Article
Activating de novo monoallelic variants causing inborn errors of immunity in two unrelated children born of HIV-seroconcordant couples.
AIDS (London, England) - 1 Dec 2022
Lugo Reyes Saul O, Solórzano Suárez Andrea, Scheffler Mendoza Selma C, Xóchihua Díaz Luis, González Serrano M Edith, López Herrera Gabriela, Medina-Torres Edgar Alejandro, Cruz Ugalde Claudia I, Olguín-Calderón Diana, Berrón Ruiz Laura, Espinosa-Padilla Sara E, Yamazaki-Nakashimada Marco Antonio, Murata Chiharu
Abstract excerpt
INTRODUCTION: Around 20% of all inborn errors of immunity (IEI) are autosomal dominant or monoallelic, either by haploinsufficiency, negative dominance, or gain of function (GOF). GOF phenotypes usually include autoinflammation, autoimmunity, lymphoproliferation, allergies, and some infections. CASE SERIES: We describe the cases of two unrelated patients born of HIV-seroconcordant parents. Both patients are...
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