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
IKBKG Inhibitor of nuclear factor kappa B kinase regulatory subunit gamma 300248 Xq28 X-linked       NEMO-NDAS NEMOΔ5-associatedautoinflammatorysyndrome
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

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