Pathogenesis and development of genetic diagnosis for combined immunodeficiency in Japanese Black beef cattle

7只雄性和1只雌性日本黑牛肉小牛被定义为免疫缺陷综合征。受影响的小牛在10至80日龄发病。所有犊牛均出现腹泻、肺活率增高和轻度吸气性呼吸困难，并在2-4周内逐渐加重。犊牛出现淋巴细胞减少和低蛋白血症，血清IgG1、IgG2、IgM和IgA浓度极低。尸检时，淋巴结、脾脏、胸腺和Peyer’s斑块明显小于正常。前胃及皱胃粘膜感染引起弥散性肺不张及弥漫性出血性坏死性溃疡。胸腺皮层和髓质淋巴细胞减少，皮质髓质分化少或无分化。日本黑犊的这种免疫缺陷综合征的临床和病理表现与人类和阿拉伯马的严重联合免疫缺陷非常相似。

Immunodeficiency syndrome was defined in 7 male and 1 female Japanese Black beef calves. Affected calves became ill from 10 to 80 days of age. All calves had diarrhea, increased pulmonary rate, and mild inspiratory dyspnea, and become progressively worse over a period of 2-4 weeks. The calves had lymphopenia and hypoproteinemia with extremely low concentration of serum IgG1, IgG2, IgM and IgA. At necropsy, lymph nodes, spleen, thymus, and Peyer's patches were appreciably smaller than normal. Disseminated pulmonary atelectasis and diffuse hemorrhagic and necrotizing ulcer caused by the infection of Mucorales in the forestomach and abomasum were present. Depletion of lymphocytes in the cortex and medulla with little or no corticomedullary differentiation were in thymus. Clinical and pathologic findings of this immunodeficiency syndrome in Japanese Black calves were closely similar to severe combined immunodeficiency of humans and Arabian horses.