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פאנלים
Periodic fever syndrome
GC_80
Last update: 07.01.2026
Hereditary periodic fever syndromes are autoinflammatory disorders characterized predominantly by recurrent episodes of fever and systemic inflammation without an infectious cause. Clinical manifestations may include serositis, rash, arthritis, abdominal pain, oral ulcers, lymphadenopathy, and elevated inflammatory markers during attacks.
This panel includes genes associated with the major hereditary periodic fever syndromes, including familial Mediterranean fever, mevalonate kinase deficiency, TNF receptor-associated periodic syndrome, cryopyrin-associated periodic syndromes, deficiency of the IL-1 receptor antagonist, and related monogenic autoinflammatory disorders.
This panel is recommended for patients with recurrent unexplained fever and systemic inflammation after exclusion of common infectious and malignant causes, particularly when the clinical pattern suggests a hereditary periodic fever syndrome.
ADA2, APOA1, APOA2, APOC2, APOC3, ASAH1, ELANE, F12, FGA, GSN, IL1RN, IL36RN, LPIN2, LYZ, MEFV, MVK, NLRC4, NLRP12, NLRP3, NOD2, OSMR, OTULIN, POMP, PSMA3, PSMB4, PSMB8, PSMG2, PSTPIP1, SCO2, TNFAIP3, TNFRSF1A, TRNT1, TTR
ClinVar P/LP variants (IDs) not covered: IL1RN:[14674]



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