Rheumatologic diseases in patients with inborn errors of immunity in the USIDNET registry.

Area of Science:

• Immunology
• Rheumatology
• Clinical Genetics

Background:

• A significant knowledge gap exists regarding the association between specific inborn errors of immunity (IEIs) and rheumatologic diseases.
• Understanding these associations is crucial for comprehensive patient care and management.

Purpose of the Study:

• To determine the frequency of rheumatologic conditions in a large cohort of patients with IEI.
• To identify specific IEIs associated with higher rates of rheumatologic complications.
• To analyze patterns of rheumatologic disease presentation within different IEI groups.

Main Methods:

• Utilized the United States Immunodeficiency Network (USIDNET) registry for data analysis.
• Included all patients with a diagnosed IEI and a reported rheumatologic disease.
• Analyzed demographic data and specific IEI and rheumatologic disease diagnoses.

Main Results:

• Out of 5058 IEI patients, 278 (5.49%) had a diagnosed rheumatologic disease.
• Rheumatologic complications were most frequent in interferonopathies (66.6%), autoimmune lymphoproliferative syndrome (ALPS) (13.7%), and immunoglobulin G subclass deficiency (IgGSD) (11.11%).
• Specific rheumatologic conditions varied by IEI, with examples including inflammatory myopathies in X-linked agammaglobulinemia, Sjogren's syndrome in ALPS, and systemic lupus erythematosus in chronic mucocutaneous candidiasis.

Conclusions:

• Rheumatologic diseases are common in patients with IEI, with frequencies varying by underlying IEI diagnosis.
• Clinicians should actively monitor IEI patients for potential rheumatologic complications.
• Further research is needed to guide early detection and management strategies for rheumatologic conditions in IEI patients.