Distinguish diseases with overlapping symptoms.

Autoimmune diseases affect 3-10% of the population.1 However, prevalence varies greatly between different diseases, as well as incidence of the same disease among different demographics.

Primary immunodeficiencies (PIDs) are inherited diseases associated with a considerable increase in susceptibility to infections.

It is known that PIDs can also predispose patients to cancer and immune diseases, including allergy, autoimmunity, and inflammation.

Autoimmune diseases involve activation of the adaptive immune system against self-antigens. They are a diverse group of disorders. Some are organ specific while others are systematic and affect multiple organ systems. The majority of autoimmune diseases involve multiple factors, both genetic and environmental. However, a minority of autoimmune diseases are monogenic and associated with a specific genetic cause.2

This gene panel helps in the diagnosis of autoimmune diseases, and in complex clinical cases, helps distinguish between diseases with overlapping symptoms to aid in risk assessment.3 This panel tests for diseases including HIV, Pneumocystosis, Nezelof’s Syndrome, Pancytopenia, Myelofibrosis, and more.

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1 Human autoimmune diseases: a comprehensive update. Wang L, Wang FS, Gershwin ME. 369-95, s.l. : J Intern Med, 2015, Vol.Oct;278(4). doi: 10.1111/joim.12395.

2 Recent insights in the epidemiology of autoimmune diseases: improved prevalence estimates and understanding of clustering of dis-eases. Cooper GS, Bynum ML, Somers EC. 197-207, s.l. : J Autoimmun, 2009, Vols. Nov-Dec;33(3-4). doi: 10.1016/j.jaut.2009.09.008.

3 Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder re-current fevers. Papa R1, Rusmini M2, Volpi S1, Caorsi R1, Picco P1, Grossi A2, Caroli F2, Bovis F3, Musso V, Obici L, Castana C, RavelliA, Van Gijn ME, Ceccherini I, Gattorno M. 344-360, s.l. : Rheumatology, 2020, Vol. Feb 1;59(2). doi: 10.1093/rheumatology/kez270.