A unique STK4 mutation truncating only the C-terminal SARAH domain results in a mild clinical phenotype despite severe T cell lymphopenia: Case report
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DOI: 10.3389/fimmu.2024.1329610
Abstract: 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… read more here.
Keywords: unique stk4; stk4 mutation; cell lymphopenia; severe cell ... See more keywords