Browsing Centre for Cell Biology and Cutaneous Research by Subject "Whole exome sequencing"
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A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID).
(2018-02)Common variable immunodeficiency (CVID) is characterised by repeated infection associated with primary acquired hypogammaglobulinemia. CVID frequently has a complex aetiology but, in certain cases, it has a monogenic cause. ...