Purine Nucleoside Phosphorylase Deficient Severe Combined Immunodeficiencies: A Case Report and Systematic Review (1975–2022)
Author:
Funder
Universiti Sains Malaysia
Publisher
Springer Science and Business Media LLC
Subject
Immunology,Immunology and Allergy
Link
https://link.springer.com/content/pdf/10.1007/s10875-023-01532-5.pdf
Reference82 articles.
1. Parvaneh N, Ashrafi M-R, Yeganeh M, Pouladi N, Sayarifar F, Parvaneh L. Progressive multifocal leukoencephalopathy in purine nucleoside phosphorylase deficiency. Brain Develop. 2007;29(2):124–6.
2. Markert ML. Purine nucleoside phosphorylase deficiency. Immunodefic Rev. 1991;3(1):45–81.
3. Torun B, Bilgin A, Orhan D, Gocmen R, Kılıc SS, Kuskonmaz B, Cetinkaya D, Tezcan I, Cagdas D. Combined immunodeficiency due to purine nucleoside phosphorylase deficiency: outcome of three patients. European Journal of Medical Genetics. 2022;65(3):104428.
4. Ozkinay F, Pehlivan S, Onay H, van den Berg P, Vardar F, Koturoglu G, et al. Purine nucleoside phosphorylase deficiency in a patient with spastic paraplegia and recurrent infections. J Child Neurol. 2007;22(6):741–3.
5. Grunebaum E, Campbell N, Leon-Ponte M, Xu X, Chapdelaine H. Partial purine nucleoside phosphorylase deficiency helps determine minimal activity required for immune and neurological development. Front Immunol. 2020;11:1257.
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