Neuhaus T J, Briner J
Pediatr Pathol. 1986;5(3-4):251-70. doi: 10.3109/15513818609068853.
Twenty-six patients with severe combined immunodeficiency (SCID) were examined. In 20 cases no defect of the biochemical pathways was found; 6 cases showed a deficiency in adenosine deaminase (ADA) activity. In 19 cases histological sections of the thymus were available. In 3 cases, in addition to the original thymuses, transplanted thymic allografts were microscopically examined. The thymus in SCID without abnormality of the ADA pathway showed a uniform dysplastic pattern with only moderate variations related to mode of inheritance and length of survival. The thymus in SCID with ADA deficiency displayed a heterogeneous pattern ranging from almost normal to a completely dysplastic structure, whereas the transplanted thymic allografts presented either a normal or a dysplastic appearance. The morphology of the thymus is not pathognomonic of any given biochemical defect, clinical course, or type of SCID. SCID with apparently normal biochemical pathways probably results from a variety of pathogenetic mechanisms.
对26例重症联合免疫缺陷（SCID）患者进行了检查。20例未发现生化途径缺陷；6例显示腺苷脱氨酶（ADA）活性缺乏。19例有胸腺组织切片。3例除原胸腺外，还对移植的胸腺同种异体移植物进行了显微镜检查。ADA途径无异常的SCID患者的胸腺呈现一致的发育异常模式，仅与遗传方式和存活时间有适度差异。ADA缺乏的SCID患者的胸腺呈现异质性模式，从几乎正常到完全发育异常的结构不等，而移植的胸腺同种异体移植物则呈现正常或发育异常的外观。胸腺的形态并非任何特定生化缺陷、临床病程或SCID类型所特有的。生化途径明显正常的SCID可能由多种致病机制引起。
