Hawkins H K, Heffelfinger S C, Anderson D C
Department of Pathology, Baylor College of Medicine, Houston, Texas.
Pediatr Pathol. 1992 Jan-Feb;12(1):119-30. doi: 10.3109/15513819209023288.
The clinical and autopsy findings in a patient with the severe form of leukocyte adhesion deficiency are presented. An 18-month-old Hispanic female had a history of delayed umbilical cord separation, recurrent necrotizing skin lesions, and gingivitis. Her neutrophils were found to lack detectable CD11/CD18 adhesion glycoproteins and were deficient in adhesion-dependent functions. She succumbed to necrotizing enterocolitis, peritonitis, and pneumonia following sudden cardiorespiratory collapse. Postmortem examination revealed multiple regions of mucosal ulceration and bacterial and fungal overgrowth with complete lack of an acute inflammatory response. Impaired neutrophil emigration from blood vessels into injured tissue appears to have been the basis of this patient's disease. Some of the many foci of bronchopneumonia, in contrast, contained numerous neutrophils. Lymphoid tissue, including the thymus, was severely depleted of lymphocytes. These findings support the concepts that neutrophils can emigrate in response to certain stimuli via CD18-independent mechanisms and that severe deficiency of CD18 is associated with compromised function of lymphocytes in vivo.
本文报告了一名患有严重形式白细胞黏附缺陷症患者的临床和尸检结果。一名18个月大的西班牙裔女性有脐带延迟脱落、复发性坏死性皮肤病变和牙龈炎病史。发现她的中性粒细胞缺乏可检测到的CD11/CD18黏附糖蛋白，且黏附依赖性功能存在缺陷。她在突发心肺功能衰竭后死于坏死性小肠结肠炎、腹膜炎和肺炎。尸检显示多处黏膜溃疡区域以及细菌和真菌过度生长，完全缺乏急性炎症反应。中性粒细胞从血管向受损组织的迁移受损似乎是该患者疾病的基础。相比之下，一些支气管肺炎病灶含有大量中性粒细胞。包括胸腺在内的淋巴组织严重缺乏淋巴细胞。这些发现支持了以下观点：中性粒细胞可通过不依赖CD18的机制对某些刺激做出迁移反应，且CD18的严重缺乏与体内淋巴细胞功能受损有关。
