The nuclease Artemis is a enzyme for V(D)J recombination allowing for the creation of T and B lymphocytes as well as for the repair of radiation-induced DNA double strand breaks encoded by the DCLRE1C gene. Artemis-null mutations are a known cause of severe combined immunodeficiencies (SCIDs) with radiosensitivity. Hypomorphic mutations in Artemis have been reported to cause a “leaky SCID” phenotype, typically with hypogammaglobulinemia. We present four patients, all harboring the same unique hypomorphic mutation in the DCLRE1C gene, an 8-base pair insertion (c.1299_1306dup, p.Cys436*) presenting with a relatively mild phenotype including pulmonary infectious EBV-related lymphoproliferative diseases, an autoimmune phenomenon. Non-typical findings of IgG hypergammaglobulinemia accompanied by IgA and IgE deficiency were recorded in all patients. The typical viral, fungal, and opportunistic infections were absent, and patients reached a relatively old age.

核酸酶Artemis是V（D）J重组的酶，可产生T和B淋巴细胞，并修复DCLRE1C编码的辐射诱导的DNA双链断裂基因。Artemis-null突变是具有放射敏感性的严重联合免疫缺陷（SCID）的已知原因。据报道，Artemis中的亚型突变会导致“泄漏的SCID”表型，通常伴有低血球蛋白血症。我们介绍了四名患者，所有患者在DCLRE1C基因中都具有相同的独特亚型突变，一个8碱基对插入（c.1299_1306dup，p.Cys436 *）表现出相对较轻的表型，包括肺部感染性EBV相关的淋巴增生性疾病，自身免疫现象。在所有患者中均记录了IgG高球蛋白血症伴IgA和IgE缺乏的非典型发现。不存在典型的病毒，真菌和机会性感染，并且患者的年龄相对较大。