Immune complex-mediated autoimmunity in a patient with smith-magenis syndrome (del 17p11.2)

Jianying Yang, Settara C. Chandrasekharappa, Thierry Vilboux, Ann C M Smith, Erik J. Peterson

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)291-293
Number of pages3
JournalJournal of Clinical Rheumatology
Issue number5
StatePublished - Aug 2014


  • Antiphospholipid antibody syndrome
  • Autoimmune hepatitis
  • Autoimmunity
  • Del 17p11.2
  • Smith-Magenis syndrome
  • Systemic lupus erythematosus


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