{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T22:29:16Z","timestamp":1781303356871,"version":"3.54.1"},"reference-count":20,"publisher":"BMJ","issue":"4","license":[{"start":{"date-parts":[[2023,12,8]],"date-time":"2023-12-08T00:00:00Z","timestamp":1701993600000},"content-version":"unspecified","delay-in-days":7,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009139","name":"German Center for Infection Research","doi-asserted-by":"crossref","award":["01.801"],"award-info":[{"award-number":["01.801"]}],"id":[{"id":"10.13039\/100009139","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Germany\u2019s Excellence Strategy","award":["39087428"],"award-info":[{"award-number":["39087428"]}]},{"name":"Germany\u2019s Excellence Strategy","award":["EXC 2155"],"award-info":[{"award-number":["EXC 2155"]}]},{"DOI":"10.13039\/100010118","name":"Rosemarie-Germscheid-Stiftung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010118","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["RMD Open"],"accepted":{"date-parts":[[2023,11,23]]},"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:p>Prolidase deficiency (PD) is a rare autosomal recessive inborn error of immunity caused by biallelic homozygous or compound heterozygous loss-of-function mutations in <jats:italic>PEPD<\/jats:italic>, the gene that encodes prolidase. PD typically manifests with variable dysmorphic features, chronic cutaneous ulcers, recurrent infections and autoimmune features, including systemic lupus erythematosus. So far, there is no consensus regarding treatment of PD and its autoimmune manifestations. Here, we present a 28-year-old female patient with PD due to a novel homozygous intragenic deletion in <jats:italic>PEPD<\/jats:italic>, diagnosed at the age of 6 years and 7 months with an undifferentiated connective tissue disease that, apart from its very early onset, would be consistent with the diagnosis of Sj\u00f6gren\u2019s syndrome. Steroids and diverse conventional synthetic disease-modifying antirheumatic drugs failed to control PD-associated vasculitis and mucocutaneous ulcerations and led to infectious complications, including cytomegalovirus colitis. Introduction of rituximab (RTX) treatment in this patient led to sustained recession of mucocutaneous ulceration, enabling tapering of steroids. High interleukin-1\u03b2 (IL-1\u03b2) production by this patient\u2019s monocytes, together with the detection of both IL-1\u03b2 and interleukin-18 (IL-18) in her serum, suggest enhanced inflammasome activation in PD, whereas the therapeutic efficacy of RTX implies a role for CD20 positive B cells in the complex immunopathogenesis of PD.<\/jats:p>","DOI":"10.1136\/rmdopen-2023-003507","type":"journal-article","created":{"date-parts":[[2023,12,8]],"date-time":"2023-12-08T00:20:16Z","timestamp":1701994816000},"page":"e003507","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":9,"title":["Rituximab to treat prolidase deficiency due to a novel pathogenic copy number variation in <i>PEPD<\/i>"],"prefix":"10.1136","volume":"9","author":[{"given":"Faranaz","family":"Atschekzei","sequence":"first","affiliation":[{"name":"Rheumatology and Immunology, Hannover Medical School, Hannover, Germany"},{"name":"Cluster of Excellence RESIST (EXC 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