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Journals / Turkish Journal of Pediatrics / 2018 / Cilt: 60 - Sayı: 5

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

Betül SÖZERİ
Bengü GERÇEKER TÜRK
Başak Yıldız ATIKAN
Sevgi MİR
Afig BERDELİ
Pages
588–592
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

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.

📌 3 Key Takeaways

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Objective & Hypothesis: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.
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Key Findings & Data:Molecular analysis ofIL1RN gene revealed a single homozygous C nucleotide deletion at nucleotideposition 396 (p.Thr133Profs*118).
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Conclusion & Impact: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.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

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.

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Cite This Article

SÖZERİ, B., TÜRK, B. G., ATIKAN, B. Y., MİR, S., BERDELİ, A. (2018). A novel mutation of interleukin-1 receptor antagonist (IL1RN) in a DIRA patient from Turkey: Diagnosis and treatment. Turkish Journal of Pediatrics, Cilt: 60 - Sayı: 5, 588–592. https://ajindex.com/articles/412128

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