Minegishi Y, Lavoie A, Cunningham-Rundles C, Bédard P M, Hébert J, Côté L, Dan K, Sedlak D, Buckley R H, Fischer A, Durandy A, Conley M E
Department of Immunology, St. Jude Children's Research Hospital, Memphis, Tennessee 38101-0318, USA.
Clin Immunol. 2000 Dec;97(3):203-10. doi: 10.1006/clim.2000.4956.
Recent studies have shown that mutations in a newly described RNA editing enzyme, activation-induced cytidine deaminase (AID), can cause an autosomal recessive form of hyper IgM syndrome. To determine the relative frequency of mutations in AID, we evaluated a group of 27 patients with hyper IgM syndrome who did not have defects in CD40 ligand and 23 patients with common variable immunodeficiency. Three different mutations in AID were identified in 18 patients with hyper IgM syndrome, including 14 French Canadians, 2 Lumbee Indians, and a brother and sister from Okinawa. No mutations were found in the remaining 32 patients. In the group of patients with hyper IgM syndrome, the patients with mutations in AID were older at the age of diagnosis, were more likely to have positive isohemagglutinins, and were less likely to have anemia, neutropenia, or thrombocytopenia. Lymphoid hyperplasia was seen in patients with hyper IgM syndrome and normal AID as well as the patients with hyper IgM syndrome and defects in AID.
近期研究表明，一种新发现的RNA编辑酶——活化诱导胞嘧啶脱氨酶（AID）发生突变，可导致常染色体隐性形式的高IgM综合征。为确定AID突变的相对频率，我们评估了一组27例无CD40配体缺陷的高IgM综合征患者以及23例常见变异型免疫缺陷患者。在18例高IgM综合征患者中鉴定出AID的三种不同突变，其中包括14名法裔加拿大人、2名拉姆毕印第安人以及来自冲绳的一对兄妹。其余32例患者未发现突变。在高IgM综合征患者组中，AID发生突变的患者诊断时年龄较大，更有可能有阳性同种血凝素，且患贫血、中性粒细胞减少症或血小板减少症的可能性较小。在高IgM综合征且AID正常的患者以及高IgM综合征且AID有缺陷的患者中均可见淋巴样增生。
