Phenotype and cytokine profile in a TRAPS Syndrome family with TNFRSF1A p.(Thr79Met): Association with sacro-iliitis - 21/09/22
, Adriana Delwail f, Laurence Cuisset g , Jean-Claude Lecron h, d, Elisabeth Gervais c, d, hHighlights |
• | This study is the first report of sacro-iliitis in a patient examined for TRAPS with pathogenic variant. |
• | While this study shows increased serum IgD level in remission periods in TRAPS patients, it remains normal in SA patients. |
Abstract |
Objective |
A comparative retrospective and analytic study was performed in 13 members of a family, affected or not by tumor necrosis factor TNF-α receptor-associated periodic syndrome (TRAPS), including one patient with sacro-illitis.
Methods |
Clinical features and TNFRSF1A gene analysis were reported for each family member, symptomatic or asymptomatic. Biological features including CRP/SAA, IgD and ex vivo T lymphocytes and myeloid-derived cytokine profile (IL1-β, IL-1α, IL-1ra, IL-4, IL-10, IL-17, IFN-γ, TNF-α, IL-6) were characterized for all family members. CRP and IgD only were compared with those of 13 axial SA patients with TNF-blockade indication.
Results |
Symptomatic TRAPS patients presented p.(Thr79Met) variant and generally complained of abdominal pain. They displayed higher SAA/IgD levels and IL-6/IL-1RA/IL-10 production by PBMC compared to asymptomatic family members. IgD serum level was higher in symptomatic members compared to SA patients. The patient with sacro-iliitis displayed the highest cytokine production and IgD serum levels.
Conclusion |
This study describes clinical heterogeneity in a family examined for TRAPS syndrome and reports the first sacro-iliitis in a patient with pathogenic TNFRSF1A variant. Dysregulated PBMC-derived cytokine and Il-10/IgD dysregulation in the patient with sacro-iliitis raises the issue of sacro-iliitis pathophysiology.
Le texte complet de cet article est disponible en PDF.Keywords : TRAPS, Cytokine profile, Sacro-iliitis, Spondyloarthritis
Plan
Vol 89 - N° 5
Article 105411- octobre 2022 Retour au numéro
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