One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them.

Leukopoiesis is lethally arrested in mice lacking the master transcriptional regulator PU.1. Depending on the animal model, subtotal PU.

Genotype-function-phenotype correlations for SCN1A variants identified by clinical genetic testing.

Objective: Interpretation of clinical genetic testing, which identifies a potential genetic etiology in 25% of children with epilepsy, is limited by variants of uncertain significance. Understanding functional consequences of variants can help distinguish pathogenic from benign alleles. We combined automated patch clamp recording with neurophysiological simulations to discern genotype-function-phenotype correlations in a real-world cohort of children with SCN1A-associated epilepsy.

Viral sequence determines HLA-E-restricted T cell recognition of hepatitis B surface antigen.

The non-polymorphic HLA-E molecule offers opportunities for new universal immunotherapeutic approaches to chronic infectious diseases. Chronic Hepatitis B virus (HBV) infection is driven in part by T cell dysfunction due to elevated levels of the HBV envelope (Env) protein hepatitis B surface antigen (HBsAg). Here we report the characterization of three genotypic variants of an HLA-E-binding HBsAg peptide, Env identified through bioinformatic predictions and verified by biochemical and cellular assays.

Syndemic geographic patterns of cancer risk in a health-deprived area of England.

Objectives: This study aims to analyse the geographical co-occurrence of cancers and their individual and shared risk factors in a highly deprived area of the North West of England to aid the identification of potential interventions.

Study Design: An ecological study design was employed and applied at postcode sector level in the Morecambe Bay region.

Methods: A novel spatial joint modelling framework designed to account for large frequencies of left-censored cancer data was employed.

WALANT Proximal Row Carpectomy Under Field Sterility: A Case Report and Description of Technique.

Field sterility and Wide Awake Local Anesthesia No Tourniquet (WALANT) technique is a commonly used operative technique for many hand and wrist pathologies. We present a case of a successful proximal row carpectomy using WALANT and field sterility in a minor surgery operating theatre setting. These techniques can be applied in appropriate patients to reduce the overall cost of surgery, anesthetic complications, and prolonged hospital stay.