Article
Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome.
PloS one - 1 Jan 2020
Govindaraj Geeta Madathil, Jain Abhinav, Peethambaran Geetha, Bhoyar Rahul C, Vellarikkal Shamsudheen Karuthedath, Ganapati Arvind, Sandhya Pulukool, Edavazhippurath Athulya, Dhanasooraj Dhananjayan, Puthenpurayil Jayakrishnan Machinary, Chakkiyar Krishnan, Mishra Anushree, Batra Arushi, Punnen Anu, Kumar Sathish, Sivasubbu Sridhar, Scaria Vinod
Abstract excerpt
Hyper-IgD syndrome (HIDS, OMIM #260920) is a rare autosomal recessive autoinflammatory disorder caused by pathogenic variants in the mevalonate kinase (MVK) gene. HIDS has an incidence of 1:50,000 to 1:5,000, and is thought to be prevalent mainly in northern Europe. Here, we report a case series of HIDS from India, which includes ten patients from six families who presented with a wide spectrum of clinical...
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