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

• Published in: Turkish journal of pediatrics Vol. 60; no. 5; pp. 588 - 592
• Main Authors: Sözeri, Betül, Gerçeker-Türk, Bengü, Yıldız-Atıkan, Başak, Mir, Sevgi, Berdeli, Afig
• Format: Journal Article
• Language: English
• Published: Turkey Hacettepe University Faculty of Medicine 25.10.2018
• Subjects: Abdomen; Antibiotics; Arthritis; Blood; Cytokines; Disease; Fever; Hospitals; Immunoglobulins; Inflammation; Inflammatory diseases; Laboratories; Medical diagnosis; Mutation; Proteins; Psoriasis; Sepsis; Skin; Urticaria; Turkey; DIRA; mutation; deficiency of interleukin-1 receptor antagonist
• ISSN: 0041-4301; 2791-6421
• 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.