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