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

Betul Gemici KaraaslanIsilay TuranSezin AydemirZeynep Akyuncu MericDidem AtayArzu AkcayAysun Ayaz SariMichael HershfieldFunda CipeBasak Adakli AksoyGizem Zengin ErsoyCeyhun BozkurtYasemin Kendir DemirkolGulyuz OzturkCigdem AydogmusAyça KiykimHaluk Cokugras

Published in: Journal of clinical immunology (2023)

In 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.

Keyphrases

stem cell transplantation
end stage renal disease
high dose
newly diagnosed
ejection fraction
chronic kidney disease
replacement therapy
prognostic factors
hematopoietic stem cell
patient reported