Abstract

Arthritis is a common reason for pediatric consultation, with a heterogeneous etiology ranging from trauma and infections to autoimmune disorders and genetically determined diseases, including inborn errors of immunity (IEI). Of particular relevance are monogenic forms of arthritis. They often present early in childhood, show more severe clinical courses, and are frequently associated with recurrent infections, multi-organ involvement, or familial clustering. Recognition of the genetic background has major clinical implications, guiding diagnostic procedures, risk assessment, and personalized therapeutic strategies. Recent genomic studies have identified monogenic causes of inflammatory arthritis, providing novel insights into disease mechanisms such as dysregulated T- and B-cell activation, abberant activation of immune response through interleukin 1 (IL-1) and interferonopathies. Treatment of monogenic arthritis is based on targeted therapies, such as IL-1 inhibitors, JAK inhibitors, abatacept, and rituximab, and in selected cases also on hematopoietic stem cell transplantation. Early recognition is crucial to prevent permanent joint damage and systemic complications. Further research and the identification of new genetic variants, therapeutic targets and genetic therapy will contribute to even better management of these rare disorders.

Key words: children, arthritis, genetics, immune system, autoimmunity, monogenic diseases, innate inflammatory response, treatment