Interleukin-36 receptor antagonist deficiency patient with a novel mutation

Sezer M., AYDIN F., Özaydın E., Çelikel E., Yorulmaz A., KARAKUŞ R., ...Daha Fazla

Archives de Pediatrie, cilt.33, sa.2, 2026 (SCI-Expanded, Scopus) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 33 Sayı: 2
  • Basım Tarihi: 2026
  • Doi Numarası: 10.1016/j.arcped.2025.12.005
  • Dergi Adı: Archives de Pediatrie
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, EMBASE, MEDLINE
  • Anahtar Kelimeler: Autoinflammatory disorder, Deficiency of interleukin-36 receptor antagonist, DITRA, generalized pustular psoriasis, TNF-α inhibitors
  • Ankara Üniversitesi Adresli: Evet

Özet

Background The deficiency of interleukin-36 receptor antagonist (DITRA) is a monogenic autoinflammatory condition associated with generalized pustular psoriasis (GPP). Diagnostic criteria and treatment recommendations for DITRA are inadequate. The diagnosis is established by detecting a biallelic loss-of-function mutation in IL36RN, which leads to activation of the IL36 pathway. Observation and discussion We present a pediatric case of GPP with a novel IL36RN mutation that supports the diagnosis of DITRA. In patients with DITRA unresponsive to IL-1 targeted therapies, favorable results may be achieved with the administration of TNF-α inhibitors, particularly IL-36 pathway inhibitors. Twenty-nine papers, encompassing 55 pediatric cases, were synthesized to contextualize treatment responses. Conclusion Novel DITRA-associated mutations continue to be discovered. Given the rarity of the disease, it will be possible to reveal the genotype-phenotype relationship in the future with the publication of larger DITRA case series.