Article
Human BCL10 Deficiency due to Homozygosity for a Rare Allele.
Journal of clinical immunology - 1 Feb 2020
Van Den Rym Ana, Taur Prasad, Martinez-Barricarte Rubén, Lorenzo Lazaro, Puel Anne, Gonzalez-Navarro Pablo, Pandrowala Ambreen, Gowri Vijaya, Safa Amin, Toledano Victor, Cubillos-Zapata Carolina, López-Collazo Eduardo, Vela Maria, Pérez-Martínez Antonio, Sánchez-Ramón Silvia, Recio Maria J, Casanova Jean-Laurent, Desai Mukesh M, Perez de Diego Rebeca
Abstract excerpt
In 2014, a child with broad combined immunodeficiency (CID) who was homozygous for a private BCL10 allele was reported to have complete inherited human BCL10 deficiency. In the present study, we report a new BCL10 mutation in another child with CID who was homozygous for a BCL10 variant (R88X), previously reported as a rare allele in heterozygosis (minor allele frequency, 0.000003986). The mutant allele was a...
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