Immune reconstitution inflammatory syndrome after hematopoietic stem cell transplantation in a FOXN1-deficient patient

dc.authorid0000-0002-4551-5433
dc.contributor.authorÇorbalı, Osman
dc.contributor.authorGemici Karaaslan, Hatice Betül
dc.contributor.authorAydemir, Sezin
dc.contributor.authorÖnal, Pınar
dc.contributor.authorKendir Demirkol, Yasemin
dc.contributor.authorNepesov, Serdar
dc.contributor.authorKıykım, Ayça
dc.contributor.authorÇokuğraş, Haluk
dc.date.accessioned2023-07-20T10:40:37Z
dc.date.available2023-07-20T10:40:37Z
dc.date.issued2023
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
dc.description.abstractThe FOXN1 gene mutation is a unique disorder that causes the nude severe combined immunodeficiency phenotype. In patients with severe combined immunodeficiency, hematopoietic stem cell transplantation (HSCT) is life-saving if performed earlier. Thymic transplantation is the curative treatment for FOXN1 deficiency because the main pathology is thymic stromal changes. In this report, we describe the clinical features of a Turkish patient with a homozygous FOXN1 mutation treated with HSCT from his human leukocyte antigen-matched sibling. On follow-up, he showed Bacille Calmette Guerin adenitis and was evaluated as having immune reconstitution inflammatory syndrome. By presenting our patient, we aimed to draw attention to the development of HSCT and subsequent immune reconstitution inflammatory syndrome as a treatment option in patients with FOXN1 deficiency.
dc.identifier.citationÇorbalı, O., Gemici Karaaslan, H. B., Aydemir, S., Önal, P., Kendir Demirkol, Y., Nepesov, S. ... Çokuğraş, H. (2023). Immune reconstitution inflammatory syndrome after hematopoietic stem cell transplantation in a FOXN1-deficient patient. Journal of Pediatric Hematology/Oncology, 45(5), 275-277. https://dx.doi.org/10.1097/MPH.0000000000002677
dc.identifier.doi10.1097/MPH.0000000000002677
dc.identifier.endpage277
dc.identifier.issn1077-4114
dc.identifier.issn1536-3678
dc.identifier.issue5
dc.identifier.pmid37146104
dc.identifier.scopus2-s2.0-85163818233
dc.identifier.scopusqualityQ3
dc.identifier.startpage275
dc.identifier.urihttps://dx.doi.org/10.1097/MPH.0000000000002677
dc.identifier.urihttps://hdl.handle.net/20.500.12511/11228
dc.identifier.volume45
dc.identifier.wos001017782300009en_US
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorNepesov, Serdar
dc.language.isoen
dc.publisherLippincott Williams and Wilkins
dc.relation.ispartofJournal of Pediatric Hematology/Oncologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/embargoedAccess
dc.subjectFOXN1
dc.subjectNude SCID
dc.subjectSCID
dc.subjectHSCT
dc.subjectIRIS
dc.titleImmune reconstitution inflammatory syndrome after hematopoietic stem cell transplantation in a FOXN1-deficient patient
dc.typeArticle

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