Rheumatological Presentation of Inborn Errors of Immunity in Children: A Case Series from a Tertiary Care Center

Abstract

Inborn errors in immunity (IEI), well known as primary immunodeficiency diseases (PID) in children, have a varied spectrum of presentation. As the normal immune development is key for programming various cell responses in the body, IEI results in significant infections due to defective cell function, auto-immunity, or auto-inflammatory syndromes due to loss of self-tolerance and immune dysregulation and predisposition to lymphoid malignancies due to the defective tumor surveillance by the lymphocytes or natural killer cells. High index of suspicion and knowledge of the myriad presenting features are very important for appropriate timely diagnosis and management. We present four children with B-cell immunodeficiency syndromes with initial presentation including arthritis or auto-immunity.