{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["25(1)"],"submitter":["Riess A"],"funding":["Universitätsklinikum Tübingen","Deutsche Forschungsgemeinschaft"],"pubmed_abstract":["Mulvihill-Smith Syndrome (MSS) is a clinically complex and genetically unsolved nano-rare disorder with only 12 patients reported in the literature. Most patients (91%) have immunological impairments, succumb to infection, and might develop cancer later in life. Its pathogenesis remains elusive and therapeutic options are limited. We used single-cell MULTI-omics (sc-MULTI-omics), combining transcriptomics (gene expression, TCR, and BCR repertoire) and proteogenomic (Cellular Indexing of Transcriptomes and Epitopes by Sequencing; CITE-seq), to decipher the pathophysiology of nano-rare disease patient. We report a new patient who is a 16-year-old girl. She had an increased leukocyte counts and typical manifestations of MSS such as short stature, older appearance, multiple pigmented nevi, mic"],"journal":["Functional & integrative genomics"],"pagination":["101"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12064584"],"repository":["biostudies-literature"],"pubmed_title":["sc-MULTI-omics approach in nano-rare diseases: understanding the pathophysiological mechanism of Mulvihill-Smith Syndrome."],"pmcid":["PMC12064584"],"pubmed_authors":["Selting AS","Singh Y","Casadei N","Lysenkov V","Ossowski S","Roggia C","Riess O","Riess A"],"additional_accession":[]},"is_claimable":false,"name":"sc-MULTI-omics approach in nano-rare diseases: understanding the pathophysiological mechanism of Mulvihill-Smith Syndrome.","description":"Mulvihill-Smith Syndrome (MSS) is a clinically complex and genetically unsolved nano-rare disorder with only 12 patients reported in the literature. Most patients (91%) have immunological impairments, succumb to infection, and might develop cancer later in life. Its pathogenesis remains elusive and therapeutic options are limited. We used single-cell MULTI-omics (sc-MULTI-omics), combining transcriptomics (gene expression, TCR, and BCR repertoire) and proteogenomic (Cellular Indexing of Transcriptomes and Epitopes by Sequencing; CITE-seq), to decipher the pathophysiology of nano-rare disease patient. We report a new patient who is a 16-year-old girl. She had an increased leukocyte counts and typical manifestations of MSS such as short stature, older appearance, multiple pigmented nevi, mic","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 May","modification":"2026-04-08T19:45:49.893Z","creation":"2026-04-08T14:26:18.244Z"},"accession":"S-EPMC12064584","cross_references":{"pubmed":["40343591"],"doi":["10.1007/s10142-025-01608-y"]}}