TY - JOUR T1 - Hyperimmunoglobulinemia D Syndrome Variant — Seek and You Shall Find JF - The Journal of Rheumatology JO - J Rheumatol SP - 2276 LP - 2276 DO - 10.3899/jrheum.110518 VL - 38 IS - 10 AU - DORON RIMAR AU - GLEB SLOBODIN AU - ITZHAK ROSNER AU - NINA BOULMAN AU - MICHAEL ROZENBAUM Y1 - 2011/10/01 UR - http://www.jrheum.org/content/38/10/2276.abstract N2 - To the Editor:Hyperimmunoglobulinemia D syndrome (HIDS) was first described in 1984 by Van Der Meer, et al1. This periodic syndrome begins in early childhood and is characterized by attacks of fever lasting 3–7 days accompanied by abdominal pain, rash, arthritis, cervical lymphadenopathy, and high urinary mevalonic acid. Between attacks, serum IgD, and to a lesser extent IgA, is persistently elevated. The disease segregates mostly to families in the Netherlands and northern Europe. In 1999, 2 independent groups demonstrated that HIDS is caused by a recessive mutation in the mevalonate kinase (MVK) gene on chromosome 12q242. To date, more than 50 MVK gene mutations have been found. Patients with HIDS can be assigned to one of 2 groups: classic type — those having mutations in the gene for MVK, or variant type — those lacking mutations3. Cases of variant HIDS may present a diagnostic challenge, frequently presenting atypical features and absence of elevated IgD. We … Address correspondence to Dr. Rimar; E-mail: doronrimar{at}gmail.com ER -