of eight LAD-1 patients. Four LAD-1 patients were treated with hematopoietic stem cell transplantation (HSCT), while the remaining four, including two with moderate LAD-1 deficiency, received continuous antibiotic prophylaxis. Untreated patients presented numerous infections and autoimmune manifestations. In particular, two of them developed renal and intestinal autoimmune diseases, despite the expression of Beta-2 integrin was partially conserved. Other two LAD-1 patients developed type 1 diabetes and autoimmune cytopenia after HSCT, suggesting that HSCT is effective for preventing infections in LAD-1, but does not prevent the risk of the autoimmune complications.