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Article

Hypergammaglobulinemia D and Periodic Fever Syndrome (HIDS) in a 3-year-old Patient from Puerto Rico.

Puerto Rico health sciences journal - 1 Sept 2024

Alicea-Negrón Abdiel J, Toledo-García Marilyn, Torres-Quiñones Marta, López-Martínez Annette, González-Chávez Jose R

Abstract excerpt

Mevalonate kinase deficiency is a rare autosomal recessive disease caused by mutations in the mevalonate kinase gene (MVK). Depending on the mutations, a patient with this deficiency can exhibit any one of a spectrum of rare autoinflammatory diseases, such as hypergammaglobulinemia D (hyper-IgD) with periodic fever syndrome and mevalonic aciduria. To date, approximately 300 cases with mutations in the MVK gene...

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PMID: 39269768

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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