The Turkish Journal of Pediatrics 2018 , Vol 60 , Num 5
A novel mutation of interleukin-1 receptor antagonist (IL1RN) in a DIRA patient from Turkey: Diagnosis and treatment
Betül Sözeri 1 ,Bengü Gerçeker-Türk 2 ,Başak Yıldız-Atıkan 3 ,Sevgi Mir 4 ,Afig Berdeli 4-5
1 1Division Pediatric Rheumatology, Health Sciences University, Istanbul Umraniye Education and Research Hospital Istanbul, Turkey
2 Departments of Dermatology, Ege University Faculty of Medicine, Izmir, Turkey
3 Departments of Pediatric Infectious Diseases, Ege University Faculty of Medicine, Izmir, Turkey
4 Departments of Pediatric Rheumatology, Ege University Faculty of Medicine, Izmir, Turkey
5 Departments of Molecular Genetics, Ege University Faculty of Medicine, Izmir, Turkey
DOI : 10.24953/turkjped.2018.05.020 Sözeri B, Gerçeker-Türk B, Yıldız-Atıkan B, Mir S, Berdeli A. A novel mutation of interleukin-1 receptor antagonist (IL1RN) in a DIRA patient from Turkey: Diagnosis and treatment. Turk J Pediatr 2018; 60: 588-592.

Autoinflammatory diseases can cause severe inflammation in bone and skin such as neonatal-onset multisystem inflammatory disease (NOMID), Majeed syndrome, interleukin-36 receptor antagonist deficiency (DITRA) and deficiency of interleukin-1 (IL-1) receptor antagonist (DIRA) syndrome. Here we report a five-year old boy who was admitted to the hospital with pustular skin lesions and fever in the first month of his life. Molecular analysis of IL1RN gene revealed a single homozygous C nucleotide deletion at nucleotide position 396 (p.Thr133Profs*118). The novel p.Thr133Profs*118 mutation found in our study caused frameshift mutation and as a result, the respective protein is most likely non-functional. The patient, who received a variety of treatments for various preliminary diagnoses until the final diagnosis (DIRA), was treated with recombinant IL-1Ra, anakinra, and experienced significant clinical improvement. Keywords : deficiency of interleukin-1 receptor antagonist, DIRA, mutation

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