TNF receptor superfamily member 13b ( TNFRSF13B ) hemizygosity reveals transmembrane activator and CAML interactor haploinsufficiency at later stages of B-cell development

Background Heterozygous C104R or A181E TNF receptor superfamily member 13b ( TNFRSF13B ) mutations impair removal of autoreactive B cells, weaken B-cell activation, and convey to patients with common variable immune deficiency (CVID) an increased risk for autoimmunity. How mutant transmembrane activ...

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Veröffentlicht in:	Journal of allergy and clinical immunology 2015-11, Vol.136 (5), p.1315-1325
Hauptverfasser:	Romberg, Neil, MD, Virdee, Manmeet, BS, Chamberlain, Nicolas, BS, Oe, Tyler, BA, Schickel, Jean-Nicolas, PhD, Perkins, Tiffany, MD, Cantaert, Tineke, PhD, Rachid, Rima, MD, Rosengren, Sally, MD, Palazzo, Regina, MD, Geha, Raif, MD, PhD, Cunningham-Rundles, Charlotte, MD, PhD, Meffre, Eric, PhD
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Aged, 80 and over Allergy and Immunology Antibody Formation - genetics Autoimmunity B-cell tolerance B-Lymphocytes - immunology Cell growth Child common variable immune deficiency Common Variable Immunodeficiency - immunology Ear diseases Female Flow cytometry Genes Haploinsufficiency Hemizygote Humans Immunologic Memory Ligands Lymphocyte Activation - genetics Male Medical research Middle Aged Mutation Mutation, Missense - genetics Smith-Magenis syndrome Smith-Magenis Syndrome - immunology Studies T-Lymphocytes, Regulatory - immunology TNFRSF13B transmembrane activator and CAML interactor Transmembrane Activator and CAML Interactor Protein - genetics Transmembrane Activator and CAML Interactor Protein - metabolism Young Adult
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