Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1) - Schubert, Desirée; Klein, Marie-Christine; Hassdenteufel, Sarah; Caballero-Oteyza, Andrés; Yang, Linlin; Proietti, Michele; Bulashevska, Alla; Kemming, Janine; Kühn, Johannes; Winzer, Sandra; Rusch, Stephan; Fliegauf, Manfred; et al. (Journal of allergy and clinical immunology, 2018)
Keywords: Activating transcription factor 1; Agammaglobulinemia - genetics; Agammaglobulinemia - metabolism; Agammaglobulinemia - pathology; antibody deficiency; B-Lymphocytes - metabolism; B-Lymphocytes - pathology; Calcium - metabolism; Calcium homeostasis; Cell Differentiation - genetics; Cell Line; Cell Line, Tumor; Cell lines; Diabetes; Disease; Endoplasmic reticulum; endoplasmic reticulum stress; Ethics; Exome - genetics; Genes; Genetic analysis; Genotype & phenotype; HEK293 Cells; HeLa Cells; Heterozygote; Homeostasis; Human subjects; Humans; Hypogammaglobulinemia; Immunoglobulins; Immunologic Deficiency Syndromes - genetics; Immunologic Deficiency Syndromes - metabolism; Kinases; Laboratories; Lymphocytes B; Lymphocytes T; Multiple myeloma; Mutation; Mutation - genetics; Phenotypes; plasma cell; Plasma Cells - metabolism; Plasma Cells - pathology; Plasmids; Polypeptides; Primary immunodeficiencies; Protein folding; Protein synthesis; protein translocation; Protein transport; Protein Transport - genetics; Proteins; Respiratory tract diseases; Respiratory Tract Infections - genetics; Respiratory Tract Infections - metabolism; Respiratory Tract Infections - pathology; SEC Translocation Channels - genetics; SEC61A1; T-Lymphocytes - metabolism; T-Lymphocytes - pathology; translocon; Tumor cell lines; Unfolded Protein Response - genetics; Germany; CD40L; IRE1A; antibody deficiency; PERK; endoplasmic reticulum stress; protein translocation; SEC61A1; CVID; translocon; UPR; CHOP; plasma cell; WT; ADTKD; MM; BAFF; multiple myeloma; IVIG; calcium homeostasis; siRNA; ER; ppl; PAD; ATF; PC; XBP1s