Human BCL10 deficiency causes combined immunodeficiency with bone marrow transplantation as its only curative option. To date, there are four homozygous mutations described in the literature that were identified in four unrelated patients. We describe a fifth patient with a novel mutation and summarize what we have learned about BCL10 deficiency. Due to the severity
La deficiencia humana de BCL10 causa inmunodeficiencia combinada con trasplante de médula ósea como única opción curativa. Hasta la fecha, hay cuatro mutaciones homocigotas descritas en la literatura que se identificaron en cuatro pacientes no emparentados. Aquí describimos un quinto paciente con una nueva mutación y resumimos lo que hemos aprendido sobre la deficiencia de
LIGHD describe el primer caso de deficiencia de ezrina autosómica-recesiva en un paciente con hipogammaglobulinemia y bajas frecuencias de células B de memoria conmutada, CD4+ y CD8+ T, MAIT, γδ T y células CD4+ ingenuas centrales. Los resultados se han publicado en la revista «The Journal of Allergy and Clinical Immunology» bajo el título «Inherited
LIGHD describes the first case of autosomal-recessive ezrin deficiency in a patient with hypogammaglobulinemia and low frequencies of switched memory B, CD4+ and CD8+ T, MAIT, γδ T, and central naive CD4+ cells. The results have been published in “The Journal of Allergy and Clinical Immunology” under the title “Inherited human ezrin deficiency impairs adaptive
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