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- W2023162144 abstract "Omenn's syndrome is a rare inherited form of severe combined immunodeficiency associated with high mortality. This report presents the clinical course and laboratory findings in two cousins with Omenn‘s syndrome which were different despite of the identical mutations in RAG1 gene. Zespół Omenna jest rzadką postacią ciężkiego skojarzonego niedoboru odporności związaną z wysoką śmiertelnością. W pracy zaprezentowano różnice w przebiegu klinicznym i wynikach badań laboratoryjnych u dwóch kuzynów z tym zespołem i z identyczną mutacją w genie RAG1." @default.
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- W2023162144 date "2009-07-01" @default.
- W2023162144 modified "2023-10-16" @default.
- W2023162144 title "Omenn's syndrome in cousins: different clinical course and identical RAG1 mutation" @default.
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- W2023162144 doi "https://doi.org/10.1016/s0031-3939(09)70126-x" @default.
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