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IL36RN mutation causing generalized pustular psoriasis in a Palestinian patient.

Yael Renert-Yuval1, Liran Horev, Sofia Babay

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Deficiency of interleukin-36 receptor antagonist (DITRA) is a rare autoinflammatory disease. A novel mutation in the IL36RN gene was identified in an Arab-Palestinian child with generalized pustular psoriasis, expanding the known mutation spectrum.

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Area of Science:

  • Genetics and immunology
  • Autoinflammatory diseases
  • Dermatology

Background:

  • Deficiency of interleukin-36 receptor antagonist (DITRA) is a rare autoinflammatory disorder.
  • Characterized by recurrent fevers and severe skin manifestations like pustular psoriasis.
  • The genetic basis and population-specific mutation spectrum of DITRA are not fully understood.

Observation:

  • A 6-year-old Arab-Palestinian boy presented with early-onset, persistent fever and generalized pustular rash.
  • Clinical presentation was consistent with generalized pustular psoriasis.
  • Genetic analysis revealed a homozygous nonsense mutation (c.28C>T; p.Arg10X) in the IL36RN gene.

Findings:

  • The identified mutation (c.28C>T) in the IL36RN gene is associated with DITRA.
  • This represents the first report of this specific mutation in a non-Japanese individual.
  • The patient showed clinical improvement with methotrexate and corticosteroid therapy.

Implications:

  • This finding expands the known mutation spectrum for DITRA in diverse populations.
  • Highlights the importance of genetic testing for IL36RN mutations in patients with severe pustular skin conditions.
  • Contributes to a better understanding of the genetic underpinnings of autoinflammatory disorders.