Inborn errors of Immunity and predisposition to infection by SARS-Cov-2 and the severity of COVID-19. International coordinated action. Full exomic sequencing. (project 1)

  • Funded by National Institute of Health Carlos III [El Instituto de Salud Carlos III] (ISCIII)
  • Total publications:2 publications

Grant number: COV20_01333

Grant search

Key facts

  • Disease

    COVID-19
  • Funder

    National Institute of Health Carlos III [El Instituto de Salud Carlos III] (ISCIII)
  • Principal Investigator

    Rebeca Pérez de Diego
  • Research Location

    Spain
  • Lead Research Institution

    FUNDACIÓN INVESTIGACIÓN BIOMÉDICA HOSPITAL LA PAZ
  • Research Priority Alignment

    N/A
  • Research Category

    Pathogen: natural history, transmission and diagnostics

  • Research Subcategory

    Immunity

  • Special Interest Tags

    N/A

  • Study Type

    Non-Clinical

  • Clinical Trial Details

    N/A

  • Broad Policy Alignment

    Pending

  • Age Group

    Adults (18 and older)

  • Vulnerable Population

    Unspecified

  • Occupations of Interest

    Unspecified

Abstract

SARS-Cov-2 infection is mild or even asymptomatic in many patients, but it can cause severe illness (COVID-19), mainly in patients older than 50 years, especially those with comorbidities. There are, however, young patients without risk factors with severe forms of the disease. Some of these patients may have inborn errors of immunity (diseases often with incomplete penetrance). The main objective is the sequencing of the complete exome, using massive sequencing techniques, in patients under 50 years of age in the Spanish territory without comorbidities or risk factors. The project is part of an international consortium, of which we are one of the participating groups (https://www.cvidhge.com), in which information will be shared to carry out population studies that allow progress towards precision medicine in patients with COVID-19.

Publicationslinked via Europe PMC

Last Updated:an hour ago

View all publications at Europe PMC

Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia.

Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.