Primary Immunodeficiency
Panel
Distinguish diseases with overlapping symptoms
Autoimmune diseases affect 3-10% of the population.12 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 inflam mation.
Distinguish diseases with overlapping symptoms
Autoimmune diseases involve activation of the adaptive immune system against self-antigens. They are a diverse group of disor ders. 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 associ ated with a specific genetic cause. 1
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 Syn drome, Pancytopenia, Myelofibrosis, and more.
Gene list
- BRCA1 FGB
- BARC2 MEFV
- BLM STAT3
- CFTR BTK
- BTK ATM
- F9 VPS13B
- F5 STAT1
- FANCC IFNGR1
- G6PD IFNGR2
- G6PC RAG1
- JAK2 RAG2
- MSH2 SPINK5
- MSH6 RFXANK
- MYD88 PTPRC
- PALB2 NCF1
- NRAS TNFRSF13B
- PMS2 ITGB2
- PLCG2 CYBB
- PTEN JAGN1
References
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, Ravelli A, Van Gijn ME, Ceccherini I, Gattorno M. 344-360, s.l. : Rheumatology, 2020, Vol. Feb 1;59(2). doi: 10.1093/rheumatology/kez270.
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