Common variable immunodeficiency clinical manifestations are shaped by presence and type of heterozygous NFKB1 variants.

Background: NFKB1 encodes p105, which is processed to p50 to mediate canonical NF-κB signaling. Though NF-κB is a central driver of inflammation and heterozygous NFKB1 variants are considered the most common monogenic etiologies of common variable immunodeficiency (CVID), few studies have explored how NFKB1 variants shape clinical course or inflammation in CVID.

Objective: We leveraged a regional cohort of CVID patients with and without heterozygous NFKB1 variants to assess how clinical and inflammatory features of CVID are shaped by the presence of these variants.

Perioperative Stroke Following Implantation of Left Ventricular Assist Device: A Retrospective Cohort Study.

Objectives: Stroke is common following left ventricular assist device (LVAD) implantation, although comprehensive data on perioperative strokes in this uncommon population is lacking. The current study aim was to characterize the presentation, features, and outcomes of perioperative cerebrovascular ischemia post-LVAD implantation at the authors' institution.

Design: Single-center retrospective cohort.

Congenital T cell activation impairs transitional to follicular B cell maturation in humans.

CTLA4-deficient patients exhibit profound humoral immune dysfunction, yet the basis for the B cell defect is not known. We observed a marked reduction in transitional to follicular B cell development in CTLA4-deficient patients, correlating with decreased CTLA4 function in regulatory T cells, increased CD40L levels in effector CD4+ T cells, and increased mTORC1 signaling in transitional B cells. Treatment of transitional B cells with CD40L was sufficient to induce mTORC1 signaling and inhibit follicular B cell maturation in vitro.

Clinical characteristics and outcome of central nervous system tumors harboring NTRK gene fusions.

Purpose: TRK fusions are detected in less than 2% of central nervous system tumors. There are limited data on the clinical course of affected patients.

Experimental Design: We conducted an international retrospective cohort study of patients with TRK fusion-driven CNS tumors.