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
ADAM17 ADAM metallopeptidase domain 17 603639 2p251 Recessive NISBD1 Inflammatory skin and bowel disease, neonatal, 1 614328    
ALPK1 Alpha kinase 1 607347 4q25 Dominant ROSAH Retinal dystrophy, Optic nerve edema, Splenomegaly, Anhidrosis, and migraine Headache syndrome 614979    
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
CEBPE CCAAT enhancer binding protein epsilon 600749 14q11.2 Recessive SGD1 Specific granule deficiency 1 245480    
COPA COPI coat complex subunit alpha 601924 1q23.2 Dominant     None yet
ELF4 E74 like ETS transcription factor 4 300775 Xq26.1 X-linked recessive AIFBL2 Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 301074    
F12 Coagulation Factor XII 610619 5q35.3 Dominant       FACAS Factor XII-associated cold autoinflammatory syndrome
IKBKG Inhibitor of nuclear factor kappa B kinase regulatory subunit gamma 300248 Xq28 X-linked       NEMO-NDAS NEMOΔ5-associated autoinflammatory syndrome
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 JUVAR Juvenile Arthritis 618795  
LPIN2 LIPIN 2 605519 18p11.31 Recessive MJDS Majeed syndrome 609628 Chronic Recurrent Multifocal Osteomyelitis, Congenital Dyserythropoietic Anemia, And Neutrophilic Dermatosis
*Gene name as approved by HUGO **Disease name as approved by OMIM
 
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