A novel mutation of interleukin-1 receptor antagonist (IL1RN) in a DIRA patient from Turkey: Diagnosis and treatment

Özet

Autoinflammatory diseases can cause severe inflammation in bone andskin such as neonatal-onset multisystem inflammatory disease (NOMID),Majeed syndrome, interleukin-36 receptor antagonist deficiency (DITRA) anddeficiency of interleukin-1 (IL-1) receptor antagonist (DIRA) syndrome. Herewe report a five-year old boy who was admitted to the hospital with pustularskin lesions and fever in the first month of his life. Molecular analysis ofIL1RN gene revealed a single homozygous C nucleotide deletion at nucleotideposition 396 (p.Thr133Profs*118). The novel p.Thr133Profs*118 mutationfound in our study caused frameshift mutation and as a result, the respectiveprotein is most likely non-functional. The patient, who received a variety oftreatments for various preliminary diagnoses until the final diagnosis (DIRA),was treated with recombinant IL-1Ra, anakinra, and experienced significantclinical improvement.