Comparison of the Most Common Monogenetic Autoinflammatory Syndromes

Comparison of the Most Common Monogenetic Autoinflammatory Syndromes

SyndromeInheritanceAge at Onset (years)High-Risk Ethnic PopulationsDuration of Attack (days)Clinical FeaturesAmyloid RiskGeneProtein
FMFAutosomal recessive<20
(90% of
Jewish, Arab, Turkish, Armenian, Italian1–3Erysipelas-like rash, sterile peritonitis, monoarthritis, pleuritis+++MEFVPyrin
TRAPSAutosomal dominant
or de novo
(middle-age onset reported)
Any ethnic group>7Myalgias with overlying rash, conjunctivitis or periorbital edema, peritonitis, large joint arthritis++TNFRSF1ATNF receptor Type I
HIDSAutosomal recessive<1
(90% of patients)
Dutch, French, other European3–7Maculopapular rash, abdominal pain, polyarthritis, splenomegaly, cervical adenopathy, aphthous ulcersMVKMevalonate kinase
FCASAutosomal dominant<1
(95% of patients)
Mostly European<2Cold-induced urticaria, arthralgia, conjunctivitisCIAS1 (NLRP3)Cryopyrin
MWSAutosomal dominant<20Northern European2–3Urticarial rash, arthralgia/arthritis, conjunctivitis/episcleritis, sensorineural hearing loss++CIAS1 (NLRP3)Cryopyrin
NOMIDAutosomal dominant or de novo<1 (birth or early infancy)Any ethnic groupContinuousUrticaria-like rash, epiphyseal overgrowth, arthritis, contractures, conjunctivitis, uveitis, vision loss, hearing loss, hoarseness, chronic aseptic meningitis, hepatosplenomegaly+CIAS1 (NLRP3)Cryopyrin
PAPAAutosomal dominant<10Any ethnic groupVariablePyogenic sterile arthritis, pyoderma gangrenosum, cystic acneCD2BP1/PSTPIP1CD2-binding protein
BlauAutosomal dominant<3–5Any ethnic groupVariablePolyarthritis, tenosynovitis, anterior or panuveitis, granulomatous dermatitis+NOD2/
DIRAAutosomal recessive<4 weeksNewfoundland, Puerto Rico, Netherlands, LebanonAlmost continuousPustulosis, pathergy, sterile osteomyelitis, periostitis at ends of ribs/long bones, respiratory distress. Fever typically absentIL-1RNIL-1ra
DITRAAutosomal recessiveVariable (neonate to adult)Any ethnic groupVariable, days to weeksGeneralized pustular psoriasis (including palms, soles), high fever, arthralgia, glossitis, nail dystrophyIL36RNIL-36ra
CANDLEAutosomal recessiveBirth or infancyVarious ethnicities reportedVariable, frequent, or continuousFever, annular rash, lipodystrophy, lip swelling, aseptic meningitis, growth delay, episcleritis, conjunctivitis, cardiomyopathy, diarrhea, hepatomegaly, arthropathyPSMB8, and othersProteosome subunit B8
DADA2Autosomal recessiveVariable; childhoodUnknownVariableFever, livedo reticularis, early-onset vasculopathy (stroke and/or polyarteritis nodosa presentation), mild immunodeficiencyCECR1ADA2

CANDLE, Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature; DADA2, deficiency of adenosine deaminase 2; DIRA, deficiency of IL-1 receptor antagonist; DITRA, deficiency of IL-36 receptor antagonist; FCAS, familial cold autoinflammatory syndrome; FMF, familial Mediterranean fever; HIDS, hyperimmunoglobulin-D syndrome; MWS, Muckle Wells syndrome; NOMID, neonatal onset multisystem inflammatory disease (sometimes referred to as chronic infantile neurologic, cutaneous and articular syndrome, or CINCA); PAPA, pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome; TRAP, TNF-receptor-associated periodic syndrome.


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