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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