Prolidase deficiency, a rare inborn error of immunity, clinical phenotypes, immunological features, and proposed treatments in twins

BACKGROUND: Prolidase deficiency (PD) is an autosomal recessive inborn multisystemic disease caused by mutations in the PEPD gene encoding the enzyme prolidase D, leading to defects in turnover of proline-containing proteins, such as collagen. PD is categorized as a metabolic disease, but also as an...

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Detalles Bibliográficos
Autores principales: Alrumayyan, Nora, Slauenwhite, Drew, McAlpine, Sarah M., Roberts, Sarah, Issekutz, Thomas B., Huber, Adam M., Liu, Zaiping, Derfalvi, Beata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8867623/
https://www.ncbi.nlm.nih.gov/pubmed/35197125
http://dx.doi.org/10.1186/s13223-022-00658-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8867623/
https://www.ncbi.nlm.nih.gov/pubmed/35197125
http://dx.doi.org/10.1186/s13223-022-00658-2

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