Biallelic mutations in calcium release activated channel regulator 2A (CRACR2A) cause a primary immunodeficiency disorder

CRAC channel regulator 2 A (CRACR2A) is a large Rab GTPase that is expressed abundantly in T cells and acts as a signal transmitter between T cell receptor stimulation and activation of the Ca(2+)-NFAT and JNK-AP1 pathways. CRACR2A has been linked to human diseases in numerous genome-wide associatio...

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Detalles Bibliográficos
Autores principales: Wu, Beibei, Rice, Laura, Shrimpton, Jennifer, Lawless, Dylan, Walker, Kieran, Carter, Clive, McKeown, Lynn, Anwar, Rashida, Doody, Gina M, Srikanth, Sonal, Gwack, Yousang, Savic, Sinisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2021
Materias:
Immunology and Inflammation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8673834/
https://www.ncbi.nlm.nih.gov/pubmed/34908525
http://dx.doi.org/10.7554/eLife.72559

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