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Genomics Precision Diagnostic > Immunology Precision Panel > Inherited Disorders of the Complement System Precision Panel

Inherited Disorders of the Complement System Precision Panel

Inherited Disorders of the Complement System are rare disorders that predispose to bacterial infections and/or systemic lupus erythematosus (SLE). The complement system is a group of circulating proteins that participate in the innate immunity, bind to pathogens and destroys them.
Overview
Indication
Clinical Utility
Genes & Diseases
Methodology
References

Overview

  • Inherited Disorders of the Complement System are rare disorders that predispose to bacterial infections and/or systemic lupus erythematosus (SLE). The complement system is a group of circulating proteins that participate in the innate immunity, bind to pathogens and destroys them. In addition to playing an important role in host defense against infection, the complement system is a mediator in both the pathogenesis and prevention of immune complex disease such as SLE. Inherited disorders of the complement system are associated with predictable defects in complement-dependent function, as the affected individual loses not only the activity of the deficient protein, but also the functions of the proteins in the cascade. Additionally, it can also be due to heterozygous deficiency. These are generally classified in two categories: 1) integral component defects and 2) regulatory component defects.  

  • The Igenomix Inherited Disorders of the Complement System Precision Panel can be used for an accurate and directed diagnosis as well as differential diagnosis of recurrent infections ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved. 

Indication

  • The Igenomix Inherited Disorders of the Complement System Precision Panel is used for patients with a clinical diagnosis or suspicion with or without the following symptoms: 
    • Sinopulmonary bacterial infections 
    • Bacteremia 
    • Meningitis 
    • Autoimmune disorders such as SLE 

Clinical Utility

The clinical utility of this panel is: 

  • The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient. 
  • Early initiation of antimicrobial prophylaxis with antibacterial, antifungals, rapid recognition and treatment of infections as well as aggressive management of infectious complications. For those patients presenting with autoimmune disease, treatment of these patients focuses on immunosuppressive therapy.  
  • Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.  
  • Improvement of delineation of genotype-phenotype correlation.  

Genes & Diseases

Methodology

References

See scientific referrals

Schröder-Braunstein, J., & Kirschfink, M. (2019). Complement deficiencies and dysregulation: Pathophysiological consequences, modern analysis, and clinical management. Molecular Immunology, 114, 299-311. doi: 10.1016/j.molimm.2019.08.002 

Botto, M., Kirschfink, M., Macor, P., Pickering, M., Würzner, R., & Tedesco, F. (2009). Complement in human diseases: Lessons from complement deficiencies. Molecular Immunology, 46(14), 2774-2783. doi: 10.1016/j.molimm.2009.04.029 

O’Neil, K. (2000). Complement Deficiency. Clinical Reviews In Allergy & Immunology, 19(2), 83-108. doi: 10.1385/criai:19:2:83 

Leffler, J., Bengtsson, A., & Blom, A. (2014). The complement system in systemic lupus erythematosus: an update. Annals Of The Rheumatic Diseases, 73(9), 1601-1606. doi: 10.1136/annrheumdis-2014-205287 

El Sissy, C., Rosain, J., Vieira-Martins, P., Bordereau, P., Gruber, A., Devriese, M., de Pontual, L., Taha, M. K., Fieschi, C., Picard, C., & Frémeaux-Bacchi, V. (2019). Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies. Frontiers in immunology, 10, 1936. https://doi.org/10.3389/fimmu.2019.01936 

Grumach, A., & Kirschfink, M. (2014). Are complement deficiencies really rare? Overview on prevalence, clinical importance and modern diagnostic approach. Molecular Immunology, 61(2), 110-117. doi: 10.1016/j.molimm.2014.06.030 

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  • We guide you
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      • What to do if…
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    • Specialists
      • ALICE
      • EMMA
      • ERA
      • EndomeTRIO
      • EMBRACE
      • CGT
      • NACE
      • Zenit
      • PGT-A
      • PGT-M
      • POC
      • SAT
      • Newborn Screening
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      • ALICE
      • EMMA
      • ERA
      • EndomeTRIO
      • EMBRACE
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      • PGT-M
      • SAT
      • POC
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