Literature DB >> 25721923

Treatment of hyperimmunoglobulinemia D syndrome with biologics in children: review of the literature and Finnish experience.

Svetlana Kostjukovits1, Liisa Kalliokoski, Kaisu Antila, Matti Korppi.   

Abstract

UNLABELLED: Hyperimmunoglobulinemia D syndrome (HIDS) is an autoinflammatory disorder that is caused by mevalonate kinase deficiency (MKD). Recent advances in the pathogenesis of MKD, including the proposed mechanisms of inflammasome activation, provide the basis for the development of new treatment modalities. So far, feedback on the treatment of HIDS with biological medicines has come from case reports with limited numbers of patients. In this review, we summarize the data that is currently available on the treatment of HIDS in children, with the emphasis on new therapies, and present three Finnish pediatric cases treated with anakinra. Case reports have been published on 33 pediatric HIDS patients who have been treated with biological medicines, and in some cases, they were treated with more than one drug. Of these patients, 21 were treated with anakinra and 16 with etanercept, resulting in complete or partial responses in 90 and 50% of cases, respectively. A further five patients were treated with canakinumab, with complete or partial responses.
CONCLUSION: The accumulating evidence on the efficacy and safety of biological drugs in pediatric HIDS suggests that the anti-interleukin-1 agent anakinra is the drug of choice for HIDS in children. WHAT IS KNOWN: • Various biologic drugs have been tried for the treatment of HIDS. What is New: • Based on the 90% response rate, anakinra seems to be the drug of choice for HIDS in children.

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Year:  2015        PMID: 25721923     DOI: 10.1007/s00431-015-2505-9

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  51 in total

1.  The inhibition of mevalonate pathway induces upregulation of NALP3 expression: new insight in the pathogenesis of mevalonate kinase deficiency.

Authors:  Alessandra Pontillo; Elisa Paoluzzi; Sergio Crovella
Journal:  Eur J Hum Genet       Date:  2010-02-24       Impact factor: 4.246

2.  Inefficacy of etanercept in a child with hyper-IgD syndrome and periodic fever.

Authors:  F Marchetti; E Barbi; A Tommasini; C Oretti; A Ventura
Journal:  Clin Exp Rheumatol       Date:  2004 Nov-Dec       Impact factor: 4.473

3.  Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome.

Authors:  Joost Frenkel; Ger T Rijkers; Saskia H L Mandey; Sandra W M Buurman; Sander M Houten; Ronald J A Wanders; Hans R Waterham; Wietse Kuis
Journal:  Arthritis Rheum       Date:  2002-10

4.  Interleukin-1β-regulating antibody XOMA 052 (gevokizumab) in the treatment of acute exacerbations of resistant uveitis of Behcet's disease: an open-label pilot study.

Authors:  Ahmet Gül; Ilknur Tugal-Tutkun; Charles A Dinarello; Leonid Reznikov; Bahar Artim Esen; Amer Mirza; Patrick Scannon; Alan Solinger
Journal:  Ann Rheum Dis       Date:  2011-11-14       Impact factor: 19.103

5.  A role for geranylgeranylation in interleukin-1beta secretion.

Authors:  Saskia H L Mandey; Loes M Kuijk; Joost Frenkel; Hans R Waterham
Journal:  Arthritis Rheum       Date:  2006-11

6.  Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome.

Authors:  Jeroen C H van der Hilst; Evelien J Bodar; Karyl S Barron; Joost Frenkel; Joost P H Drenth; Jos W M van der Meer; Anna Simon
Journal:  Medicine (Baltimore)       Date:  2008-11       Impact factor: 1.889

7.  Periodic fever in MVK deficiency: a patient initially diagnosed with incomplete Kawasaki disease.

Authors:  Valtyr S Thors; Sebastiaan J Vastert; Nico Wulffraat; Annet van Royen; Joost Frenkel; Monique de Sain-van der Velden; Tom J de Koning
Journal:  Pediatrics       Date:  2014-01-27       Impact factor: 7.124

8.  Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome.

