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JCR: Journal of Clinical Rheumatology:
doi: 10.1097/RHU.0000000000000118
Case Reports

Immune Complex-Mediated Autoimmunity in a Patient With Smith-Magenis Syndrome (del 17p11.2)

Yang, Jianying PhD, MD*; Chandrasekharappa, Settara C. PhD; Vilboux, Thierry PhD; Smith, Ann C. M. MA, DSc(Hon)§; Peterson, Erik J. MD*

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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.

© 2014 by Lippincott Williams & Wilkins, Inc.

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