背景:单基因狼疮是系统性红斑狼疮(SLE)的一种罕见变种,在单基因疾病患者中发展。早期补体成分缺乏是要描述的单基因狼疮的第一种形式,而C1Q基因突变是最常见的形式之一。据报道,C1QA补体缺乏症通常是由于C1QA基因中的双等位基因变体而发生的,而C1QA基因中的复合杂合变体很少有报道。大多数患有C1Q缺乏症的单基因狼疮患者存在粘膜皮肤,肾,和肌肉骨骼表现。我们的患者是一个不寻常的单基因狼疮病例,伴有严重的神经系统表现和皮肤,血液学,和肝脏表现继发于C1QA基因和抗核糖体P自身抗体阳性的罕见复合杂合变异。她接受了糖皮质激素治疗,利妥昔单抗和新鲜冷冻血浆,部分神经系统恢复。因此,由于C1QA基因中罕见的复合杂合变异,我们介绍了一个独特的单基因狼疮病例,并简要回顾了文献。
BACKGROUND: Monogenic lupus is a rare variant of systemic lupus erythematosus (SLE) that develops in patients with a single gene disorder. Early complement component deficiencies were the first forms of monogenic lupus to be described and C1Q gene mutations are one of the most common forms. C1QA complement deficiency has been reported to occur usually due to biallelic variants in C1QA gene and compound heterozygous variants in C1QA gene have rarely been reported. Majority of the monogenic lupus patients with C1Q deficiency present with mucocutaneous, renal, and musculoskeletal manifestations. Our patient is an unusual
case of monogenic lupus with severe neurological manifestations along with cutaneous, haematological, and hepatic manifestations secondary to rare compound heterozygous variants in C1QA gene and anti-ribosomal P autoantibody positivity. She was treated with glucocorticoids, rituximab and fresh frozen plasma with partial neurological recovery. Thus, we present a unique
case of monogenic lupus due to a rare compound heterozygous variant in C1QA gene with a brief review of literature.