| Diseases of inflammasomes and related IL-1-family cytokines |
- Pyrin inflammasome
- Familial Mediterranean fever (FMF)
- Pyrin-associated autoinflammation with neutrophilic dermatosis (PAAND)
- Hyperimmunoglobulin D syndrome (HIDS)
- Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA)
- Hyperzincemia/hypercalprotectinemia (HZ/HC)
- Periodic fever, immunodeficiency, and thrombocytopenia (PFIT)
- Neonatal onset of pancytopenia, autoinflammation, rash, and episodes of hemophagocytic lymphohistiocytosis (NOCARH) syndrome
- NALP3/cryopyrin inflammasome
- Familial cold autoinflammatory syndrome (FCAS)
- Muckle-Wells syndrome (MWS)
- Neonatal-onset multisystem inflammatory disorder (NOMID)
- Majeed syndrome/lipin 2 (LPIN2)
- NLRC4 inflammasome
- Autoinflammation with infantile enterocolitis (AIFEC)
- NLRP12 inflammasome
- Familial cold autoinflammatory syndrome 2 (FCAS2)
- NLRP1 inflammasome
- Multiple self-healing palmoplantar carcinoma (MSPC)
- Familial keratosis lichenoides chronica (FKLC)
- NLRP1-associated autoinflammation with arthritis and dyskeratosis (NAIAD)
- AIM2 inflammasome (none described)
- Noncanonical inflammasome (none described)
- Deficiency of the IL-1 receptor antagonist (DIRA)
- Deficiency of the IL-36 receptor antagonist (DITRA)
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| Diseases of interferon production and signaling |
- Impaired degradation or processing of endogenous nucleic acids
- AGS1 – Three prime repair exonuclease 1 (TREX1)
- AGS2 – Ribonuclease H2 endonuclease complex subunit B (RNASEH2B)
- AGS3 – Ribonuclease H2 endonuclease complex subunit C (RNASEH2C)
- AGS4 – Ribonuclease H2 endonuclease complex subunit A (RNASEH2A)
- AGS5 – SAM domain and HD domain 1 (SAMHD1)
- AGS6 – Adenosine deaminase acting on RNA 1 (ADAR1)
- DNase II deficiency
- Polyribonucleotide nucleotidyltransferase 1 (PNPT1) – Polynucleotide phosphorylase (PNPase) deficiency
- Enhanced nucleic acid sensing
- Stimulator of interferon genes (STING) associated vasculopathy with onset in infancy (SAVI)
- AGS7 – Interferon-induced helicase C domain-containing protein 1 (IFIH1), encoding melanoma differentiation-associated protein 5 (MDA5)
- Proteasome dysfunction
- Chronic atypical neutrophilic dermatitis with lipodystrophy and elevated temperature (CANDLE) – Multiple genes
- Amplified interferon receptor signaling
- Ubiquitin-specific peptidase 18 (UPS18) – Pseudo-toxoplasmosis, other (syphilis), rubella, cytomegalovirus, herpes simplex virus (pseudo-TORCH) syndrome
- ISG15 ubiquitin-like modifier (ISG15)
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| Diseases of NFkB and/or TNF activity |
- Haploinsufficiency of A20/TNF-alpha-induced protein 3 (TNFAIP3)
- Nucleotide-binding oligomerization domain protein 2 (NOD2) – Blau syndrome
- NFkB essential modulator (NEMO)
- RELA haploinsufficiency
- Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache (ROSAH) syndrome
- Disorders of linear ubiquitination
- OTULIN-related autoinflammatory syndrome (ORAS; ie, otulipenia)
- Deficiency of linear ubiquitin chain assembly complex (LUBAC) – Heme-oxidized IRP2 ubiquitin ligase 1 (HOIL-1L), HOIL-1 interacting protein (HOIP)
- Vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic (VEXAS)
- Aberrant TNF activity
- TNF receptor-associated periodic syndrome (TRAPS)
- TNF receptor-associated periodic syndrome 11 (TRAPS11) – TNF receptor superfamily member 11A (TNFRSF11A)
- Deficiency of adenosine deaminase 2 (DADA2)
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| Autoinflammation mediated by miscellaneous mechanisms |
- Coatomer protein complex subunit alpha (COPA) syndrome
- PLCG2-associated antibody deficiency and immune dysregulation (PLAID)/autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID)
- Sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay (SIFD)
- Cleavage-resistant receptor-interacting serine/threonine kinase 1 (RIPK1) induced autoinflammatory (CRIA) syndrome
- Lyn kinase-associated vasculopathy and liver fibrosis (LAVLI)
- Disorders of complement activation
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