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T cells | 0 | normal or increased (oligoclonal) | moderately decreased | normal (gd oligoclonal) |
B cells | 0 | 0 or profoundly decreased | profoundly decreased to normal | moderately decreased to normal |
RAG1 mutation consequences | null | hypomorphic | hypomorphic | hypomorphic |
associated factors | - | ? | ? | HHV-5
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hyper-IgM | ? | +/= | - | - | = |
hyper-IgE | ? | = | = | = | + |
Omenn's syndrome | + | ||||
CVID | ? | - | - | - | - |
IgAD | ? | ? | ? | - | ? |
IgG deficiency | = | = | - | = | = |
liver
cirrhosis![]() |
? | ? | ? | + | ? |
THI | ? | -/= | - | -/= | ? |
HIDS | + | IgA1 + | + | ||
WAS | + | + |
hereditary periodic fever syndromes / hereditary autoinflammatory disorders are a group of systemic disorders characterized by recurrent attacks of systemic inflammation (autoinflammation) without infectious or autoimmune cause, resulting from a defect of the innate immune responseref (Kastner DL, Aksentijevich I. Intermittent and periodic arthritis syndromes. In: Koopman WJ, Moreland LW, eds. Arthritis and Allied Conditions (15th ed). Philadelphia: Lippincott Williams and Wilkins; 2005:1411–1461), initially described as affecting primarily the serosal and synovial surfaces and the skin, but now recognized to include a somewhat broader distribution of affected tissues. The hereditary periodic fevers differ from autoimmune diseases such as systemic lupus erythematosus and rheumatoid arthritis in that they lack high-titer autoantibodies or antigen-specific T-cells; they are termed autoinflammatory diseases to highlight this distinction
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usual ethnicity | Turkish, Armenian, Arab, Jewish, Italian | any ethnicity | Dutch, other Northern European | mostly European | mostly European | any ethnicity |
duration of attacks | 12-72 hours | days to weeks | 3-7 days | 12-24 hours | 2-3 days | continuous, with flares |
abdominal | sterile peritonitis, constipation | peritonitis, diarrhea, or constipation | severe pain, vomiting, diarrhea, rarely peritonitis | nausea | abdominal pain | not common |
pleural | common | common | rare | not seen | rare | rare |
arthropathy | monoarthritis, rarely protracted arthritis in knee or hip | arthritis in large joints, arthralgia | arthralgia, symmetric polyarthritis | |||
polyarthralgia | polyarthralgia, oligoarthritis, clubbig | epiphyseal overgrowth, contractures, intermittent or chronic arthritis, clubbing | ||||
cutaneous | erysipeloid erythema on lower leg, ankle, foot | migratory rash, underlying myalgia | diffuse maculopapular rash, urticaria | cold-induced urticarial rash | urticaria-like rash | urticaria-like rash |
ocular | rare | conjunctivitis, periorbital edema | uncommon | conjunctivitis | conjunctivitis, episcleritis | uveitis, conjunctivitis, progressive vision loss |
neurologic | rarely aseptic meningitis | controversial | headache | headache | sensorineural deafness | sensorineural deafness, chronic aseptic meningitis, mental retardation, headache |
lymphatic | splenomegaly, occasional lymphadenopathy | splenomegaly, occasional lymphadenopathy | cervical adenopathy in children | not seen | rare | hepatosplenomegaly, adenopathy |
vasculitis | Henoch-Schonlein purpura (HSP), polyarteritis nodosa | HSP, lymphocytic vasculitis | cutaneous vasculitis common, rarely HSP | not seen | not seen | occasional |
systemic amyloidosis | risk depends on MEFV and SAA genotypes; more common in Middle East | occurs in 10%; risk increased with cysteine mutations | rare | rare | occurs in 25% | may develop in some patients, usually in adulthood |
Web resources : Infevers database was established in 2002 to provide investigators with access to a central source of information about all sequence variants associated with periodic fevers. Currently, the database contains 291 sequence variants in related genes (MEFV, TNFRSF1A, MVK, CARD15, PSTPIP1, and CIAS1), consisting of published data and personal communications, which has revealed or refined the preferential mutational sites for each generef
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