Published in
JIMD Reports, p. 83-89
Links
- ORCID
- Crossref
- [www.ncbi.nlm.nih.gov] | PDF
- [europepmc.org] | PDF
- [www.ncbi.nlm.nih.gov] | PDF
- [www.ncbi.nlm.nih.gov] | PDF
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Novel Genetic Mutations in the First Swedish Patient with Purine Nucleoside Phosphorylase Deficiency and Clinical Outcome After Hematopoietic Stem Cell Transplantation with HLA-Matched Unrelated Donor
Book chapter published in 2015 by
Nicholas Brodszki,
Maria Svensson,
André B. P. van Kuilenburg,
Judith Meijer,
Lida Zoetekouw,
Lennart Truedsson,
Jacek Toporski 
Abstract
Purine nucleoside phosphorylase (PNP) is an enzyme active in the purine salvage pathway. PNP deficiency caused by autosomal recessive mutations in the PNP gene leads to severe combined immunodeficiency (SCID) and in two thirds of cases also to neurological effects such as developmental delay, ataxia, and motor impairment.