Sherkat Roya, Afshar Moghaddam Noushin, Reisi Nahid, Rezaei Marzieh
Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
Department of Pathology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Adv Biomed Res. 2022 Apr 29;11:31. doi: 10.4103/abr.abr_169_21. eCollection 2022.
Ataxia-telangiectasia (AT) is a type of primary immunodeficiency characterized by an autosomal recessive mode of inheritance and usually presents with progressive cerebellar ataxia in early life. This complex disease is associated with humoral and cellular immune dysfunction and other features including characteristic oculocutaneous telangiectasia and increased predisposition to cancers, particularly lymphoma and leukemia. An 11-year-old Iranian girl presented with primary immunodeficiency and was diagnosed as having AT according to her clinical manifestations and molecular findings. She had a history of two types of non-Hodgkin's lymphoma and showed spontaneous regression of her diffuse large B-cell lymphoma without any specific treatment. Gene mutations and dysfunction in patients with AT result in different manifestations including abnormal development of the thymus, immunodeficiency, increased susceptibility to malignancies, and increased radiosensitivity. No standard treatment is available for these patients. The use of immunotherapeutic strategies in patients with primary immune deficiency disease-associated tumors is potentially important.
共济失调毛细血管扩张症（AT）是一种原发性免疫缺陷病，其特征为常染色体隐性遗传模式，通常在生命早期表现为进行性小脑共济失调。这种复杂的疾病与体液免疫和细胞免疫功能障碍以及其他特征相关，包括典型的眼皮肤毛细血管扩张和患癌倾向增加，尤其是淋巴瘤和白血病。一名11岁的伊朗女孩表现出原发性免疫缺陷，根据其临床表现和分子检测结果被诊断为患有AT。她有两种非霍奇金淋巴瘤病史，且其弥漫性大B细胞淋巴瘤未经任何特殊治疗便出现自发消退。AT患者的基因突变和功能障碍会导致不同表现，包括胸腺发育异常、免疫缺陷、患恶性肿瘤易感性增加以及放射敏感性增加。目前尚无针对这些患者的标准治疗方法。在原发性免疫缺陷病相关肿瘤患者中使用免疫治疗策略可能具有重要意义。
