A Case-Based Literature Review of RELA Associated Inflammatory Diseases
JOURNAL OF CLINICAL IMMUNOLOGY, cilt.46, sa.1, 2026 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Derleme
- Cilt numarası: 46 Sayı: 1
- Basım Tarihi: 2026
- Doi Numarası: 10.1007/s10875-025-01968-x
- Dergi Adı: JOURNAL OF CLINICAL IMMUNOLOGY
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, EMBASE, MEDLINE
- Gazi Üniversitesi Adresli: Evet
Özet
Beh & ccedil;et'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-kappa B) signaling pathway that regulates the transcription of genes associated with cell survival, apoptosis, and immune responses. In RAID, dysfunction of the NF-kappa B 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.