We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
A novel mutation of interleukin-1 receptor antagonist (IL1RN) in a DIRA patient from Turkey: Diagnosis and treatment.
- Authors
Sözeri, Betül; Gerçeker-Türk, Bengü; Yıldız-Atıkan, Başak; Mir, Sevgi; Berdeli, Afig
- Abstract
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.
- Subjects
TURKEY; INTERLEUKIN-1 receptors; FRAMESHIFT mutation; OSTEITIS; ETIOLOGY of diseases
- Publication
Turkish Journal of Pediatrics, 2018, Vol 60, Issue 5, p588
- ISSN
0041-4301
- Publication type
Article
- DOI
10.24953/turkjped.2018.05.020