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BRIEF RESEARCH REPORT article

Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1409754

Analysis of rare genetic variants in All of Us cohort patients with common variable immunodeficiency Authors

Provisionally accepted
Troy Von Beck Troy Von Beck 1*Joshy Jacob Joshy Jacob 2
  • 1 Duke University Medical Center, Duke University, Durham, United States
  • 2 Emory Vaccine Center, School of Medicine, Emory University, Atlanta, Georgia, United States

The final, formatted version of the article will be published soon.

    Common variable immunodeficiency (CVID) is a group of genetic disorders involving more than a dozen genetic loci and characterized by a deficiency in specific antibody isotypes leading to poor immune responses and recurrent infection. CVID affects approximately 1 in 10,000 to 1 in 50,000 people worldwide with substantial heterogeneity in disease severity, including asymptomatic individuals designated as hypogammaglobulinemia of undetermined significance (HGUS). As expected of humoral immunodeficiency, the molecular causes of CVID primarily affect the maturation, activation, or survival of B cells and plasma cells. In this retrospective analysis, we defined a cohort of 21 patients with a primary CVID or HGUS diagnosis in the v7 release of the All of Us Research Program database and performed gene annotation and variant effect prediction. Our analysis identified both known disease-causing variants and rare genetic variants overlapping with other immunodeficiency syndromes.

    Keywords: Common Variable Immunodeficiency, hypogammaglobulinemia of undetermined significance, All of us, pathogenicity prediction, Genetics

    Received: 31 Mar 2024; Accepted: 27 Aug 2024.

    Copyright: © 2024 Von Beck and Jacob. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Troy Von Beck, Duke University Medical Center, Duke University, Durham, United States

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.