Publications by authors named "E S Lea"

Primary immunodeficiency Disorders (PIDS) are rare, mostly monogenetic conditions which can present to a number of specialties. Although infections predominate in most PIDs, some individuals can manifest autoimmune or inflammatory sequelae as their initial clinical presentation. Identifying patients with PIDs can be challenging, as some can present later in life.

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The original CRISPR Cas9 gene editing system and subsequent innovations offers unprecedented opportunities to correct severe genetic defects including those causing Primary Immunodeficiencies (PIDs). Common Variable Immunodeficiency Disorders (CVID) are the most frequent symptomatic PID in adults and children. Unlike many other PIDs, patients meeting CVID criteria do not have a definable genetic defect and cannot be considered to have an inborn error of immunity (IEI).

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Within and among species variation in trophic and habitat shifts with body size can indicate the potential adaptive capacity of species to ecosystem change. In Arctic coastal ecosystems, which experience dramatic seasonal shifts and are undergoing rapid change, quantifying the trophic flexibility of coastal fishes with different migratory tactics has received limited attention. We examined the relationships among body length and condition (Fulton's K, phase angle from Bioelectrical Impedance Analysis) with trophic and habitat shifts (differences in δN and δC between blood tissues with different turnover rates) of two abundant and culturally important species, anadromous Arctic char (Salvelinus alpinus, n = 38) and sedentary Greenland cod (Gadus ogac, n = 65) during summer in coastal marine waters near Ulukhaktok, Northwest Territories, Canada.

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Article Synopsis
  • The understanding of Common Variable Immunodeficiency Disorders (CVID) is evolving, with new diagnostic criteria enabling more precise identification of the disorder.
  • Next-generation sequencing (NGS) has revealed that many patients exhibit a genetic variant causing their symptoms, leading to a distinction between CVID and CVID-like disorders.
  • In consanguineous populations, a high percentage of severe hypogammaglobulinemia cases are linked to inherited immunity disorders, while in others, about 20-30% of patients have pathogenic genetic mutations, adding complexity to disease severity and diagnosis.
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SARS-CoV-2, the agent responsible for COVID-19, has wreaked havoc around the globe. Hundreds of millions of individuals have been infected and well over six million have died from COVID-19. Many COVID-19 survivors have ongoing physical and psychiatric morbidity, which will remain for the rest of their lives.

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