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...
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| Principais autores: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2023-10-01
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| Colecção: | RMD Open |
| Acesso em linha: | https://rmdopen.bmj.com/content/9/4/e003507.full |
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