Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis - CISMeF
Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosisOMIM Phenotype
Preferred Label : Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis;
Symbol : CRMO2;
CISMeF acronym : DIRA; OMPP;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : DIRA; Interleukin 1 receptor antagonist deficiency; OMPP; Osteomyelitis, sterile multifocal, with periostitis and pustulosis;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the interleukin-1 receptor antagonist gene (IL1RN, 147679.0002);
Laboratory abnormalities : Marked elevation of erythrocyte sedimentation rate; Marked elevation of serum C-reactive protein level (CRP 123260);