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<p>Behçet’s disease (BD) is a chronic inflammatory disorder characterized by recurrent oral aphthous ulcers, genital ulcers, skin lesions, and uveitis. Recent genetic studies have identified monogenic diseases with phenotypes resembling BD, including RELA<i>-</i>associated inflammatory disease (RAID), <i>Haploinsufficiency of A20</i> (HA20), and otulipenia. The <i>RelA</i> gene encodes the RELA protein, which is involved in the nuclear factor kappa B (NF-κB) signaling pathway that regulates the transcription of genes associated with cell survival, apoptosis, and immune responses. In RAID, dysfunction of the NF-κB pathway leads to reduced cell survival and symptoms of BD, such as recurrent fever, chronic mucocutaneous ulceration, arthralgia, and colitis. Herein, we report a pediatric patient who presented with recurrent, severe oral and genital ulcers from the age of five years and was diagnosed with RAID following a documented <i>RelA</i> gene mutation. The patient responded to a combination of corticosteroids, colchicine and methotrexate. RAID should be considered in the differential diagnosis of patients with early onset recurrent fever and mucosal ulcerations.</p>

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A Case-Based Literature Review of RELA Associated Inflammatory Diseases

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年1月27日

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  • Nihal Karaçayır,
  • Merve Yazol,
  • Emine Nur Sunar Yayla,
  • Pelin Esmeray Şenol,
  • Çisem Yıldız,
  • Nuran Belder,
  • Merve Kutlar,
  • Batuhan Küçükali,
  • Büşra Acun,
  • Deniz Gezgin Yıldırım,
  • Sevcan A. Bakkaloğlu

摘要

Behçet’s disease (BD) is a chronic inflammatory disorder characterized by recurrent oral aphthous ulcers, genital ulcers, skin lesions, and uveitis. Recent genetic studies have identified monogenic diseases with phenotypes resembling BD, including RELA-associated inflammatory disease (RAID), Haploinsufficiency of A20 (HA20), and otulipenia. The RelA gene encodes the RELA protein, which is involved in the nuclear factor kappa B (NF-κB) signaling pathway that regulates the transcription of genes associated with cell survival, apoptosis, and immune responses. In RAID, dysfunction of the NF-κB pathway leads to reduced cell survival and symptoms of BD, such as recurrent fever, chronic mucocutaneous ulceration, arthralgia, and colitis. Herein, we report a pediatric patient who presented with recurrent, severe oral and genital ulcers from the age of five years and was diagnosed with RAID following a documented RelA gene mutation. The patient responded to a combination of corticosteroids, colchicine and methotrexate. RAID should be considered in the differential diagnosis of patients with early onset recurrent fever and mucosal ulcerations.