Article
A unique STK4 mutation truncating only the C-terminal SARAH domain results in a mild clinical phenotype despite severe T cell lymphopenia: Case report.
Frontiers in immunology - 1 Jan 2024
Al-Saud Bandar, Alajlan Huda, Alruwaili Hibah, Almoaibed Latifa, Al-Mazrou Amer, Ghebeh Hazem, Al-Alwan Monther, Alazami Anas M
Abstract excerpt
Mutations in STK4 (MST1) are implicated in a form of autosomal recessive combined immunodeficiency, resulting in recurrent infections (especially Epstein-Barr virus viremia), autoimmunity, and cardiac malformations. Here we report a patient with an atypically mild presentation of this disease, initially presenting with severe T cell lymphopenia (< 500 per mm3) and intermittent neutropenia, but now surviving well...
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