Jain Harsh, Kartik S, Kumar Abhishek, Dwivedi Aradhana, Jayaprakash Sankar, Vasdev V, Chandwani Ashish
Department of Clinical Immunology and Rheumatology, Army Hospital Research and Referral, New Delhi, India.
Department of Paediatrics, Geneticist, Army Hospital Research and Referral, New Delhi, India.
Mod Rheumatol Case Rep. 2025 Jan 16;9(1):57-62. doi: 10.1093/mrcr/rxae039.
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. A majority of 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 antiribosomal 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.
单基因狼疮是系统性红斑狼疮（SLE）的一种罕见变体，发生于患有单基因疾病的患者。早期补体成分缺陷是最早被描述的单基因狼疮形式，而C1Q基因突变是最常见的形式之一。据报道，C1QA补体缺陷通常由于C1QA基因的双等位基因变异而发生，而C1QA基因的复合杂合变异很少被报道。大多数C1Q缺陷的单基因狼疮患者表现为皮肤黏膜、肾脏和肌肉骨骼方面的症状。我们的患者是一例不寻常的单基因狼疮病例，除了皮肤、血液和肝脏症状外，还伴有严重的神经症状，这继发于C1QA基因罕见的复合杂合变异和抗核糖体P自身抗体阳性。她接受了糖皮质激素、利妥昔单抗和新鲜冰冻血浆治疗，神经功能部分恢复。因此，我们报告了一例因C1QA基因罕见的复合杂合变异导致的单基因狼疮独特病例，并对相关文献进行简要综述。
