Discover and read the best of Twitter Threads about #whitebloodcells
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We have an exciting new #preprint on @medrxivpreprint ! A novel class of #primaryimmunodeficiency, with the discovery of ITPR3 mutations in two families with combined immunodeficiency. As always, studying #PID teaches us so much about biology! 1/8
medrxiv.org/content/10.110…
medrxiv.org/content/10.110…
The work is based on patients identified @UZLeuven by Rik Schrijvers and @IsabelleMeyts. Both patients had a combined #immunodeficiency with sensitivity to infections, one complicated by peripheral #neuropathy and one by #autoimmune hemolytic anemia. Over to the gene hunters! 2/8 
Mutations in ITPR3 were identified by Erika Van Nieuwenhove and Frederik Staels. ITPR3 is part of a #Calcium channel, so we turned to the Serysheva lab @Irina52948708 to predict the impact on structure. Clear as day, the mutations change the charge of the channel. 3/8
