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Is Mevalonate Kinase Deficiency an Autoimmune Condition?
No, it is a rare Autoinflammatory condition.
Is Mevalonate Kinase Deficiency a genetic condition?
- Yes, Mevalonate Kinase Deficiency is recessive a genetic condition. This means that you need to have inherited one copy of the gene variant from each parent to be affected by Mevalonate Kinase Deficiency.
What is the difference between Autoimmune and Autoinflammatory conditions?
"Autoinflammatory and autoimmune disorders are the 2 main categories of immune system disorders. Although these 2 inflammatory disorders are common, they have unique characteristics. In most cases, innate immunity dysfunction indicates the presence of autoinflammatory disorders caused by genetic mutations, while adaptive immunity dysfunction indicates the presence of autoimmune disorders"
Kim YD. Systemic autoinflammatory disorders: autoinflammatory and autoimmune disorders. Clin Exp Pediatr. 2023 Oct;66(10):439-440. doi: 10.3345/cep.2023.00605. Epub 2023 Jul 4. PMID: 37402467; PMCID: PMC10556795
I already have one child with Mevalonate KInase Deficiency, will my other children have it too?
- 1-in-4 (25%) chance of a child inheriting both gene copies with the pathogenic variant and therefore being affected;
- 1-in-2 (50%) chance of a child inheriting one copy of the gene with the pathogenic variant and one non-pathogenic copy, and therefore being a carrier themselves; and
- 1-in-4 (25%) chance of a child inheriting both non-pathogenic copies and being neither affected nor a carrier. Source: Autosomal recessive inheritance - National Genomics Education Programme, NHS https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/autosomal-recessive-inheritance/