Neurologic Status of Patients with Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation

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dc.authoridKiykim, Ayca/0000-0001-5821-3963
dc.authoridGemici Karaaslan, Hatice Betul/0000-0002-0303-7146
dc.authorwosidAkcay, Arzu/W-2985-2017
dc.authorwosidKiykim, Ayca/J-6400-2017
dc.authorwosidBozkurt, Ceyhun/AAL-5043-2021
dc.authorwosidGemici Karaaslan, Hatice Betul/AAY-2424-2021
dc.contributor.authorKaraaslan, Betul Gemici
dc.contributor.authorTuran, Isilay
dc.contributor.authorAydemir, Sezin
dc.contributor.authorMeric, Zeynep Akyuncu
dc.contributor.authorAtay, Didem
dc.contributor.authorAkcay, Arzu
dc.contributor.authorSari, Aysun Ayaz
dc.date.accessioned2024-05-19T14:46:22Z
dc.date.available2024-05-19T14:46:22Z
dc.date.issued2023
dc.departmentİstinye Üniversitesien_US
dc.description.abstractBackgroundPurine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive combined immunodeficiency. The phenotype is profound T cell deficiency with variable B and NK cell functions and results in recurrent and persistent infections that typically begin in the first year of life. Neurologic findings 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 deficiency.MethodsWe report here six patients from five unrelated families with PNP deficiency 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 find all reported cases of PNP transplantation and compared to our cohort.ResultsSix 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.DiscussionIn PNP deficiency, clinical manifestations are variable, and this disease should be considered in the presence of many different clinical findings. 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.description.sponsorshipResearch Fund of Istanbul University-Cerrahpasa [TOA-2021-35251]en_US
dc.description.sponsorshipThis work was supported by the Research Fund of Istanbul University-Cerrahpasa (Project number: TOA-2021-35251).en_US
dc.identifier.doi10.1007/s10875-023-01585-6
dc.identifier.endpage2075en_US
dc.identifier.issn0271-9142
dc.identifier.issn1573-2592
dc.identifier.issue8en_US
dc.identifier.pmid37726596en_US
dc.identifier.scopus2-s2.0-85171468618en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage2062en_US
dc.identifier.urihttps://doi.org10.1007/s10875-023-01585-6
dc.identifier.urihttps://hdl.handle.net/20.500.12713/5505
dc.identifier.volume43en_US
dc.identifier.wosWOS:001067351400001en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherSpringer/Plenum Publishersen_US
dc.relation.ispartofJournal of Clinical Immunologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.snmz20240519_kaen_US
dc.subjectPurine Nucleoside Phosphorylase Deficiencyen_US
dc.subjectNeuromotor Developmenten_US
dc.subjectHematopoietic Stem Cell Transplantationen_US
dc.subjectCombined Immune Deficiencyen_US
dc.titleNeurologic Status of Patients with Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantationen_US
dc.typeArticleen_US

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