Molecular analysis of the <i>MVK</i> and <i>TNFRSF1A</i> genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: A low‐penetrance <i>TNFRSF1A</i> variant in a heterozygous <i>MVK</i> carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa

Abstract

The genotype findings indicate that a relatively small number of genes may be involved in the clinical manifestation of HIDS, with low-penetrance TNFRSF1A variants possibly influencing the HIDS phenotype or MVK mutations contributing to TRAPS.