Abstract：
Common variable immunodeficiency (CVID) has been recognised as the most common primary immunodeficiency in adulthood, and is characterised by increased susceptibility to infection, autoimmunity and increased risk of malignancies. Although ocular manifestations are not common in CVID, rare associated inflammatory eye conditions have been reported including submacular choroiditis.
To report a case of punctate inner choroidopathy in a patient with common variable immunodeficiency.
A 40-year-old lady with CVID and associated autoimmune thrombocytopenia, who was treated with immunoglobulin replacement and Eltrombopag, experienced gradually deteriorating right eye vision. Fundal examination and optical coherence tomography (OCT) revealed right multifocal retinal choroidal lesions consistent with a diagnosis of unilateral punctate inner choroidopathy (PIC) with secondary choroidal neovascularisation (CNV). Anti-VEGF injections led to stabilised fundal appearances. Genetic testing revealed a heterozygous sequence change c.260 T > Ap.(IIe87Asn), pathogenic variant in the Tumour Necrosis Factor Superfamily 13B (TNFRSF13B) gene, which is reported as being associated with ∼10% of CVID cases.
Autoimmunity may be the dominant clinical presenting feature of CVID. Punctuate inner choroidopathy is an idiopathic inflammatory chorioretinopathy, and to the best of our knowledge, has not been previously reported in CVID. A better understanding of the molecular bases of autoimmune diseases in CVID may provide novel therapeutic targets for autoimmune diseases in this patient population.
To report a case of punctate inner choroidopathy in a patient with common variable immunodeficiency.
A 40-year-old lady with CVID and associated autoimmune thrombocytopenia, who was treated with immunoglobulin replacement and Eltrombopag, experienced gradually deteriorating right eye vision. Fundal examination and optical coherence tomography (OCT) revealed right multifocal retinal choroidal lesions consistent with a diagnosis of unilateral punctate inner choroidopathy (PIC) with secondary choroidal neovascularisation (CNV). Anti-VEGF injections led to stabilised fundal appearances. Genetic testing revealed a heterozygous sequence change c.260 T > Ap.(IIe87Asn), pathogenic variant in the Tumour Necrosis Factor Superfamily 13B (TNFRSF13B) gene, which is reported as being associated with ∼10% of CVID cases.
Autoimmunity may be the dominant clinical presenting feature of CVID. Punctuate inner choroidopathy is an idiopathic inflammatory chorioretinopathy, and to the best of our knowledge, has not been previously reported in CVID. A better understanding of the molecular bases of autoimmune diseases in CVID may provide novel therapeutic targets for autoimmune diseases in this patient population.
摘要：
背景：常见可变免疫缺陷（CVID）已被认为是成年后最常见的原发性免疫缺陷，其特点是对感染的易感性增加，自身免疫和恶性肿瘤风险增加。虽然眼部表现在CVID中并不常见，据报道，罕见的相关炎症性眼部疾病包括黄斑下脉络膜炎。
目的：报告1例常见变异型免疫缺陷患者的点状内部脉络膜病变。
方法：一位患有CVID和相关自身免疫性血小板减少症的40岁女士，他接受了免疫球蛋白替代和Eltrombopag治疗，右眼视力逐渐恶化。Fundal检查和光学相干断层扫描（OCT）显示右侧多灶性视网膜脉络膜病变与单侧点状内部脉络膜病变伴继发性脉络膜新生血管（CNV）的诊断一致。.抗VEGF注射导致稳定的眼底外观。遗传检测显示杂合序列变化c.260T>Ap。(IIe87Asn),肿瘤坏死因子超家族13B（TNFRSF13B）基因的致病变异，据报道，这与约10%的CVID病例有关。
结论：自身免疫可能是CVID的主要临床表现特征。点状脉络膜内脉络膜病变是一种特发性炎性脉络膜视网膜病变，据我们所知,之前未在CVID中报告。更好地了解CVID中自身免疫性疾病的分子基础可能为该患者人群中的自身免疫性疾病提供新的治疗靶标。
目的：报告1例常见变异型免疫缺陷患者的点状内部脉络膜病变。
方法：一位患有CVID和相关自身免疫性血小板减少症的40岁女士，他接受了免疫球蛋白替代和Eltrombopag治疗，右眼视力逐渐恶化。Fundal检查和光学相干断层扫描（OCT）显示右侧多灶性视网膜脉络膜病变与单侧点状内部脉络膜病变伴继发性脉络膜新生血管（CNV）的诊断一致。.抗VEGF注射导致稳定的眼底外观。遗传检测显示杂合序列变化c.260T>Ap。(IIe87Asn),肿瘤坏死因子超家族13B（TNFRSF13B）基因的致病变异，据报道，这与约10%的CVID病例有关。
结论：自身免疫可能是CVID的主要临床表现特征。点状脉络膜内脉络膜病变是一种特发性炎性脉络膜视网膜病变，据我们所知,之前未在CVID中报告。更好地了解CVID中自身免疫性疾病的分子基础可能为该患者人群中的自身免疫性疾病提供新的治疗靶标。
