Neurologic status of patients with purine nucleoside phosphorylase deficiency before and after hematopoetic stem cell transplantation

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dc.contributor.authorGemici Karaaslan, Betül
dc.contributor.authorTuran, Işılay
dc.contributor.authorAydemir, Sezin
dc.contributor.authorAkyüncü Meriç, Zeynep
dc.contributor.authorAtay, Didem
dc.contributor.authorAkçay, Arzu
dc.contributor.authorAyaz Sarı, Aysun
dc.contributor.authorHersfield, Michael
dc.contributor.authorÇipe, Funda
dc.contributor.authorAdaklı Aksoy, Başak
dc.contributor.authorZengin Ersoy, Gizem
dc.contributor.authorBozkurt, Ceyhun
dc.contributor.authorKendir Demirkol, Yasemin
dc.contributor.authorÖztürk, Gülyüz
dc.contributor.authorAydoğmuş, Çiğdem
dc.contributor.authorKıykım, Ayça
dc.contributor.authorÇokuğraş, Haluk
dc.date.accessioned2023-10-08T06:55:05Z
dc.date.available2023-10-08T06:55:05Z
dc.date.issued2023en_US
dc.departmentFakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, İç Hastalıkları Ana Bilim Dalıen_US
dc.description.abstractBackground Purine nucleoside phosphorylase (PNP) defciency is a rare autosomal recessive combined immunodefciency. The phenotype is profound T cell defciency with variable B and NK cell functions and results in recurrent and persistent infections that typically begin in the frst year of life. Neurologic fndings occur in approximately two-thirds of patients. The mechanism of neurologic abnormalities is unclear. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for PNP defciency. Methods We report here six patients from fve unrelated families with PNP defciency treated in two centers in Turkey. We evaluated the neurological status of patients and compared to post-transplantation period if available. Then, we performed PubMed, Google Scholar, and Researchgate searches using the terms “PNP” and “hematopoietic stem cell transplantation” to fnd all reported cases of PNP transplantation and compared to our cohort. Results Six patients were treated in two centers in Turkey. One patient died from post-transplant complications. The other four patients underwent successful HSCT with good immune reconstitution after transplantation (follow-up 21–48 months) and good neurological outcomes. The other patient with a new mutation is still waiting for a matching HLA donor. Discussion In PNP defciency, clinical manifestations are variable, and this disease should be considered in the presence of many diferent clinical fndings. Despite the comorbidities that occurred before transplantation, HSCT currently appears to be the only treatment option for this disease. HSCT not only cures immunologic disorders, but probably also improves or at least stabilizes the neurologic status of patients.en_US
dc.identifier.citationKaraaslan, B. G., Turan, I., Aydemir, S., Meric, Z. A., Atay, D., Akcay, A., ... & Cokugras, H. (2023). Neurologic status of patients with purine nucleoside phosphorylase deficiency before and after hematopoetic stem cell transplantation. Journal of Clinical Immunology, 43(8), 2062-2075.en_US
dc.identifier.endpage2075en_US
dc.identifier.issn0271-9142
dc.identifier.issn1573-2592
dc.identifier.issue8en_US
dc.identifier.scopus2-s2.0-85171468618
dc.identifier.scopusqualityQ1
dc.identifier.startpage2062en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12939/4076
dc.identifier.volume43en_US
dc.identifier.wosWOS:001067351400001
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorÇipe, Funda
dc.institutionauthorAdaklı Aksoy, Başak
dc.institutionauthorZengin Ersoy, Gizem
dc.language.isoen
dc.relation.ispartofJournal of Clinical Immunology
dc.relation.isversionof10.1007/s10875-023-01585-6en_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectPurine nucleoside phosphorylase defciencyen_US
dc.subjectNeuromotor developmenten_US
dc.subjectHematopoietic stem cell transplantationen_US
dc.subjectCombined immune defciencyen_US
dc.titleNeurologic status of patients with purine nucleoside phosphorylase deficiency before and after hematopoetic stem cell transplantation
dc.typeArticle

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