{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["161(4)"],"submitter":["Mintoff D"],"pubmed_abstract":["<h4>Importance</h4>Variation in nicastrin (NCSTN) is associated with a monogenic subtype of hidradenitis suppurativa. Dysregulation of humoral immunity has been suggested as a potential mechanistic link between NCSTN variation and hidradenitis suppurativa. There is a paucity of biomarkers that can predict disease-associated variation.<h4>Objective</h4>To investigate whether serum immunoglobulin levels, as a surrogate marker of humoral immunity, can identify individuals with hidradenitis suppurativa who have a specific disease-associated NCSTN variant.<h4>Design, setting, and participants</h4>Maltese individuals with hidradenitis suppurativa genotyped for a disease-associated NCSTN in-frame deletion prevalent in the local patient cohort were invited to participate in this cross-sectional st"],"journal":["JAMA dermatology"],"pagination":["411-415"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11780503"],"repository":["biostudies-literature"],"pubmed_title":["Serum Immunoglobulin G Levels and Nicastrin Variation in Hidradenitis Suppurativa."],"pmcid":["PMC11780503"],"pubmed_authors":["Pace NP","Mintoff D"],"additional_accession":[]},"is_claimable":false,"name":"Serum Immunoglobulin G Levels and Nicastrin Variation in Hidradenitis Suppurativa.","description":"<h4>Importance</h4>Variation in nicastrin (NCSTN) is associated with a monogenic subtype of hidradenitis suppurativa. Dysregulation of humoral immunity has been suggested as a potential mechanistic link between NCSTN variation and hidradenitis suppurativa. There is a paucity of biomarkers that can predict disease-associated variation.<h4>Objective</h4>To investigate whether serum immunoglobulin levels, as a surrogate marker of humoral immunity, can identify individuals with hidradenitis suppurativa who have a specific disease-associated NCSTN variant.<h4>Design, setting, and participants</h4>Maltese individuals with hidradenitis suppurativa genotyped for a disease-associated NCSTN in-frame deletion prevalent in the local patient cohort were invited to participate in this cross-sectional st","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Apr","modification":"2026-06-14T06:00:41.517Z","creation":"2026-06-14T03:15:18.455Z"},"accession":"S-EPMC11780503","cross_references":{"pubmed":["39878956"],"doi":["10.1001/jamadermatol.2024.5684"]}}