Abstract
AbstractA 9-month-old infant consulted a dermatologist for facial rashes and mouth ulcerations. The initial assessment revealed lupus-type autoantibodies and the diagnosis of systemic lupus erythematosus was made at the age of 12 months. One year later, genetic results and in-depth complement analysis revealed C1q deficiency due to an autosomal recessive mutation in the C1QA gene. The patient was treated with hematopoietic stem cell transplantation which normalized C1q concentrations.
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