Exome sequencing revealed C1Q homozygous mutation in Pediatric Systemic Lupus Erythematosus

• S. Zoghi ^[1] ; V. Ziaee ^[1] ; T. Hirschmugl ^[2] ; R. Jimenez-Heredia ^[2] ; A. Krolo ^[2] ; K. Boztug ^[2] ; N. Rezaei ^[1]
  1. [1] Tehran University of Medical Sciences

     Tehran University of Medical Sciences

     Irán

     
  2. [2] Medical University Vienna, Austria
• Localización: Allergologia et immunopathologia: International journal for clinical and investigate allergology and clinical immunology, ISSN-e 1578-1267, ISSN 0301-0546, Vol. 46, Nº. 6, 2018, págs. 594-598
• Idioma: inglés
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• Resumen

  • Introduction and objectives Pediatric Systemic Lupus Erythematosus (pSLE) is an autoimmune disorder of children. Early disease onset raises the probability of genetic etiology and it is more severe than adult SLE.

    Patients and methods Herein an eight-year-old girl with pSLE from consanguineous parents is reported.

    Results Although she was diagnosed as pSLE since the age of two years, Whole Exome Sequencing (WES) revealed a rare stop-gained C>T mutation in C1QA gene. The variant was validated and segregated in patient and the family. Furthermore, serum levels of the C1q protein were measured and found to be much lower than normal ranges.

    Conclusions This study indicated that C1Q deficiency should be considered as a differential diagnosis of pSLE. Therefore, measurement of C1q should be recommended in all cases with pSLE.