Schwarz K, Gauss G H, Ludwig L, Pannicke U, Li Z, Lindner D, Friedrich W, Seger R A, Hansen-Hagge T E, Desiderio S, Lieber M R, Bartram C R
Section of Molecular Biology, University of Ulm, D-89070 Ulm, Germany.
Science. 1996 Oct 4;274(5284):97-9. doi: 10.1126/science.274.5284.97.
Patients with human severe combined immunodeficiency (SCID) can be divided into those with B lymphocytes (B+ SCID) and those without (B- SCID). Although several genetic causes are known for B+ SCID, the etiology of B- SCID has not been defined. Six of 14 B- SCID patients tested were found to carry a mutation of the recombinase activating gene 1 (RAG-1), RAG-2, or both. This mutation resulted in a functional inability to form antigen receptors through genetic recombination and links a defect in one of the site-specific recombination systems to a human disease.
患有人类重症联合免疫缺陷（SCID）的患者可分为有B淋巴细胞的患者（B + SCID）和无B淋巴细胞的患者（B - SCID）。虽然已知B + SCID有多种遗传病因，但B - SCID的病因尚未明确。在接受检测的14例B - SCID患者中，有6例被发现携带重组激活基因1（RAG - 1）、重组激活基因2（RAG - 2）或两者的突变。这种突变导致通过基因重组形成抗原受体的功能丧失，并将一种位点特异性重组系统的缺陷与一种人类疾病联系起来。
