Interleukin-36 receptor antagonist deficiency patient with a novel mutation
ARCHIVES DE PEDIATRIE, cilt.33, sa.2, 2026 (SCI-Expanded, Scopus)
- 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, Academic Search Ultimate (EBSCO)
- Gazi 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-alpha 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.