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

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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. Click to show full 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.

Keywords: kinase activating; death domain; activating death; domain deficiency; map kinase; deficiency

Journal Title: Blood Advances
Year Published: 2022

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