The Intertwining Between Arthritis and Inborn Errors of Immunity

Area of Science:

• Immunology
• Rheumatology
• Genetics

Background:

• Immune dysregulation is common in inborn errors of immunity (IEIs).
• Inflammatory arthritis is an underrecognized complication across various IEI categories.
• Arthritis can be the primary presentation, complicating rheumatologic diagnoses.

Purpose of the Study:

• To review current knowledge on arthritis associated with IEIs.
• To highlight diagnostic challenges and immunopathogenic mechanisms.
• To discuss emerging therapeutic perspectives for IEI-associated arthritis.

Main Methods:

• Literature review of IEI and arthritis.
• Analysis of immunopathogenic mechanisms.
• Discussion of clinical manifestations and diagnostic criteria.

Main Results:

• Arthritis occurs in humoral immunodeficiencies, complement deficiencies, immune dysregulation disorders, and combined immunodeficiencies.
• Pathogenesis involves immune complex clearance defects, dysregulated lymphocyte responses, and aberrant cytokine signaling.
• IEI-associated arthritis mimics other rheumatic conditions but has distinct features.

Conclusions:

• Recognizing arthritis in IEIs is critical, with specific red flags prompting immunological evaluation.
• Management may involve immunosuppressants, with targeted therapies emerging based on molecular understanding.
• Further research is needed to refine diagnosis and treatment of IEI-related arthritis.