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 Dominant PSORS15 Psoriasis 15, pustular, susceptibility to 616106 GPP Generalized pustular psoriasis
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 IMD108 Immunodeficiency 108 with autoinflammation 260570 Pelger-Huet-like anomaly and episodic fever with abdominal pain
COPA COPI coat complex subunit alpha 601924 1q23.2 Dominant AILJK Autoimmune interstitial lung, joint, and kidney disease 616414    
ELF4 E74 like ETS transcription factor 4 300775 Xq26.1 X-linked recessive AIFBL2 Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 301074 DEX Deficiency in ELF4, X-linked
F12 Coagulation Factor XII 610619 5q35.3 Dominant       FACAS Factor XII-associated cold autoinflammatory syndrome
HCK HCK proto-oncogene, Src family tyrosine kinase 142370 20q11.21 Dominant AIPCV Autoinflammation with pulmonary and cutaneous vasculitis 620296    
IKBKG Inhibitor of nuclear factor kappa B kinase regulatory subunit gamma 300248 Xq28 X-linked SAIDX Autoinflammatory disease, systemic, X-linked 301081 NEMO-NDAS NEMOΔ5-associated autoinflammatory syndrome
IL1R1 Interleukin 1 receptor type 1 147810 2q11.2-q12.1 Dominant CRMO3 Chronic recurrent multifocal osteomyelitis 3 259680 CMO
LIRSA		 Osteomyelitis, chronic multifocal
Loss of IL1R1 Sensitivity to IL1RA (IL1RN)
IL1RN Interleukin 1 receptor antagonist 147679 2q13 Recessive CRMO2 Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis 612852 OMPP

DIRA		 Deficiency of Interleukin 1 Receptor Antagonist
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
*Gene name as approved by HUGO **Disease name as approved by OMIM
 
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