Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome.

Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome.

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...

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Main Authors: Geeta Madathil Govindaraj, Abhinav Jain, Geetha Peethambaran, Rahul C Bhoyar, Shamsudheen Karuthedath Vellarikkal, Arvind Ganapati, Pulukool Sandhya, Athulya Edavazhippurath, Dhananjayan Dhanasooraj, Jayakrishnan Machinary Puthenpurayil, Krishnan Chakkiyar, Anushree Mishra, Arushi Batra, Anu Punnen, Sathish Kumar, Sridhar Sivasubbu, Vinod Scaria
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2020-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0237999

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