Autoinflammatory diseases
What are auto-inflammatory diseases?

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

AP1S3 Adaptor-related protein complex 1, sigma-3 subunit 615781 2q36.1       None yet    
C1NH Complement Component 1 Inhibitor 606860 11q12.1 Dominant HAE1 Angioedema, hereditary, type I 106100 HANE Angioneurotic Edema, Hereditary
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    
CECR1 Cat eye syndrome chromosome region, candidate 1 607575 22q11.2 Recessive PAN Polyarteritis nodosa, childhood-onset 615688 DADA2 Deficiency of adenosine deaminase 2
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
LPIN2 LIPIN 2 605519 18p11.31 Recessive Majeed syndrome 609628 Chronic Recurrent Multifocal Osteomyelitis, Congenital Dyserythropoietic Anemia, And Neutrophilic Dermatosis
MEFV MEditerranean FeVer 608107 16p13 Recessive FMF Familial Mediterranean Fever 249100 Polyserositis, Recurrent

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