Chusid M J, Pisciotta A V, Duquesnoy R J, Camitta B M, Tomasulo P A
Am J Hematol. 1980;8(3):315-24. doi: 10.1002/ajh.2830080310.
Congenital neutropenia (CN) was diagnosed in a five-month-old boy. A variety of studies was performed to define the pathogenesis of his disease. Opsonic antineutrophil antibodies wre present in his serum. Transfused normal granulocytes circulated poorly. Incubation of the patient's serum with normal granulocytes failed to alter their metabolic or functional activity. The patient's marrow demonstrated increased numbers of colony-forming units (CFUs) in vitro compared with control marrow. The patient's parents had low marrow CFU activity. The patient's serum and peripheral lymphocytes failed to inhibit normal marrow CFU activity. The patient's marrow did inhibit CFU growth of an HLA-identical-sibling's marrow in coculture. Histocompatibility studies demonstrated the HLA-B12 antigen in this patient, a histocompatibility marker previously associated with CN. These studies suggest some cases of CN are associated with a genetically transmitted marrow factor capable of suppressing myelopoiesis in normal marrow.
一名五个月大的男婴被诊断出患有先天性中性粒细胞减少症（CN）。进行了各种研究以确定其疾病的发病机制。他的血清中存在调理抗中性粒细胞抗体。输入的正常粒细胞循环不佳。患者血清与正常粒细胞孵育未能改变其代谢或功能活性。与对照骨髓相比，患者的骨髓在体外显示出集落形成单位（CFU）数量增加。患者的父母骨髓CFU活性较低。患者的血清和外周淋巴细胞未能抑制正常骨髓CFU活性。在共培养中，患者的骨髓确实抑制了同卵 HLA 同胞骨髓的CFU生长。组织相容性研究表明该患者存在 HLA - B12 抗原，这是一种先前与CN相关的组织相容性标志物。这些研究表明，某些CN病例与一种能够抑制正常骨髓中骨髓生成的遗传传递骨髓因子有关。
