{"entity": "publication", "iuid": "06f02a31f895400a9fbd396fb8179df0", "timestamp": "2026-10-15T00:10:44.857Z", "links": {"self": {"href": "https://publications.scilifelab.se/publication/06f02a31f895400a9fbd396fb8179df0.json"}, "display": {"href": "https://publications.scilifelab.se/publication/06f02a31f895400a9fbd396fb8179df0"}}, "title": "Cellular immune endophenotypes separating early and late-onset myasthenia gravis.", "authors": [{"family": "Theorell", "given": "Jakob", "initials": "J"}, {"family": "Ruffin", "given": "Nicolas", "initials": "N"}, {"family": "Fower", "given": "Andrew", "initials": "A"}, {"family": "Sorini", "given": "Chiara", "initials": "C"}, {"family": "Ambrose", "given": "Philip", "initials": "P"}, {"family": "Damato", "given": "Valentina", "initials": "V"}, {"family": "Handunnetthi", "given": "Lahiru", "initials": "L"}, {"family": "Leite", "given": "Isabel", "initials": "I"}, {"family": "Irani", "given": "Sarosh R", "initials": "SR"}, {"family": "Brauner", "given": "Susanna", "initials": "S"}, {"family": "Handel", "given": "Adam E", "initials": "AE"}, {"family": "Piehl", "given": "Fredrik", "initials": "F"}], "type": "journal article", "published": "2026-01-09", "journal": {"title": "JCI Insight", "issn": "2379-3708", "volume": "11", "issue": "1", "issn-l": "2379-3708"}, "abstract": "The 2 main subgroups of autoimmune myasthenia gravis, a neuromuscular junction disorder associated with muscle weakness, are early- and late-onset forms, defined by onset before or after 50 years of age. Both carry acetylcholine-receptor autoantibodies but differ in sex ratios, genetics, and occurrence of disease-specific thymus inflammation. To distinguish the 2 forms by cellular immune phenotyping, we applied multimodal techniques, including deep spectral cytometric phenotyping and single-cell sequencing. Analysis of 2 independent cohorts identified immunological differences driven by 3 main lymphocyte populations. Lower frequencies of mucosa-associated invariant T cells and naive CD8+ T cells were observed in late-onset myasthenia, suggesting enhanced immune senescence. A highly differentiated, canonical NK cell population was reduced in early-onset myasthenia and negatively correlated with the degree of thymic hyperplasia. Using only the frequency of these 3 populations, correct myasthenia subgroup assignment could be predicted with 90% accuracy. These distinct immunocellular endophenotypes for early- and late-onset disease suggest differences in immunopathogenic processes. Along with demographic factors and other disease subgroup-specific features, the frequency of the identified cell subpopulations may improve clinical classification.", "doi": "10.1172/jci.insight.199679", "pmid": "41307955", "labels": {"NGI Stockholm (Genomics Production)": "Service", "National Genomics Infrastructure": "Service", "NGI Single cell": "Service", "NGI Stockholm (Genomics Applications)": "Service", "NGI Short read": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC12890496"}, {"db": "pii", "key": "199679"}], "notes": [], "created": "2026-10-14T13:22:25.564Z", "modified": "2026-10-14T13:22:25.587Z"}