A cdc42 stop-loss mutation in a patient with relapsing polychondritis and autoinflammation

HIGHLIGHTS

  • who: Rogier Theodoor Arthur van Wijck from the Department of Pathology and Clinical Bioinformatics, Erasmus University Medical Center, Rotterdam, The Netherlands have published the research work: A CDC42 Stop-loss Mutation in a Patient with Relapsing Polychondritis and Autoinflammation, in the Journal: (JOURNAL)

SUMMARY

    No thrombocytopenia or leukopenia were observed; however, there was a slight decrease of B-cells (0.07 × ­1 0 9; ref 0.1-0.4 × ­1 0 9) and NK-cells (0.02 × ­109; ref 0.1-0.4 × ­109). Bone marrow biopsy revealed hypercellularity with trilineage hematopoiesis interpreted . . .

     

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