Neurologic status of patients with purine nucleoside phosphorylase deficiency before and after hematopoetic stem cell transplantation
[ X ]
Tarih
2023
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Background 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.
Açıklama
Anahtar Kelimeler
Purine nucleoside phosphorylase defciency, Neuromotor development, Hematopoietic stem cell transplantation, Combined immune defciency
Kaynak
Journal of Clinical Immunology
WoS Q Değeri
Q1
Scopus Q Değeri
Q1
Cilt
43
Sayı
8
Künye
Karaaslan, 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.
