Two papers of The COVID Human Genetic Effort have been selected by Nature among the top 10 discoveries of 2020, across scientific fields. https://www.nature.com/articles/d41586-020-03514-8
LIGHD has been awared as best poster presentation in the ESID 2020 Online Meeting – E-Poster Discussion Session: Genetics in PID.
The researchers found that more than 10% of people who develop severe COVID-19 have misguided antibodies―autoantibodies―that attack the immune system rather than the virus that causes the disease. Another 3.5% or more of people who develop severe COVID-19 carry a specific kind of genetic mutation that impacts immunity. Consequently, both groups lack effective immune responses
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
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