Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.
Francis RossignolMarvid S Duarte MorenoJean-François BenoistManfred BoehmEmmanuelle BourratAline CanoBrigitte ChabrolClaudine CossonJosé Luís Dapena DíazArthur D'HarlingueDavid DimmockAlexandra F FreemanMaría Tallón GarcíaCheryl GargantaTobias GoergeSara S HalbachJan de LaffolieChristina T LamLudovic MartinEsmeralda MartinsAndrea MeinhardtIsabelle MelkiAmanda K OmbrelloNoémie PérezDulce QuelhasAnna ScottAnne M SlavotinekAna Rita SoaresSarah L SteinKira SüßmuthJenny ThiesCarlos R FerreiraManuel SchiffPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
Prolidase deficiency has a broad range of manifestations. Symptoms at onset may be nonspecific, likely contributing to the diagnostic delay. Testing for this disorder should be considered in any child with unexplained autoimmunity, lower extremity ulcers, splenomegaly, or HLH.