Those affected with DIRA have inherited (via autosomal recessive manner) mutations in IL1RN,[3][5] a gene that encodes a protein known as interleukin 1 receptor antagonist,[6][3]
The cytogenetic location of IL1RN is 2q14.1, while its 2:113,099,364-113,134,015 are the genomic coordinates.[5]
The mechanism of deficiency of the interleukin-1–receptor antagonist affects the normal function of IL1RN gene. The protein produced by IL1RN gene prevents the normal activities of interleukin 1(alpha) and interleukin 1(beta). Therefore, the pathophysiologic immune and inflammatory responses are nullified.[5][6] Interleukin 1 receptor antagonist (IL1RN) has a total of five alleles, of those the (IL1RN*1) and (IL1RN*2) are the most common as the other alleles are seen less than 5 percent.[5]
IL-1RN binds to the same cell receptors as the inflammatory protein IL-1, and blocks its inflammatory actions. Without IL-1Ra, the body cannot control systemic inflammation that can be caused by IL-1.[7]
Diagnosis
Those affected with deficiency of the interleukin-1–receptor antagonist can have diagnosis achieved via noting an increase of erythrocyte sedimentation rate, as well as the following:[8][5]
In terms of treatment a 2013 review indicates that colchicine can be used for DIRA.[9] Additionally there are several other management options such as anakinra, which blocks naturally occurring IL-1.[10][11]
