TY - JOUR
T1 - Immune complex-mediated autoimmunity in a patient with smith-magenis syndrome (del 17p11.2)
AU - Yang, Jianying
AU - Chandrasekharappa, Settara C.
AU - Vilboux, Thierry
AU - Smith, Ann C M
AU - Peterson, Erik J.
PY - 2014/8
Y1 - 2014/8
N2 - 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.
AB - 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.
KW - Antiphospholipid antibody syndrome
KW - Autoimmune hepatitis
KW - Autoimmunity
KW - Del 17p11.2
KW - Smith-Magenis syndrome
KW - Systemic lupus erythematosus
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U2 - 10.1097/RHU.0000000000000118
DO - 10.1097/RHU.0000000000000118
M3 - Article
C2 - 25036569
AN - SCOPUS:84905108212
SN - 1076-1608
VL - 20
SP - 291
EP - 293
JO - Journal of Clinical Rheumatology
JF - Journal of Clinical Rheumatology
IS - 5
ER -