Matches in SemOpenAlex for { <https://semopenalex.org/work/W2613233208> ?p ?o ?g. }
Showing items 1 to 95 of
95
with 100 items per page.
- W2613233208 endingPage "451" @default.
- W2613233208 startingPage "445" @default.
- W2613233208 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 that triggered desensitization with subsequent marked and sustained clinical and laboratory improvement. We report a novel DIRA-causing homozygous deletion affecting IL1RN in an Indian patient. The mutation likely is a founder mutation; the design of breakpoint-specific primers will enable genetic screening in Indian patients suspected of DIRA. The patient developed anaphylaxis to anakinra, was desensitized, and is in clinical remission on continued treatment." @default.
- W2613233208 created "2017-05-19" @default.
- W2613233208 creator A5002144362 @default.
- W2613233208 creator A5039150932 @default.
- W2613233208 creator A5050602602 @default.
- W2613233208 creator A5053367602 @default.
- W2613233208 creator A5054255771 @default.
- W2613233208 creator A5056104162 @default.
- W2613233208 creator A5063121547 @default.
- W2613233208 creator A5072938952 @default.
- W2613233208 creator A5074130026 @default.
- W2613233208 creator A5077036278 @default.
- W2613233208 creator A5083716848 @default.
- W2613233208 creator A5087490874 @default.
- W2613233208 creator A5089922589 @default.
- W2613233208 date "2017-05-15" @default.
- W2613233208 modified "2023-10-02" @default.
- W2613233208 title "Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN" @default.
- W2613233208 cites W1524084172 @default.
- W2613233208 cites W1547839971 @default.
- W2613233208 cites W1978462186 @default.
- W2613233208 cites W1979085148 @default.
- W2613233208 cites W2033413265 @default.
- W2613233208 cites W2052714986 @default.
- W2613233208 cites W2090008242 @default.
- W2613233208 cites W2121308112 @default.
- W2613233208 cites W2159587574 @default.
- W2613233208 cites W2163965009 @default.
- W2613233208 doi "https://doi.org/10.1007/s10875-017-0399-1" @default.
- W2613233208 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8420971" @default.
- W2613233208 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28503715" @default.
- W2613233208 hasPublicationYear "2017" @default.
- W2613233208 type Work @default.
- W2613233208 sameAs 2613233208 @default.
- W2613233208 citedByCount "38" @default.
- W2613233208 countsByYear W26132332082017 @default.
- W2613233208 countsByYear W26132332082018 @default.
- W2613233208 countsByYear W26132332082019 @default.
- W2613233208 countsByYear W26132332082020 @default.
- W2613233208 countsByYear W26132332082021 @default.
- W2613233208 countsByYear W26132332082022 @default.
- W2613233208 countsByYear W26132332082023 @default.
- W2613233208 crossrefType "journal-article" @default.
- W2613233208 hasAuthorship W2613233208A5002144362 @default.
- W2613233208 hasAuthorship W2613233208A5039150932 @default.
- W2613233208 hasAuthorship W2613233208A5050602602 @default.
- W2613233208 hasAuthorship W2613233208A5053367602 @default.
- W2613233208 hasAuthorship W2613233208A5054255771 @default.
- W2613233208 hasAuthorship W2613233208A5056104162 @default.
- W2613233208 hasAuthorship W2613233208A5063121547 @default.
- W2613233208 hasAuthorship W2613233208A5072938952 @default.
- W2613233208 hasAuthorship W2613233208A5074130026 @default.
- W2613233208 hasAuthorship W2613233208A5077036278 @default.
- W2613233208 hasAuthorship W2613233208A5083716848 @default.
- W2613233208 hasAuthorship W2613233208A5087490874 @default.
- W2613233208 hasAuthorship W2613233208A5089922589 @default.
- W2613233208 hasBestOaLocation W26132332082 @default.
- W2613233208 hasConcept C126322002 @default.
- W2613233208 hasConcept C149892131 @default.
- W2613233208 hasConcept C170493617 @default.
- W2613233208 hasConcept C190139176 @default.
- W2613233208 hasConcept C203014093 @default.
- W2613233208 hasConcept C2776885963 @default.
- W2613233208 hasConcept C2778122271 @default.
- W2613233208 hasConcept C71924100 @default.
- W2613233208 hasConceptScore W2613233208C126322002 @default.
- W2613233208 hasConceptScore W2613233208C149892131 @default.
- W2613233208 hasConceptScore W2613233208C170493617 @default.
- W2613233208 hasConceptScore W2613233208C190139176 @default.
- W2613233208 hasConceptScore W2613233208C203014093 @default.
- W2613233208 hasConceptScore W2613233208C2776885963 @default.
- W2613233208 hasConceptScore W2613233208C2778122271 @default.
- W2613233208 hasConceptScore W2613233208C71924100 @default.
- W2613233208 hasIssue "5" @default.
- W2613233208 hasLocation W26132332081 @default.
- W2613233208 hasLocation W26132332082 @default.
- W2613233208 hasOpenAccess W2613233208 @default.
- W2613233208 hasPrimaryLocation W26132332081 @default.
- W2613233208 hasRelatedWork W2030171828 @default.
- W2613233208 hasRelatedWork W2045040998 @default.
- W2613233208 hasRelatedWork W2054905746 @default.
- W2613233208 hasRelatedWork W2060145433 @default.
- W2613233208 hasRelatedWork W2074726209 @default.
- W2613233208 hasRelatedWork W2076624509 @default.
- W2613233208 hasRelatedWork W2099462221 @default.
- W2613233208 hasRelatedWork W2386082860 @default.
- W2613233208 hasRelatedWork W2391618039 @default.
- W2613233208 hasRelatedWork W3029322182 @default.
- W2613233208 hasVolume "37" @default.
- W2613233208 isParatext "false" @default.
- W2613233208 isRetracted "false" @default.
- W2613233208 magId "2613233208" @default.
- W2613233208 workType "article" @default.