Autoinflammatory diseases
What are auto-inflammatory diseases?

GENETIC PHENOTYPES
Acronyme*   OMIM Locus Transmission Disease**   OMIM Other names
NLRP3 NLR pyrin domain containing protein 3 606416 1q44 Dominant CINCA Chronic Infantile Neurological Cutaneous and Articular Syndrome 607115 CAPS3
NOMID		 CIAS1 associated periodic syndrome 3
Neonatal Onset Multisystem Inflammatory Disease
NLRP3 NLR pyrin domain containing protein 3 606416 1q44 Dominant DFNA34 Deafness, autosomal dominant 34, with or without inflammation 617772    
NLRP3 NLR pyrin domain containing protein 3 606416 1q44 Dominant FCAS1 Familial Cold Autoinflammatory Syndrome 1 120100 CAPS1
FCU		 CIAS1 associated periodic syndrome 1
Familial cold urticaria
NLRP3 NLR pyrin domain containing protein 3 606416 1q44 Dominant KEFH Keratoendothelitis fugax hereditaria 148200    
NLRP3 NLR pyrin domain containing protein 3 606416 1q44 Dominant MWS Muckle-Wells Syndrome 191900 CAPS2 CIAS1 associated periodic syndrome 2
NLRP7 NLR pyrin domain containing protein 7 609661 19q13.42 Recessive HYDM1 Hydatidiform Mole, Recurrent, 1 231090 RHM
HYDM
CHM		 Recurrent hydatiform moles
Hydatidiform mole
Hydatidiform mole, complete
Gestational trophoblastic disease
NOD2 Nucleotide-binding oligomerization domain 2 605956 16q12.1 Dominant BLAUS Blau syndrome 186580 EOS Sarcoidosis, Early-Onset
JABS syndrome
NOD2 Nucleotide-binding oligomerization domain 2 605956 16q12.1 Multifactorial IBD1 Inflammatory bowel disease 1 266600 Crohn disease
OTULIN OTU deubiquitinase with linear linkage specificity 615712 5p15.2 Recessive AIPDS AutoInflammation, Panniculitis, and Dermatosis Syndrome 617099 ORAS OTULIN-Related Autoinflammatory Syndrome
Otulipenia
PLCG1 Phospholipase C, Gamma-1 172420 20q12 Dominant IDAA Immune Dysregulation, Autoimmunity, and Autoinflammation 620514 APLS Activating PLCG1 variant-associated syndrome
PLCG2 Phospholipase C, Gamma-2 600220 16q23.3 Dominant APLAID Autoinflammation, Antibody Deficiency, and Immune Dysregulation 614878   Autoinflammation, antibody deficiency, and immune dysregulation, PLCG2-associated
PLCG2 Phospholipase C, Gamma-2 600220 16q23.3 Dominant FCAS3 Familial Cold Autoinflammatory Syndrome 3 614468 PLAID

FACU		 Antibody Deficiency and Immune Dysregulation, PLCG2-associated
Familial Atypical Cold Urticaria
POMP Proteasome maturation protein 613386 13q12.3 Dominant PRAAS2 Proteasome-associated autoinflammatory syndrome 2 618048    
PSMA3 Proteasome Subunit, Alpha-Type, 3 176843 14q23.1 Recessive       CANDLE/PRASS
PSMB4 Proteasome Subunit, Beta-Type, 4 602177 1q21.3 Recessive PRAAS3 Proteasome-associated autoinflammatory syndrome 3 617591    
*Gene name as approved by HUGO **Disease name as approved by OMIM
 
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