Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID

Patients with common variable immunodeficiency associated with autoimmune cytopenia (CVID+AIC) generate few isotype-switched B cells with severely decreased frequencies of somatic hypermutations (SHMs), but their underlying molecular defects remain poorly characterized. We identified a CVID+AIC pati...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	The Journal of clinical investigation 2020-08, Vol.130 (8), p.4411-4422
Hauptverfasser:	Kuhny, Marcel, Forbes, Lisa R, Çakan, Elif, Vega-Loza, Andrea, Kostiuk, Valentyna, Dinesh, Ravi K, Glauzy, Salomé, Stray-Pedersen, Asbjorg, Pezzi, Ashley E, Hanson, I Celine, Vargas-Hernandez, Alexander, Xu, Mina LuQuing, Coban-Akdemir, Zeynep H, Jhangiani, Shalini N, Muzny, Donna M, Gibbs, Richard A, Lupski, James R, Chinn, Ivan K, Schatz, David G, Orange, Jordan S, Meffre, Eric
Format:	Artikel
Sprache:	eng
Schlagworte:	Activation-induced cytidine deaminase Amino Acid Substitution Antibodies Antigens Apoptosis Regulatory Proteins - genetics Apoptosis Regulatory Proteins - immunology B cells B-Lymphocytes - immunology B-Lymphocytes - pathology Biomedical research Cell division Cell Line Cell lines Child, Preschool Common variable immunodeficiency Common Variable Immunodeficiency - genetics Common Variable Immunodeficiency - immunology Common Variable Immunodeficiency - pathology CRISPR Cytidine deaminase Cytidine Deaminase - genetics Cytidine Deaminase - immunology Female Genetic aspects Homozygote Humans Immunoglobulin G Immunologic Memory - genetics Immunological memory Infections Lymphocytes B Memory cells Mutation Mutation, Missense Nuclear Proteins - genetics Nuclear Proteins - immunology Patients Proteins Somatic hypermutation Somatic Hypermutation, Immunoglobulin β-Catenin
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!