Clinical manifestations in these patients were heterogeneous, encompassing constitutional symptoms and CRP elevation (83.3%), skin lesions (urticaria, erythema nodosum, Sweet-like rash) and DVT (50% each), chondritis and periorbital oedema (33.3% each), and anaemia, arthritis, serositis, and polymyalgia rheumatica (16.6% each). The gene discussed is CRP; the disease is Arthritis.