Rituximab to treat prolidase deficiency due to a novel pathogenic copy number variation in PEPD
Rituximab to treat prolidase deficiency due to a novel pathogenic copy number variation in PEPD
About this item
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Publisher
England: EULAR
Journal title
Language
English
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Publisher
England: EULAR
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Scope and Contents
Contents
Prolidase deficiency (PD) is a rare autosomal recessive inborn error of immunity caused by biallelic homozygous or compound heterozygous loss-of-function mutations in PEPD, the gene that encodes prolidase. PD typically manifests with variable dysmorphic features, chronic cutaneous ulcers, recurrent infections and autoimmune features, including syst...
Alternative Titles
Full title
Rituximab to treat prolidase deficiency due to a novel pathogenic copy number variation in PEPD
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TN_cdi_doaj_primary_oai_doaj_org_article_d2b0b73d1d4e477eb790b219ceef1bed
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_d2b0b73d1d4e477eb790b219ceef1bed
Other Identifiers
ISSN
2056-5933
E-ISSN
2056-5933
DOI
10.1136/rmdopen-2023-003507
