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.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have