IL4R - morinlab/LLMPP GitHub Wiki

bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @viganoSomaticIL4RMutations2018, @dunsCharacterizationDLBCLPMBL2021,

Overview

Mutations in IL4R have been identified in various types of B-cell lymphomas, particularly primary mediastinal large B-cell lymphoma (PMBCL) and DLBCL. IL4R is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. IL4R mutations are found in approximately 24.2% of primary PMBCL cases. These mutations are commonly single nucleotide variants in exon 8, resulting in the I242N amino acid change. This leads to constitutive activation of the JAK-STAT signaling pathway and upregulation of downstream cytokine expression profiles and B cell-specific antigens.[@viganoSomaticIL4RMutations2018; @dunsCharacterizationDLBCLPMBL2021] In DLBCL, IL4R mutations are more rare and tend to occur within the GCB subgroup.[@dunsCharacterizationDLBCLPMBL2021]

Experimental Evidence

Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a gain of function (GOF).[@viganoSomaticIL4RMutations2018]