Rituximab to treat prolidase deficiency due to a novel pathogenic copy number variation in PEPD
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...
Tallennettuna:
| Päätekijät: | , , , , , , , |
|---|---|
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
BMJ Publishing Group
2023-10-01
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| Sarja: | RMD Open |
| Linkit: | https://rmdopen.bmj.com/content/9/4/e003507.full |
| Tagit: |
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