Genetic & Monogenic Rheumatologic Disorders

We provide advanced evaluation for monogenic and genetically driven inflammatory and autoimmune disorders, where early diagnosis enables precision-based therapy.

Conditions Managed:

• Blau Syndrome – Inherited granulomatous disease affecting joints, eyes, and skin

• Aicardi–Goutières Syndrome – Multisystem immune-mediated disorder with neurological involvement

• COPA Syndrome – Autoimmune disease involving lungs, joints, kidneys, and immune dysregulation

• ALPS, RALD & Immune Dysregulation Syndromes – Evaluation and management of lymphoproliferation, autoimmunity, and cytopenias

• Undifferentiated Monogenic Autoimmune Disorder Awareness– Guidance on when to suspect genetic causes in early-onset, severe, or treatment-refractory disease