LIGHD describe el tercer paciente con deficiencia completa de BCL10 autosómica recesiva. Este paciente tiene una mutación «stop codon» que conduce a una pérdida de expresión (K63X). Los resultados se han publicado en la revista «Frontiers in Immunology» bajo el título «Clinical and immunological features of human BCL10 deficiency». Este estudio destaca la importancia del
LIGHD describes the third patient with autosomal recessive BCL10 complete deficiency. This patient has a nonsense mutation that leads to a loss of expression (K63X). Results are published in Frontiers in Immunology in a report entitled: Clinical and immunological features of human BCL10 deficiency. This report highlights the importance of early genetic diagnosis for the
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
New research article published at Journal of Allergy and Clinical Immunology
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