Leukocyte Adhesion Deficiency type 1 (LAD-1) is a rare primary immunodeficiency due to mutations in the gene encoding for the common β-chain of the β2 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.

白细胞粘附缺陷型1（LAD-1）是一种罕见的原发性免疫缺陷，原因是β2整合素家族（CD18）的共同β链编码基因发生突变。在这里，我们描述了八名LAD-1患者的临床表现和长期并发症。4名LAD-1患者接受了造血干细胞移植（HSCT）治疗，而其余4名患者（包括2名中度LAD-1缺乏症）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，尽管Beta-2整联蛋白的表达被部分保守，但他们中的两名仍发展为肾脏和肠道自身免疫性疾病。另外两名LAD-1患者在HSCT后发展为1型糖尿病和自身免疫性血细胞减少症，这表明HSCT可有效预防LAD-1感染，