A Unique Heterozygous CARD11 Mutation Combines Pathogenic Features of Both Gain- and Loss-of-Function Patients in a Four-Generation Family

CARD11 is a lymphocyte-specific scaffold molecule required for proper activation of B- and T-cells in response to antigen. Germline gain-of-function (GOF) mutations in the CARD11 gene cause a unique B cell lymphoproliferative disorder known as B cell Expansion with NF-κB and T cell Anergy (BENTA). I...

Descripción completa

Detalles Bibliográficos
Autores principales: Desjardins, Marylin, Arjunaraja, Swadhinya, Stinson, Jeffrey R., Dorjbal, Batsukh, Sundaresan, Janani, Niemela, Julie, Raffeld, Mark, Matthews, Helen F., Wang, Angela, Angelus, Pamela, Su, Helen C., Mazer, Bruce D., Snow, Andrew L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6299974/
https://www.ncbi.nlm.nih.gov/pubmed/30619304
http://dx.doi.org/10.3389/fimmu.2018.02944

Ejemplares similares

Ejemplares similares