MUTATIONS IN THE INTRAMEMBRANE ENDOPEPTIDASE SPPL2A AFFECT HUMORAL IMMUNITY AND B-CELL SURVIVAL BY REDUCING SURFACE BCR AND BAFF-R EXPRESSION AND AFFECTING CD74 METABOLISM

Míreanna comhchosúla

• B cell survival, surface BCR and BAFFR expression, CD74 metabolism, and CD8- dendritic cells require the intramembrane endopeptidase SPPL2A.
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• Unlocking the bottleneck in forward genetics using whole-genome sequencing and identity by descent to isolate causative mutations
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