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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Hlavní autoři:	Torsten Witte, Georgios Sogkas, Natalia Dubrowinskaja, Faranaz Atschekzei, Theresa Graalmann, Mykola Fedchenko, Abdulwahab Elsayed, Felix C Ringshausen
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMJ Publishing Group 2023-10-01
Edice:	RMD Open
On-line přístup:	https://rmdopen.bmj.com/content/9/4/e003507.full
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