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

doi:10.1016/j.jaci.2017.06.042

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

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

The Journal of allergy and clinical immunology - 1 Apr 2018

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

Abstract excerpt

BACKGROUND: 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 endoplasmic reticulum membrane. SEC61A1 is a target gene of spliced X-box binding protein 1 and strongly...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Agammaglobulinemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to B-Lymphocytes

Share to Exome

Share to Immunologic Deficiency Syndromes

Share to Plasma Cells

Share to Respiratory Tract Infections

Share to SEC Translocation Channels

Share to Unfolded Protein Response

Source

Open in PubMed Open full text

Identifiers

PMID: 28782633
DOI: 10.1016/j.jaci.2017.06.042
PMCID: PMC5797495

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1).PMID 28782633Read ↗

Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia.Semantic proximity Read ↗

Cancer associated mutations in Sec61γ alter the permeability of the ER translocase.Semantic proximity Read ↗

An arrayed CRISPR screen of primary B cells reveals the essential elements of the antibody secretion pathwaySemantic proximity Read ↗

De novo SEC61A1 mutation in autosomal dominant tubulo-interstitial kidney disease: Phenotype expansion and review of literature.Semantic proximity Read ↗

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.Semantic proximity Read ↗

Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusionSemantic proximity Read ↗

Congenital dyserythropoietic anemia type II in a newborn with a novel compound heterozygous mutation in the SEC23B: a case report and review of the literature.Semantic proximity Read ↗

De novo SEC61A1 mutation in congenital anemia and early-onset kidney disease: Case report and review of the literature.Semantic proximity Read ↗

Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing.Semantic proximity Read ↗

SEC61G Overexpression and DNA Amplification Correlates With Prognosis and Immune Cell Infiltration in Head and Neck Squamous Cell CarcinomaSemantic proximity Read ↗

SEC61G Overexpression and DNA Amplification Correlates With Prognosis and Immune Cell Infiltration in Head and Neck Squamous Cell CarcinomaSemantic proximity Read ↗

Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.