Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency

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dc.authoridFunda Erol Çipe / 0000-0002-9718-7507
dc.authorscopusidFunda Erol Çipe / 25824763200
dc.authorwosidFunda Erol Çipe / GDE-8701-2022
dc.contributor.authorGhosh, Sujal
dc.contributor.authorBal, Sevgi Köstel
dc.contributor.authorEdwards, Emily S J
dc.contributor.authorPillay, Bethany
dc.contributor.authorJimenez-Heredia, Raúl
dc.contributor.authorRao, Geetha
dc.contributor.authorErol Çipe, Funda
dc.contributor.authorSalzer, Elisabeth
dc.contributor.authorZoghi, Samaneh
dc.contributor.authorAbolhassani, Hassan
dc.contributor.authorMomen, Tooba
dc.contributor.authorGostick, Emma
dc.contributor.authorPrice, David A
dc.contributor.authorZhang, Yu
dc.contributor.authorOler, Andrew J
dc.contributor.authorGonzaga-Jauregui, Claudia
dc.contributor.authorErman, Baran
dc.contributor.authorMetin, Ayşe
dc.contributor.authorİlhan, İnci
dc.contributor.authorHaskoloğlu, Şule
dc.contributor.authorİslamoğlu, Candan
dc.contributor.authorBaskın, Kübra
dc.contributor.authorCeylaner, Serdar
dc.contributor.authorYılmaz, Ebru
dc.contributor.authorÜnal, Ekrem
dc.contributor.authorKarakukcu, Musa
dc.contributor.authorBerghuis, Dagmar
dc.contributor.authorCole, Theresa
dc.contributor.authorGupta, Aditya Kumar
dc.contributor.authorHauck, Fabian
dc.contributor.authorHoepelman, Andy
dc.contributor.authorBarış, Safa
dc.contributor.authorKarakoç Aydıner, Elif
dc.contributor.authorÖzen, Ahmet
dc.contributor.authorKager, Leo
dc.contributor.authorHolzinger, Dirk
dc.contributor.authorPaulussen, Michael
dc.contributor.authorKrüger, Renate
dc.contributor.authorMeisel, Roland
dc.contributor.authorOommen, Prasad Thomas
dc.contributor.authorMorris, Emma C
dc.contributor.authorNeven, Benedicte
dc.contributor.authorWorth, Austen J J
dc.contributor.authorMontfrans, Joris M van
dc.contributor.authorFraaij, Pieter
dc.contributor.authorChoo, Sharon
dc.contributor.authorDoğu, Figen
dc.contributor.authorDavies, E Graham
dc.contributor.authorBurns, Siobhan
dc.contributor.authorDueckers, Gregor
dc.contributor.authorBecker, Ruy Perez
dc.contributor.authorBernuth, Horst von
dc.contributor.authorLatour, Sylvain
dc.contributor.authorFaraci, Maura
dc.contributor.authorGattorno, Marco
dc.contributor.authorSu, Helen
dc.contributor.authorPan-Hammarström, Qiang
dc.contributor.authorHammarström, Lennart
dc.contributor.authorLenardo, Michael J
dc.contributor.authorMa, Cindy S
dc.contributor.authorNiehues, Tim
dc.contributor.authorAghamohammadi, Asghar
dc.contributor.authorRezaei, Nima
dc.contributor.authorIkinciogullari, Aydan
dc.contributor.authorTangye, Stuart G
dc.contributor.authorLankester, Arjan C
dc.contributor.authorBoztuğ, Kaan
dc.date.accessioned2020-09-22T12:59:59Z
dc.date.available2020-09-22T12:59:59Z
dc.date.issued2020en_US
dc.departmentİstinye Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractBiallelic mutations in the genes encoding CD27 or its ligand CD70 underlie inborn errors of immunity characterized predominantly by EBV-associated immune dysregulation, such as chronic viremia, severe infectious mononucleosis, hemophagocytic lymphohistiocytosis (HLH), lymphoproliferation and malignancy. A comprehensive understanding of the natural history, immune characteristics and transplant outcomes has remained elusive. Here, in a multi-institutional global collaboration, we collected clinical information of 49 patients from 29 families (CD27 n=33, CD70 n=16), including 24 previously unreported individuals and identified a total of 16 distinct mutations in CD27, and 8 in CD70, respectively. The majority (90%) of patients were EBV+ at diagnosis, but only ~30% presented with infectious mononucleosis. Lymphoproliferation and lymphoma were the main clinical manifestations (70% and 43%, respectively), and 9 of the CD27-deficient patients developed HLH. Twenty-one (43%) patients developed autoinflammatory features including uveitis, arthritis and periodic fever. Detailed immunological characterization revealed aberrant generation of memory B and T cells, including a paucity of EBV-specific T cells, and impaired effector function of CD8+ T cells, thereby providing mechanistic insight into cellular defects underpinning the clinical features of disrupted CD27/CD70 signaling. Nineteen patients underwent allogeneic hematopoietic stem cell transplantation (HSCT) prior to adulthood predominantly because of lymphoma, with 95% survival without disease recurrence. Our data highlight the marked predisposition to lymphoma of both CD27- and CD70-deficient patients. The excellent outcome after HSCT supports the timely implementation of this treatment modality particularly in patients presenting with malignant transformation to lymphoma.en_US
dc.identifier.citationGhosh, S., Köstel Bal, S., Edwards, E. S., Pillay, B., Jimenez-Heredia, R., Rao, G., ... & Momen, T. (2020). Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency. Blood.en_US
dc.identifier.doi10.1182/blood.2020006738en_US
dc.identifier.pmid32603431en_US
dc.identifier.scopus2-s2.0-85089514359en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.urihttps://doi.org/10.1182/blood.2020006738
dc.identifier.urihttps://hdl.handle.net/20.500.12713/1070
dc.identifier.wosWOS:000599645500010en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorErol Çipe, Funda
dc.language.isoenen_US
dc.relation.ispartofBlooden_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleExtended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiencyen_US
dc.typeArticleen_US

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