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Interleukin 1 blockade withcanakinumab for Hyper IGD syndrome (HIDS)

Introduction and question

Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS; MIM# 260920) is a rare autosomal recessive autoinflammatory condition caused by mutations in the MVK gene, which encodes for mevalonate kinase. There is no standard treatment for HIDS. Therefore new therapeutic options might be developed.

Methods and results of this case report

We report on a 2 year-old Austrian boy with recurrent episodes of fever, febrile seizures, arthralgias, and splenomegaly. Rash and abdominal pain were also seen occasionally. During attacks an acute-phase response was detected. Clinical and laboratory improvement was seen between attacks. These findings led to the tentative diagnosis of HIDS. Sequencing of the MVK gene showed a homozygous c.1129G>A (p.Val377Ile, also known as V377I) mutation in the child, while the healthy non-consanguineous parents were heterozygous. The mutation is known to be associated with HIDS.

Therapy with nonsteroidal anti-inflammatory drugs during attacks had poor benefit. A further febrile episode resulted in a status epilepticus. Treatment with canakinumab was initiated and a final dose of 4 mg/kg every 4 weeks resulted in the disappearance of febrile attacks and a considerable improvement of patient's quality of life during a 6-month follow-up period. The drug has been well tolerated, and no side effects were observed.


Treatment with canakinumab is a therapeutical option for patients with HIDS.

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Written informated consent for publication of their clinical details was obtained from the patient/parent/guardian/relative of the patient.

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This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.

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Brunnner, J., Binder, E., Karall, D. et al. Interleukin 1 blockade withcanakinumab for Hyper IGD syndrome (HIDS). Pediatr Rheumatol 13 (Suppl 1), P206 (2015).

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