Baseline factors associated with death in a COVID-19 hospital cohort, Sao Paulo, 2020

This study aimed to verify socio-demographic and baseline clinical factors associated with death in a hospital cohort of patients with COVID-19. A retrospective cohort study was conducted between February and December 2020 in a university hospital in the city of São Paulo, using Hospital Epidemiology Center data. RT-PCR-positive patients were selected to compose the sample (n = 1,034). At the end of the study, 362 (32%) patients died. In this cohort, age equal to or greater than sixty years (HR = 1.49) and liver disease (HR = 1.81) were independent risk factors for death from COVID-19 associated with higher in-hospital mortality

Agammaglobulinemia due to p.E555K <i>TCF3 </i>Dominant-Negative Variant

Transcription factor 3 (TCF3) dominant negative (DN) variant causes autosomal dominant (AD) E47 transcription factor deficiency. AD E47 transcription factor deficiency is an inborn error of immunity characterized by B-cell deficiency and agammaglobulinemia. Only the p.E555K variant has been reported as the causative variant in this disease. In this study, we describe the first Asian patient with wide phenotypes due to the p.E555K variant and highlight the unique features that contribute to the exclusivity of this variant. The patient was a 25-year-old male presenting with B-cell deficiency, agammaglobulinemia, and mild facial dysmorphic features. We confirmed the diagnosis of AD E47 transcription factor deficiency by the identification of a heterozygous missense variant c.1663G &gt;A; p.E555K in the TCF3 gene. Alanine scanning of the E47 basic region revealed the structural Utsumi T, et al.3 significance of position 555. In addition, a comprehensive mutational analysis centered on position 555 found that only the amino acid substitution for lysine has a potent DN effect. Structurally the change from glutamic acid to lysine at position 555 not only abolished hydrogen bonds related to the protein-DNA interaction but also inverted the charge in the E47 protein surface. Our study reveals a partial aspect of the exclusivity of the E555K in the TCF3 DN variant