Authors:  Kazuki Takada; Ivona Aksentijevich; Vijayabhanu Mahadevan; Jane A Dean; Richard I Kelley; Daniel L Kastner
Journal:  Arthritis Rheum       Date:  2003-09

9.  Neonatal hepatitis as first manifestation of hyperimmunoglobulinemia d syndrome.

Authors:  Marie-Louise von Linstow; Vibeke Rosenfeldt
Journal:  Case Rep Pediatr       Date:  2014-03-03

10.  First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunoglobulinemia D with periodic fever syndrome.

Authors:  Laura Obici; Carlo Manno; Andrea Onetti Muda; Paolo Picco; Andrea D'Osualdo; Giovanni Palladini; Maria Antonietta Avanzini; Diletta Torres; Sabrina Marciano; Giampaolo Merlini
Journal:  Arthritis Rheum       Date:  2004-09
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  14 in total

Review 1.  Monogenic Periodic Fever Syndromes: Treatment Options for the Pediatric Patient.

Authors:  Seza Ozen; Selcan Demir
Journal:  Paediatr Drugs       Date:  2017-08       Impact factor: 3.022

Review 2.  Targeting the inflammasome in rheumatic diseases.

Authors:  Sara S McCoy; Jasmine Stannard; J Michelle Kahlenberg
Journal:  Transl Res       Date:  2015-06-11       Impact factor: 7.012

3.  Hyperimmunoglobulinaemia D syndrome: a rare cause of prolonged fever and treatment with anti-interleukin 1 agent.

Authors:  Deniz Aygun; Sezgin Sahin; Haluk Cokugras; Ozgur Kasapcopur
Journal:  BMJ Case Rep       Date:  2016-05-17

4.  Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency.

Authors:  Cécile-Audrey Durel; Achille Aouba; Boris Bienvenu; Samuel Deshayes; Brigitte Coppéré; Bruno Gombert; Cécile Acquaviva-Bourdain; Eric Hachulla; Frédéric Lecomte; Isabelle Touitou; Jacques Ninet; Jean-Baptiste Philit; Laurent Messer; Marc Brouillard; Marie-Hélène Girard-Madoux; Michel Moutschen; Nadia Raison-Peyron; Pascal Hutin; Pierre Duffau; Pierre Trolliet; Pierre-Yves Hatron; Philippe Heudier; Ramiro Cevallos; Thierry Lequerré; Valentine Brousse; Vincent Lesire; Sylvain Audia; Delphine Maucort-Boulch; Laurence Cuisset; Arnaud Hot
Journal:  Medicine (Baltimore)       Date:  2016-03       Impact factor: 1.889

Review 5.  Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra.

Authors:  Skaiste Peciuliene; Birute Burnyte; Rymanta Gudaitiene; Skirmante Rusoniene; Nijole Drazdiene; Arunas Liubsys; Algirdas Utkus
Journal:  Pediatr Rheumatol Online J       Date:  2016-03-25       Impact factor: 3.054

6.  A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness.

Authors:  Tiziana Coppola; Bradford Becken; Heather Van Mater; Marie Theresa McDonald; Gabriela Maradiaga Panayotti
Journal:  BMC Pediatr       Date:  2019-07-20       Impact factor: 2.125

Review 7.  Natural history of mevalonate kinase deficiency: a literature review.

Authors:  Shumin Zhang
Journal:  Pediatr Rheumatol Online J       Date:  2016-05-04       Impact factor: 3.054

8.  Anti-inflammatory and cytoprotective effects of a squalene synthase inhibitor, TAK-475 active metabolite-I, in immune cells simulating mevalonate kinase deficiency (MKD)-like condition.

Authors:  Nobutaka Suzuki; Tatsuo Ito; Hisanori Matsui; Masayuki Takizawa
Journal:  Springerplus       Date:  2016-08-30

9.  Consensus protocols for the diagnosis and management of the hereditary autoinflammatory syndromes CAPS, TRAPS and MKD/HIDS: a German PRO-KIND initiative.

Authors:  Sandra Hansmann; Elke Lainka; Gerd Horneff; Dirk Holzinger; Nikolaus Rieber; Annette F Jansson; Angela Rösen-Wolff; Gabi Erbis; Martina Prelog; Juergen Brunner; Susanne M Benseler; Jasmin B Kuemmerle-Deschner
Journal:  Pediatr Rheumatol Online J       Date:  2020-02-17       Impact factor: 3.054

Review 10.  The off-label use of anakinra in pediatric systemic autoinflammatory diseases.

Authors:  Valerio Maniscalco; Sarah Abu-Rumeileh; Maria Vincenza Mastrolia; Edoardo Marrani; Ilaria Maccora; Ilaria Pagnini; Gabriele Simonini
Journal:  Ther Adv Musculoskelet Dis       Date:  2020-10-16       Impact factor: 5.346

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