title: Immune complex-mediated autoimmunity in a patient With Smith-Magenis syndrome (del 17p11.2).
abstract: Smith-Magenis syndrome (SMS) is a sporadic congenital disorder involving multiple organ systems caused by chromosome 17p11.2 deletions. Smith-Magenis syndrome features craniofacial and skeletal anomalies, cognitive impairment, and neurobehavioral abnormalities. In addition, some SMS patients may exhibit hypogammaglobulinemia. We report the first case of SMS-associated autoimmunity in a woman who presented with adult onset of multiple autoimmune disorders, including systemic lupus erythematosus, antiphospholipid antibody syndrome, and autoimmune hepatitis. Molecular analysis using single-nucleotide polymorphism array confirmed a de novo 3.8-Mb deletion (breakpoints, chr17: 16,660,721-20,417,975), resulting in haploinsufficiency for TACI (transmembrane activator and CAML interactor). Our data are consistent with potential loss of function for the BAFF (B cell-activating factor) receptor TACI as a contributing factor to human autoimmune phenomena.
authors.affiliation: From the*Division of Rheumatology, Department of Medicine, University of Minnesota, Minneapolis, MN; and †Cancer Genetics Branch, ‡Medical Genetics Branch, and §Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
authors.forename: Jianying
authors.initials: J
authors.lastname: Yang
authors.forename: Settara C
authors.initials: SC
authors.lastname: Chandrasekharappa
authors.forename: Thierry
authors.initials: T
authors.lastname: Vilboux
authors.forename: Ann C M
authors.initials: AC
authors.lastname: Smith
authors.forename: Erik J
authors.initials: EJ
authors.lastname: Peterson
mesh_terms: D000936:Antigen-Antibody Complex / Q000276:immunology*; D016736:Antiphospholipid Syndrome / Q000175:diagnosis / Q000188:drug therapy / Q000276:immunology*; D015551:Autoimmunity; D005260:Female; D019693:Hepatitis, Autoimmune / Q000175:diagnosis / Q000188:drug therapy / Q000276:immunology*; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D008180:Lupus Erythematosus, Systemic / Q000175:diagnosis / Q000188:drug therapy / Q000276:immunology*; D011379:Prognosis; D018570:Risk Assessment; D058496:Smith-Magenis Syndrome / Q000175:diagnosis / Q000276:immunology*; D055815:Young Adult
chemical_list: D000936:Antigen-Antibody Complex; D007166:Immunosuppressive Agents