title: Anti-interleukin 6 receptor therapy for hyper-IgD syndrome.
abstract: Hyper-IgD syndrome (HIDS) is a rare, severe hereditary autoinflammatory disease characterised by periodic fevers, elevated serum IgD levels and a wide range of symptoms. Although a few randomised controlled trials have been performed in this disorder, there are no straightforward treatment protocols and none of the potential therapies are registered for this indication. We report a case of a young woman with severe HIDS who failed numerous therapies. Eventually, rational treatment with a monoclonal anti-interleukin 6 receptor antibody was initiated. This therapy resulted in an impressive clinical improvement and reduction in the number of hospital admissions per year. This case report underlines the difficulty of finding a suitable treatment for rare, severe inflammatory diseases. Furthermore, we show that treating patients with targeted therapies may result in clinical benefit for the patient, as well as simultaneously teach us more about the pathophysiology of these rare, relatively understudied diseases.
authors.affiliation: Department of Clinical Immunology and Rheumatology, Academic Medical Center/University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Anne
authors.initials: A
authors.lastname: Musters
authors.affiliation: Department of Clinical Immunology and Rheumatology, Academic Medical Center/University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Paul Peter
authors.initials: PP
authors.lastname: Tak
authors.affiliation: Department of Clinical Immunology and Rheumatology, Academic Medical Center/University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Dominique L P
authors.initials: DL
authors.lastname: Baeten
authors.affiliation: Department of Clinical Immunology and Rheumatology, Academic Medical Center/University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Sander W
authors.initials: SW
authors.lastname: Tas
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D006942:Hypergammaglobulinemia / Q000188:drug therapy*; D007072:Immunoglobulin D; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use*; D056687:Off-Label Use; D019947:Receptors, Interleukin-6 / Q000037:antagonists & inhibitors*; D016896:Treatment Outcome
chemical_list: D007072:Immunoglobulin D; D053590:Interleukin 1 Receptor Antagonist Protein; D019947:Receptors, Interleukin-6