Roifman syndrome: a description of further immunological and radiological features

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dc.contributor.authorClifford, Danielleen
dc.contributor.authorMoloney, Fiachraen
dc.contributor.authorLeahy, Timothy Ronanen
dc.contributor.authorMurray, Deirdre M.en
dc.date.accessioned2025-02-11T15:52:19Z
dc.date.available2025-02-11T15:52:19Z
dc.date.issued2024-01-22
dc.description.abstractRoifman syndrome is a rare autosomal recessive inherited syndromic immunodeficiency. We wish to add to the available literature by reporting two brothers with clinical, radiological and immunological features of Roifman syndrome, confirmed on whole exome sequencing. We report an excellent response to subcutaneous immunoglobulin therapy in both brothers, reducing infection burden and hospital admissions. New radiological features are also described here which may assist in the diagnosis of other patients.en
dc.description.statusPeer revieweden
dc.description.versionAccepted Versionen
dc.format.mimetypeapplication/pdfen
dc.identifier.articleid249109en
dc.identifier.citationClifford, D., Moloney, F., Leahy, T. R. and Murray, D. M. (2022) 'Roifman syndrome: a description of further immunological and radiological features', BMJ Case Reports CP, 15(4), e249109. https://doi.org/10.1136/bcr-2022-249109en
dc.identifier.doi10.1136/bcr-2022-249109en
dc.identifier.issn1757-790Xen
dc.identifier.issued4en
dc.identifier.journaltitleBMJ Case Reports CPen
dc.identifier.urihttps://hdl.handle.net/10468/17024
dc.identifier.volume15en
dc.language.isoenen
dc.publisherBMJ Publishing Groupen
dc.relation.ispartofBMJ Case Reportsen
dc.rights© 2022, BMJ Publishing Group Limited. No commercial re-use.en
dc.subjectRoifman syndromeen
dc.subjectSubcutaneous immunoglobulin therapyen
dc.subject~Paediatrics and Child Health - Journal Articles~en
dc.titleRoifman syndrome: a description of further immunological and radiological featuresen
dc.typeArticle (peer-reviewed)en
oaire.citation.issue4en
oaire.citation.volume15en
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