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Científicos descubren la existencia de causas genéticas e inmunológicas de la COVID-19 grave

Oct 1, 2020adminprincipal

Más del 10 % de pacientes que desarrollan COVID-19 grave, algunos de ellos jóvenes y previamente sanos, tienen anticuerpos “erróneos” que atacan al propio sistema inmunológico y, al menos, otro 3,5% son portadores de mutaciones genéticas que afectan a su respuesta inmunológica. En ambos grupos el resultado es básicamente el mismo: los pacientes presentan un

LIGHD describes the second patient with BCL10 deficiency

Jun 4, 2020adminprincipal

Our laboratory reported in 2014, a child with broad combined immunodeficiency (CID) who was homozygous for a private BCL10 allele to have complete inherited human BCL10 deficiency. In the present study, we report the second CID patient with BCL10 mutation who was homozygous for a BCL10 variant (R88X), previously reported as a rare allele in

Created the Interdepartmental Group of Immunodeficiencies.

May 13, 2019adminprincipal

People

LIGHD is part of the organizing and scientific committee of Spanish Society for Immunology congress, Madrid 2020.

May 13, 2019adminprincipal

New research article published at Journal of Allergy and Clinical Immunology

Feb 4, 2019admin1 Commentprincipal

DNA double-strand break repair through homologous recombination in fibroblasts from a patient with autosomal recessive complete BCL10 deficiency is impaired. Given the relevance of double-strand break repair in the onset of cancer, it is important to highlight that homologous recombination is BCL10-dependent in human fibroblasts. https://www.ncbi.nlm.nih.gov/pubmed/30660642