Alternative UNC13D Promoter Encodes a Functional Munc13-4 Isoform Predominantly Expressed in Lymphocytes and Platelets

Alternative UNC13D Promoter Encodes a Functional Munc13-4 Isoform Predominantly Expressed in Lymphocytes and Platelets

Autosomal recessive mutations in genes required for cytotoxicity are causative of a life-threatening, early-onset hyperinflammatory syndrome termed familial hemophagocytic lymphohistiocytosis (FHL). Mutations in UNC13D cause FHL type 3. UNC13D encodes Munc13-4, a member of the Unc13 protein family w...

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Bibliographic Details
Main Authors: Donatella Galgano, Tayebeh Soheili, Matthias Voss, Lamberto Torralba-Raga, Bianca Tesi, Frank Cichocki, Isabelle Andre, Jens Rettig, Marina Cavazzana, Yenan Bryceson
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-06-01
Series:Frontiers in Immunology
Subjects:
UNC13D
primary immunodeficiency
familial hemophagocytic lymphohistiocytosis type 3
intronic mutation
alternative intronic promoter/isoform
lymphocyte cytotoxicity
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2020.01154/full

Internet

https://www.frontiersin.org/article/10.3389/fimmu.2020.01154/full

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