Kilic Sara S, Etzioni Amos
Department of Pediatric Immunology, Uludag University School of Medicine, Bursa, Turkey.
J Clin Immunol. 2009 Jan;29(1):117-22. doi: 10.1007/s10875-008-9226-z. Epub 2008 Aug 16.
Leukocyte adhesion deficiency (LAD) type III is a rare syndrome characterized by severe recurrent infections, leukocytosis, and increased bleeding tendency. All integrins are normally expressed yet a defect in their activation leads to the observed clinical manifestations.
Less than 20 patients have been reported world wide and the primary genetic defect was identified in some of them. Here we describe the clinical features of patients in whom a mutation in the calcium and diacylglycerol-regulated guanine nucleotide exchange factor 1 (CalDAG GEF1) was found and compare them to other cases of LAD III and to animal models harboring a mutation in the CalDAG GEF1 gene.
The hallmarks of the syndrome are recurrent infections accompanied by severe bleeding episodes distinguished by osteopetrosis like bone abnormalities and neurodevelopmental defects.
III型白细胞黏附缺陷症（LAD）是一种罕见综合征，其特征为严重的反复感染、白细胞增多以及出血倾向增加。所有整合素通常均有表达，但它们激活过程中的缺陷导致了所观察到的临床表现。
全球报道的患者不足20例，其中部分患者已确定主要基因缺陷。在此，我们描述了发现钙和二酰基甘油调节的鸟嘌呤核苷酸交换因子1（CalDAG GEF1）发生突变的患者的临床特征，并将其与其他III型LAD病例以及携带CalDAG GEF1基因突变的动物模型进行比较。
该综合征的特征为反复感染，并伴有严重出血发作，其特点为类似骨质石化的骨骼异常和神经发育缺陷。
