ArticleFrontiers in immunology2018
Cutaneous Vasculitis and Digital Ischaemia Caused by Heterozygous Gain-of-Function Mutation in
Article in Frontiers in immunology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 7 citations in OpenAlex.
- Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report.Pediatric rheumatology online journal · 2021Article
- Recent Updates and Advances in Winiwarter-Buerger Disease (Thromboangiitis Obliterans): Biomolecular Mechanisms, Diagnostics and Clinical Consequences.Diagnostics (Basel, Switzerland) · 2021Review
- Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.JAMA network open · 2019Article
- Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2.Frontiers in immunology · 2019Article
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
It is now increasingly recognized that some monogenic autoinflammatory diseases and immunodeficiencies cause vasculitis, although genetic causes of vasculitis are extremely rare. We describe a child of non-consanguineous parents who presented with cutaneous vasculitis, digital ischaemia and hypocomplementaemia. A heterozygous p.R1042G gain-of-function mutation (GOF) in the complement component C3 gene was identified as the cause, resulting in secondary C3 consumption and complete absence of alternative complement pathway activity, decreased classical complement activity, and low levels of serum C3 with normal C4 levels. The same heterozygous mutation and immunological defects were also identified in another symptomatic sibling and his father. C3 deficiency due GOF
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