Hye Sun Kuehn

TL;DR: The findings support the idea that CTLA4 tells the immune system when enough is enough, and Inherited human CTLA 4 haploinsufficiency demonstrates a critical quantitative role for CTLA-4 in governing T and B lymphocyte homeostasis.

TL;DR: Loss-of-function mutations in CECR1 were associated with a spectrum of vascular and inflammatory phenotypes, ranging from early-onset recurrent stroke to systemic vasculopathy or vasculitis, and were prevented by coinjection with nonmutated (but not with mutated) human C ECR1.

TL;DR: T cells from patients with heterozygous for three different germline, gain-of-function mutations in PIK3CD exhibited increased phosphorylation of the kinase Akt and hyperactivation of the metabolic checkpoint kinase mTOR, enhanced glucose uptake and terminal effector differentiation in vitro.

TL;DR: The identification and immunological characterization of a group of TYK2-deficient patients is reported and they are described as having at least some of the hallmarks of central giant cell apoptosis.

TL;DR: Heterozygous mutations in the transcription factor IKAROS caused an autosomal dominant form of CVID that is associated with a striking decrease in B-cell numbers, and was associated with acute lymphoblastic leukemia in two patients.