PROLIDASE DEFICIENCY, A RARE INBORN ERROR OF IMMUNITY, CLINICAL PHENOTYPES, IMMUNOLOGICAL FEATURES, AND PROPOSED TREATMENTS IN TWINS

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

Abstract 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 inborn error of immunity.PD presents with

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Cryptorchestia ruffoi sp. n. from the island of Rhodes (Greece), revealed by morphological and phylogenetic analysis (Crustacea, Amphipoda, Talitridae)

A new Cryptorchestia species, Cryptorchestia ruffoi Latella & Vonk, sp.n.from the island of Rhodes in south-eastern Greece, can be distinguished on the basis of morphological and phylogenetic data.Morphological analysis and DNA sequencing of mitochondrial and nuclear protein-coding genes indicated that this species is related to C.cavimana

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