Articles with "domain deficiency" as a keyword



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MAP kinase activating death domain deficiency is a novel cause of impaired lymphocyte cytotoxicity

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Published in 2022 at "Blood Advances"

DOI: 10.1182/bloodadvances.2022008195

Abstract: Key Points • MADD-deficient cytotoxic cells display defect of degranulation, most likely due to impaired activation of RAB27A.• Patients with MADD deficiency may have a predisposition to develop HLH. read more here.

Keywords: kinase activating; death domain; activating death; domain deficiency ... See more keywords