Movahedi Masoud, Entezari Neda, Pourpak Zahra, Mamishi Setareh, Chavoshzadeh Zahra, Gharagozlou Mohammad, Mir-Saeeid-Ghazi Bahram, Fazlollahi Mohammad-Reza, Zandieh Fariborz, Bemanian Mohammad-Hasan, Farhoudi Aboulhasan, Aghamohammadi Asghar
Immunology, Asthma and Allergy Research Institute, Children Medical Center, Tehran University of Medical Sciences, IR, Iran.
J Clin Immunol. 2007 May;27(3):302-7. doi: 10.1007/s10875-006-9069-4. Epub 2007 Feb 10.
Leukocyte adhesion deficiency type I (LAD I) is a rare, inherited, autosomal recessive, immunodeficiency disease caused by the combined loss of expression on the surface of leukocytes of the leukocyte integrins. We describe the clinical and laboratory findings for 15 patients with LAD I. The range of patients' ages was from 10 month to 14 years (median 4 years) and 93.3% of their parents had consanguineous marriages. The most commonly occurred manifestations were: recurrent infections (93.3%), poor wound healing (86%), oral ulcers (86%), and skin abscesses (80%). The most specific laboratory findings were defect in CD18 in all of 15 patients. The most common symptoms in these patients are poor wound healing and oral ulcer, so, the clinical physicians should pay special attention to these symptoms. Furthermore, because of considerable rate of consanguineous marriages in parents of LAD patients, we suggested more genetic studies on this disease and genetic consultation for these families.
I型白细胞黏附缺陷症（LAD I）是一种罕见的、遗传性的、常染色体隐性免疫缺陷疾病，由白细胞整合素在白细胞表面表达共同缺失引起。我们描述了15例I型白细胞黏附缺陷症患者的临床和实验室检查结果。患者年龄范围为10个月至14岁（中位数4岁），其父母93.3%为近亲结婚。最常见的表现为：反复感染（93.3%）、伤口愈合不良（86%）、口腔溃疡（86%）和皮肤脓肿（80%）。最具特异性的实验室检查结果是15例患者CD18均有缺陷。这些患者最常见的症状是伤口愈合不良和口腔溃疡，因此，临床医生应特别关注这些症状。此外，由于I型白细胞黏附缺陷症患者父母近亲结婚比例相当高，我们建议对这种疾病进行更多的遗传学研究，并为这些家庭提供遗传咨询。
