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Article

A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma.

Journal of clinical immunology - 1 Aug 2020

Al-Saud Bandar, Al Alawi Zainab, Hussain Faisal Bin, Hershfield Michael, Alkuraya Fowzan S, Al-Mayouf Sulaiman M

Abstract excerpt

BACKGROUND: Purine nucleoside phosphorylase (PNP) deficiency accounts for about 4% of severe combined immunodeficiency diseases. PNP deficiency is a variable disease with recurrent infections and neurodevelopmental delay. Autoimmunity and malignancy can still occur in one-third of patients. METHODS: Case report. CASE PRESENTATION: An 8-year-old Saudi female who was apparently healthy presented at the age of...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Purine-Pyrimidine Metabolism, Inborn Errors

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Identifiers

PMID: 32514656
DOI: 10.1007/s10875-020-00800-y

Genes

PNP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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