Article
Cytokine secretion and NK cell activity in human ADAM17 deficiency.
Oncotarget - 29 Dec 2015
Tsukerman Pinchas, Eisenstein Eli M, Chavkin Maor, Schmiedel Dominik, Wong Eitan, Werner Marion, Yaacov Barak, Averbuch Diana, Molho-Pessach Vered, Stepensky Polina, Kaynan Noa, Bar-On Yotam, Seidel Einat, Yamin Rachel, Sagi Irit, Elpeleg Orly, Mandelboim Ofer
Abstract excerpt
Genetic deficiencies provide insights into gene function in humans. Here we describe a patient with a very rare genetic deficiency of ADAM17. We show that the patient's PBMCs had impaired cytokine secretion in response to LPS stimulation, correlating with the clinical picture of severe bacteremia from which the patient suffered. ADAM17 was shown to cleave CD16, a major NK killer receptor. Functional analysis of...
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