PDF(Pubmed)
Abstract：
Interleukin-2 receptor alpha (IL2RA) defect (OMIM- # 606367) is an immune disease where affected patients are vulnerable to developing recurrent microbial infections in addition to lymphadenopathy and dermatological manifestations. This condition is known to be caused by pathogenic variants in the IL2RA gene, which are inherited in an autosomal recessive fashion. In this case report, we present a patient with IL2RA defect from Saudi Arabia who presented with chronic diarrhea, poor weight gain, mild villous atrophy, malnutrition, hepatomegaly, nonspecific inflammation, and an eczematous skin rash. His genetic analysis revealed a novel, homozygous, and likely pathogenic variant, that is, c.504 C>A (Cys168Ter), located in the exon 4of the IL2RA gene, which was inherited from his parents in an autosomal recessive mode of inheritance. This variant produces a 272-amino-acid shorter IL2RA protein chain, which most likely becomes degraded in the cytosol. Thus, we assume that the c.504 C>A is a null allele that abolishes the synthesis of IL2RA, malforms the IL-2 receptor complex, and eventually causes immunodeficiency manifestations. To our knowledge, this is the first time a person with IL2RA defect has shown signs of granulomatous hepatitis on a liver biopsy.
摘要：
白细胞介素-2受体α(IL2RA)缺陷(0MIMM-#606367)是一种免疫疾病,其中受影响的患者除了淋巴结病和皮肤病表现之外还容易发生复发性微生物感染。已知这种情况是由IL2RA基因的致病变体引起的，以常染色体隐性方式遗传。在这个案例报告中,我们介绍了一位来自沙特阿拉伯的IL2RA缺陷患者，他表现为慢性腹泻，体重增加不良,轻度绒毛萎缩,营养不良,肝肿大,非特异性炎症,还有湿疹性皮疹.他的基因分析揭示了一部小说，纯合子，和可能的致病变异，也就是说,c.504C>A（Cys168Ter），位于IL2RA基因的外显子4，是以常染色体隐性遗传方式遗传他的父母.该变体产生272个氨基酸的较短IL2RA蛋白链，最有可能在细胞质中降解。因此，我们假设c.504C>A是一个无效等位基因，它消除了IL2RA的合成，畸形IL-2受体复合物，并最终导致免疫缺陷表现。据我们所知,这是IL2RA缺陷患者首次在肝活检中显示肉芽肿性肝炎的迹象.
