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Letter
High-dose ustekinumab for severe childhood deficiency of interleukin-36 receptor antagonist (DITRA)
  1. Nadia Bonekamp1,
  2. Roberta Caorsi2,
  3. Gian Maria Viglizzo3,
  4. Marlies de Graaf4,
  5. Francesca Minoia2,
  6. Alice Grossi5,
  7. Paolo Picco2,
  8. Isabella Ceccherini5,
  9. Joost Frenkel1,
  10. Marco Gattorno2
  1. 1 Department of Pediatrics, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, The Netherlands
  2. 2 Rheumatology Unit, G Gaslini Institute, Genoa, Italy
  3. 3 Dermatology Service, G Gaslini Institute, Genoa, Italy
  4. 4 Department of Dermatology, University Medical Center Utrecht, Utrecht, The Netherlands
  5. 5 UOC Medical Genetics, G Gaslini Institute, Genoa, Italy
  1. Correspondence to Dr Marco Gattorno, UO Pediatria 2, G Gaslini Institute, Largo G Gaslini 5, Genova, Italy; marcogattorno@gaslini.org

https://doi.org/10.1136/annrheumdis-2017-211805

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    Deficiency of the interleukin-36 receptor antagonist (DITRA) is an autosomal recessive disease caused by mutations of IL36RN gene.1 Patients suffer from flares of acute generalised pustular psoriasis and systemic inflammation. We present two paediatric cases of DITRA with a severe clinical course, resistant to multiple therapies in whom the use of high doses of ustekinumab (a monoclonal antibody against the p40 subunit of both IL-12 and IL-23) lead to a persistent control of the disease.

    Case 1

    A 4-year-old boy, born from unrelated parents, presented at the age of 3 years with inverse psoriasis in the genital area. After some months, he developed diffuse pustular lesions associated with fever, elevation of acute phase reactants and poor general condition, requiring parenteral antibiotics and high-dose steroids (figure 1). Compound heterozygosity for the IL36RN P76L/S113L mutations was detected. Different treatments (acitretin, high-dose ciclosporin, …

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    Footnotes

    • NB and RC contributed equally.

    • JF and MG contributed equally.

    • Contributors NB, RC, JF and MG analysed the data and wrote the manuscript. GMV, MdG, FM and PP followed the patient, collected the data and approved the manuscript. AG and IC performed the genetic analysis and approved the manuscript.

    • Competing interests None declared.

    • Patient consent Guardian consent.

    • Ethics approval G Gaslini IRCCS Ethics Board.

    • Provenance and peer review Not commissioned; externally peer reviewed.