Autoinflammatory diseases
What are auto-inflammatory diseases?

GENETIC PHENOTYPES
Acronyme*   OMIM Locus Transmission Disease**   OMIM Other names

ADA2 Adenosine Deamiase 2 607575 22q11.2 Recessive VAIHS Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic defects Syndrome 615688 PAN
DADA2
Polyarteritis nodosa, childhood-onset
Deficiency of adenosine deaminase 2
AP1S3 Adaptor-related protein complex 1, sigma-3 subunit 615781 2q36.1   PSORS15 Psoriasis 15, pustular, susceptibility to 616106    
CARD14 Caspase recruitment domain-containing protein 14 607211 17q25.3 Dominant PSORS2 Psoriasis susceptibility 2 602723    
CARD14 Caspase recruitment domain-containing protein 14 607211 17q25.3 Dominant PRP Pityriasis rubra pilaris 173200    
CDC42 Cell division cycle 42 116952 1p36.12 Dominant       CDC42-AID CDC42 associated autoinflammatory disease
IL10 Interleukin 10 124092 1q32.1 Recessive       IL10D Interleukine 10 deficiency
IL10RA Interleukin 10 receptor, alpha 146933 11q23.3 Recessive IBD28 Inflammatory bowel disease 28 613148 IL10R1D Interleukin 10 receptor A deficiency
IL10RB Interleukin 10 receptor, beta 123889 21q22.11 Recessive IBD25 Inflammatory bowel disease 25 612567 IL10R2D Interleukin 10 receptor B deficiency
IL1RN Interleukin 1 receptor antagonist 147679 2q13 Recessive OMPP Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis 612852 DIRA Deficiency of Interleukin 1 Receptor Antagonist
IL36RN Interleukin 36 receptor antagonist 605507 2q13 Recessive PSORP Pustular Psoriasis, Generalized 614204 DITRA Deficiency of Interleukin 36 Receptor Antagonist
LACC1 Laccase (multicopper reductase) domain-containing protein 1 613409 13q14.11 Recessive   None yet  
LPIN2 LIPIN 2 605519 18p11.31 Recessive MJDS Majeed syndrome 609628 Chronic Recurrent Multifocal Osteomyelitis, Congenital Dyserythropoietic Anemia, And Neutrophilic Dermatosis
MEFV MEditerranean FeVer 608107 16p13.3 Recessive FMF Familial Mediterranean Fever 249100 Polyserositis, Recurrent
MVK Mevalonate Kinase 251170 12q24.11 Recessive HIDS Hyper IgD Syndrome 260920 Periodic Fever, Dutch Type
MVK Mevalonate Kinase 251170 12q24.11 Recessive MEVA Mevalonic Aciduria 610377  
MVK Mevalonate Kinase 251170 12q24.11 Dominant POROK3 Porokeratosis 3, Disseminated Superficial Actinic Type 175900 DSAP Disseminated Superficial Actinic Porokeratosis

*Gene name as approved by HUGO **Disease name as approved by OMIM
 
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