World Journal of Clinical Pediatrics
Variants in this gene present with an autoinflammatory phenotype and are linked to tumor necrosis factor receptor associated periodic syndrome (TRAPS), an orphan monogenic autoinflammatory disease that can mimic systemic juvenile idiopathic arthritis (sJIA) and AID.
E. Alexeeva, Meiri Sh, Tatyana M. Shingarova et al.
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