Schuetz Catharina, Huck Kirsten, Gudowius Sonja, Megahed Mosaad, Feyen Oliver, Hubner Bernd, Schneider Dominik T, Manfras Burkhard, Pannicke Ulrich, Willemze Rein, Knüchel Ruth, Göbel Ulrich, Schulz Ansgar, Borkhardt Arndt, Friedrich Wilhelm, Schwarz Klaus, Niehues Tim
Department of Pediatrics and Adolescent Medicine, University Hospital Ulm, Ulm, Germany.
N Engl J Med. 2008 May 8;358(19):2030-8. doi: 10.1056/NEJMoa073966.
We describe three unrelated girls who had an immunodeficiency disease with granulomas in the skin, mucous membranes, and internal organs. All three girls had severe complications after viral infections, including B-cell lymphoma associated with Epstein-Barr virus (EBV). Other findings were hypogammaglobulinemia, a diminished number of T and B cells, and sparse thymic tissue on ultrasonography. Molecular analysis revealed that the patients were compound heterozygotes for mutations in recombination activating gene 1 or 2 (RAG1 or RAG2). In each case, both parents were heterozygous carriers of a RAG mutation. The mutations were associated with reduced function of RAG in vitro (3 to 30% of normal activity). The parents and one sibling in the three families were healthy.
我们描述了三名无亲缘关系的女孩，她们患有一种免疫缺陷疾病，在皮肤、黏膜和内脏器官出现肉芽肿。这三名女孩在病毒感染后均出现严重并发症，包括与爱泼斯坦-巴尔病毒（EBV）相关的B细胞淋巴瘤。其他发现包括低丙种球蛋白血症、T细胞和B细胞数量减少以及超声检查显示胸腺组织稀疏。分子分析表明，这些患者是重组激活基因1或2（RAG1或RAG2）突变的复合杂合子。在每种情况下，父母均为RAG突变的杂合携带者。这些突变与体外RAG功能降低有关（正常活性的3%至30%）。三个家庭中的父母和一名兄弟姐妹均健康。
