Exome sequencing diagnoses x-linked moesin-associated immunodeficiency in a primary immunodeficiency case

HIGHLIGHTS

  • who: Lyn R. Griffiths from the University of Technology, Brisbane, QLD, Australia have published the research work: Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case, in the Journal: (JOURNAL) of December/16,/2016

SUMMARY

    Primary immunodeficiency disorders (PIDs) encompass a diverse group of mostly inherited genetic disorders that compromise immune system function and predispose individuals to recur­ rent infections and other immune disorders such as auto­ immunity, hematological disorders and lymphoid malignancies. While WGS is the most comprehensive technique able to identify around 4 million variants within the . . .

     

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