Hyperimmunoglobulinemia D syndrome is a rare autosomal recessive autoinflammatory disorder caused by mutations in the mevalonate kinase gene (MVK). In a proportion of patients, however, no MVK mutations are detected. Although various standard anti-inflammatory drugs have been tried, until now there is no consensus about how HIDS should be treated. We present a case of HIDS in an 8-year-old girl whose clinical picture had started before the end of the first year of life. The patient had consistently elevated IgD levels but no mutations were found after a full-length analysis of the MVK gene. The method of MVK mutational analysis is presented in details. Treatment with canakinumab in a final single dose of 4？mg/kg every 4 weeks resulted in the disappearance of febrile attacks and a considerable improvement of patients’ quality of life during a 12-month follow-up period. The drug has been well tolerated, and no side effects were observed. 1. Introduction Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) is a rare autosomal recessive autoinflammatory disorder, characterized by recurrent febrile attacks associated with lymphadenopathy, abdominal pain, diarrhea, arthralgia, and skin rash [1, 2]. HIDS is caused by mutations in the mevalonate kinase gene (MVK) resulting in deficient activity of the mevalonate kinase enzyme [3, 4]. Until the discovery of the MVK gene as underlying HIDS, the presence of a high level of serum IgD was necessary to establish the diagnosis of HIDS, but since, several cases of HIDS with MVK mutations and normal IgD serum levels have been described [3, 5]. On the other hand, Ammouri et al. [6] described 14 patients who had a recurrent fever syndrome with high level of IgD without MVK mutations and proposed to use the term of mevalonate kinase deficiency (MKD) for patients who have a biochemical deficiency of mevalonate kinase and MVK mutations and the term HIDS for the group of patients who have a recurrent fever syndrome and an elevated IgD concentration. A wide variety of immunomodulatory drugs was tried to treat and prevent attacks in these patients, including colchicine, steroids, and nonsteroidal anti-inflammatory drugs. Anakinra, a IL-1 receptor antagonist, has also been tested in a small number of patients [7–9]. We are reporting a case of HIDS in an 8-year-old girl treated with canakinumab, a newer IL-1 receptor antagonist, with an excellent response. 2. Case Presentation An 8-year-old girl of central Greek ancestry was admitted to the hospital because of periodic fever spikes, which occurred every 3-4 weeks and
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