Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1)

• Published in: Journal of allergy and clinical immunology Vol. 141; no. 4; pp. 1427 - 1438
• Main Authors: 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, Schäffer, Alejandro A., Pfeffer, Stefan, Geiger, Roger, Cavalié, Adolfo, Cao, Hongzhi, Yang, Fang, Li, Yong, Rizzi, Marta, Eibel, Hermann, Kobbe, Robin, Marks, Amy L., Peppers, Brian P., Hostoffer, Robert W., Puck, Jennifer M., Zimmermann, Richard, Grimbacher, Bodo
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.04.2018; Elsevier Limited
• Subjects: 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

Primary antibody deficiencies (PADs) are the most frequent primary immunodeficiencies in human subjects. The genetic causes of PADs are largely unknown. Sec61 translocon alpha 1 subunit (SEC61A1) is the major subunit of the Sec61 complex, which is the main polypeptide-conducting channel in the endop...