Combined immunodeficiency due to purine nucleoside phosphorylase deficiency: Outcome of three patients.
Hematopoietic stem cell transplantation
Low uric acid
Purine nucleoside phosphorylase
Severe combined immunodeficiency
T cell deficiency
Journal
European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089
Informations de publication
Date de publication:
Mar 2022
Mar 2022
Historique:
received:
10
05
2021
revised:
21
11
2021
accepted:
15
01
2022
pubmed:
23
1
2022
medline:
5
4
2022
entrez:
22
1
2022
Statut:
ppublish
Résumé
Purine nucleoside phosphorylase (PNP) is a key enzyme in the purine salvage pathway. PNP deficiency, caused by the autosomal recessive mutations in the PNP gene, can lead to severe combined immunodeficiency (SCID). PNP deficiency patients typically have profound T-cell deficiency with variable B and NK cell functions. They present clinically with recurrent infections, failure to thrive, various neurological disorders, malignancies, and autoimmune diseases. Hematopoietic stem cell transplantation (HSCT) is the only available cure for patients with PNP deficiency. We present three patients, two of whom were successfully treated with HSCT. One patient died prior to HSCT due to EBV-associated lymphoma. Over the course of post-HSCT, there was no further aggravation of the patients' neurological symptoms. Although both of the patients still had mild developmental delay, new developmental milestones were achieved.
Identifiants
pubmed: 35063692
pii: S1769-7212(22)00009-X
doi: 10.1016/j.ejmg.2022.104428
pii:
doi:
Substances chimiques
Purine-Nucleoside Phosphorylase
EC 2.4.2.1
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
104428Informations de copyright
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