@Tangye_Lab
Scientists identify a mutant #STAT3 protein in a patient with hyper-IgE syndrome, which forms dimers with wild-type STAT3 that have impaired transcriptional activity. @JoeMackie6 @Tangye_Lab @GarvanInstitute scim.ag/3UgIqNxView quoted post on X
1/ Delighted to share our paper in @JExpMed today, led by @IrisFagniez and @ryangrui, two trainees who have both recently started exciting new chapters in their careers: MD-PhD training at @harvardmed @MIT and Assistant Professorship at @bcmhouston!View quoted post on X
rupress.org/jem/article/22…
Latest from us. Led by amazing Azzeddine Tahiat. Novel forms of CD55 deficiency. Importantly, C5 inhibition restores B cell homeostasis #CHAPLE disease @KidsAtColumbia @ColumbiaPS @Columbia rupress.org/jhi/article/2/…View quoted post on X
I am proud and honored to be a CPRIT Scholar. My lab will open at @bcmhouston and @TexasChildrens in August 2026.View quoted post on X
Please check out what we study: bcm-rui-yang-genetics.github.io/ghilab/
We are always excited to work with energetic and motivated trainees.
Since the first description of inherited CARD9 deficiency in 2009, nearly 100 patients with biallelic germline #CARD9 mutations have been reported.
doi.org/10.1172/jci.in…
Here, Erika Della Mina @ErikaDellaMina1 & team @GarvanInstitute report on a patient with severe #FungalInfections carrying a novel homozygous nonsense CARD9 variant (c.673A>T/p.K225*) that results in a truncated protein unable to mediate innate immunity, CD4+ T cell intrinsic IL-17 immunity, and Candida-specific T-cell response.
The figure: Identification of a novel homozygous nonsense K225*/K225* variant in CARD9 in a single patient with recurrent fungal infections.View quoted post on X
