Whole Exome Sequencing Could Help to Distinguish Between Pediatric Systemic Lupus Erythematosus and Primary Immunodeficiency Disease

  • Samaneh Zoghi Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria. AND CeMM Research Centre for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria. AND Primary Immunodeficiency Diseases Network (PIDNet), Universal Scientific Education and Research Network (USERN), Vienna, Austria.
  • Nima Rezaei Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. AND Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. AND Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
Keywords: No keywords####

Abstract

Systemic Lupus Erythematosus (SLE) is a multi-organ autoimmunity, which could be seen in young adults; while pediatric SLE (pSLE) refers to children below the age of 10 years is less frequent. Few pSLE cases experience very early-onset form of the disease in the first year(s) of life (1). Early onset presence of the disease raises the probability of genetic etiology, especially if patients show the phenotype in the first year of life. Monogenic form of SLE has already been reported. Among them, complement deficiencies, including C1q, C2, and C4 deficiencies are one of the most frequent monogenic cause of pSLE (2,3). Complement proteins such as C1q have important role in the clearance of apoptotic debris, while cell debris maintains in the absence of these proteins, which can initiate an autoimmune response (4).

References

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Published
2018-12-25
How to Cite
1.
Zoghi S, Rezaei N. Whole Exome Sequencing Could Help to Distinguish Between Pediatric Systemic Lupus Erythematosus and Primary Immunodeficiency Disease. Acta Med Iran. 56(9):557-558.
Section
Editorial