Early-Onset Autoimmune Cytopenias and Progressive Immunodeficiency in a Child with a Homozygous RAG1 p.Asn803Ser Variant: A Case Report

Inborn errors of immunity (IEI) are generally classified into primary immunodeficiency disorders and disorders of immune dysregulation. The latter include conditions characterized by autoimmunity, autoinflammation, and/or lymphoproliferation, which may also be associated with recurrent infections [ 1 ]. Presence of these opposing immune features leads to significant diagnostic and management challenges.