Severe Combined Immunodeficiency from a Homozygous DNA Ligase 1 Mutant with Reduced Catalytic Activity but Increased Ligation Fidelity.

A cell's ability to survive and to evade cancer is contingent on its ability to retain genomic integrity, which can be seriously compromised when nucleic acid phosphodiester bonds are disrupted. DNA Ligase 1 (LIG1) plays a key role in genome maintenance by sealing single-stranded nicks that are produced during DNA replication and repair. Autosomal recessive mutations in a limited number of individuals have been previously described for this gene.

A unique STK4 mutation truncating only the C-terminal SARAH domain results in a mild clinical phenotype despite severe T cell lymphopenia: Case report.

Mutations in STK4 (MST1) are implicated in a form of autosomal recessive combined immunodeficiency, resulting in recurrent infections (especially Epstein-Barr virus viremia), autoimmunity, and cardiac malformations. Here we report a patient with an atypically mild presentation of this disease, initially presenting with severe T cell lymphopenia (< 500 per mm) and intermittent neutropenia, but now surviving well on immunoglobulins and prophylactic antibacterial treatment. She harbors a unique STK4 mutation that lies further downstream than all others reported to date.

Selection of Robotic Bariatric Surgery Candidates: a Nationwide Analysis.

Introduction: This study aims to identify risk factors associated with 30-day major complications, readmission, and delayed discharge for patients undergoing robotic bariatric surgery.

Methods: From the metabolic and bariatric surgery and accreditation quality improvement program (2015-2018) datasets, adult patients who underwent elective robotic bariatric operations were included. Predictors for 30-day major complications, readmission, and delayed discharge (hospital stay ≥ 3 days) were identified using univariable and multivariable analyses.

Implementation of the Metabolic and Bariatric Surgery Accreditation and Quality Improvement Program and outcomes of bariatric surgery.

Introduction: This study evaluates the performance of bariatric surgery prior to and after the implementation of Metabolic and Bariatric Surgery Accreditation and Quality Improvement Program (MBSAQIP).

Methods: The eras prior to (2007-2015) and after (2016-2018) the transition to MBSAQIP were compared for patients, operations and outcomes using adjusted logistic regression estimates.

Results: Thirty-day surgical (6%vs.

Multiplexed single-cell analysis reveals prognostic and nonprognostic T cell types in human colorectal cancer.

Clinical outcomes in colorectal cancer (CRC) correlate with T cell infiltrates, but the specific contributions of heterogenous T cell types remain unclear. To investigate the diverse function of T cells in CRC, we profiled 37,931 T cells from tumors and adjacent normal colon of 16 patients with CRC with respect to transcriptome, TCR sequence, and cell surface markers. Our analysis identified phenotypically and functionally distinguishable effector T cell types.