Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN.

Journal of Clinical Immunology
Leonardo O MendoncaAdriana A Jesus

Abstract

Deficiency of interleukin-1 receptor antagonist (DIRA) is a rare life-threatening autoinflammatory disease caused by autosomal recessive mutations in IL1RN. DIRA presents clinically with early onset generalized pustulosis, multifocal osteomyelitis, and elevation of acute phase reactants. We evaluated and treated an antibiotic-unresponsive patient with presumed DIRA with recombinant IL-1Ra (anakinra). The patient developed anaphylaxis to anakinra and was subsequently desensitized. Genetic analysis of IL1RN was undertaken and treatment with anakinra was initiated. A 5-month-old Indian girl born to healthy non-consanguineous parents presented at the third week of life with irritability, sterile multifocal osteomyelitis including ribs and clavicles, a mild pustular rash, and elevated acute phase reactants. SNP array of the patient's genomic DNA revealed a previously unrecognized homozygous deletion of approximately 22.5 Kb. PCR and Sanger sequencing of the borders of the deleted area allowed identification of the breakpoints of the deletion, thus confirming a homozygous 22,216 bp deletion that spans the first four exons of IL1RN. Due to a clinical suspicion of DIRA, anakinra was initiated which resulted in an anaphylactic reaction ...Continue Reading

References

Apr 20, 2005·Nature Genetics·Kevin L GundersonMark S Chee
Jun 6, 2009·The New England Journal of Medicine·Ivona AksentijevichRaphaela Goldbach-Mansky
Jun 6, 2009·The New England Journal of Medicine·Sreelatha ReddyJames Verbsky
Mar 21, 2012·Archives of Dermatology·Cristina N Brau-JavierJorge R Toro
Sep 4, 2012·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Ender AltiokOzden Sanal
Feb 24, 2015·Annual Review of Immunology·Adriana Almeida de JesusRaphaela Goldbach-Mansky

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Citations

Nov 6, 2018·Dermatology and Therapy·Francisco Gómez-GarcíaJuan Ruano
Apr 14, 2020·The Journal of Dermatological Treatment·Kyle TegtmeyerPeter A Lio
Jun 18, 2020·Pediatric Rheumatology Online Journal·Sara SignaMarco Gattorno
Jul 29, 2020·Journal of Perinatology : Official Journal of the California Perinatal Association·Domenico Umberto De RoseDonato Rigante
Aug 21, 2020·Pediatric Rheumatology Online Journal·Leonardo Oliveira MendonçaMarco Gattorno
Mar 15, 2020·Journal of Clinical Immunology·Vahid ZiaeeJouni Uitto
Mar 7, 2021·Biomolecules·Polly J Ferguson, Hatem El-Shanti
Mar 17, 2021·Journal of Paediatrics and Child Health·Reem AbdwaniAlmundher Al-Maawali
Apr 6, 2021·Frontiers in Immunology·Deepti SuriSurjit Singh
Jul 3, 2021·Children·Aikaterini KoryllouRaffaella Carlomagno

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Methods Mentioned

BETA
array technique
genotyping
PCR
biopsy
X-ray

Clinical Trials Mentioned

NCT02974595

Software Mentioned

iScan
Primer3Plus
Nexus Copy Number
cnvPartition

Related Concepts

Related Feeds

Anaphylaxis

Anaphylaxis is a serious allergic reaction that is rapid in onset and may cause death.