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Repeated Necrotizing Lymphadenitis with MEFV Gene Mutations
Yuta Yamamura1, Kengo Furuichi2, Tadashi Toyama1
1Department of Nephrology and Laboratory Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Japan.
Internal Medicine (Tokyo, Japan)
|September 13, 2021
Summary
Recurrent necrotizing lymphadenitis in a 36-year-old man was linked to mutations in the MEFV gene. Interleukin-18 levels were elevated, suggesting a role in this autoinflammatory condition.
Area of Science:
- Genetics
- Immunology
- Pathology
Background:
- Necrotizing lymphadenitis is a rare condition characterized by lymph node inflammation and tissue death.
- Autoinflammatory diseases involve dysregulation of the innate immune system, leading to recurrent inflammatory episodes.
- The Mediterranean fever gene (MEFV) is associated with autoinflammatory disorders like familial Mediterranean fever.
Observation:
- A 36-year-old male presented with recurrent episodes of fever and painful cervical lymphadenopathy.
- Pathological examination confirmed necrotizing lymphadenitis, with other causes excluded.
- The patient experienced four distinct episodes of this condition.
Findings:
- Genetic analysis revealed MEFV gene mutations: E148Q (homozygous), P369S, and R408Q.
- Elevated levels of interleukin-18 were observed in the patient.
- These specific MEFV mutations are implicated in the pathogenesis of recurrent necrotizing lymphadenitis.
Implications:
- This case highlights a potential link between MEFV gene mutations and recurrent necrotizing lymphadenitis.
- Understanding the role of MEFV mutations and IL-18 may lead to improved diagnostics and targeted therapies for similar autoinflammatory conditions.
- Further research is warranted to elucidate the precise mechanisms by which these mutations contribute to lymphadenitis.
