Primary Immunodeficiencies are a growing group of over 400 inborn errors of immunity that range in severity from life-threatening disorders presenting in infancy to less severe disorders diagnosed in adulthood. Most patients with primary immunodeficiencies present with recurrent or chronic infections. Some disorders impact essential immunologic pathways and result in susceptibility to opportunistic organisms, whereas other disorders may cause susceptibility to a very narrow number of pathogens with a broad age of presentation. The clinical presentation is variable and includes severe or unusual infections, autoimmune diseases and malignanciesPatients with many forms of primary immunodeficiencies are at increased risk for malignancies secondary to a number of different factors, including immune dysregulation, genetic predisposition, radiation sensitivity and impaired viral clearance.
The Igenomix Primary Immunodeficiency 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.
- The Igenomix Primary Immunodeficiency Precision Panel is used for patients with a clinical diagnosis or suspicion with or without the following symptoms:
- Frequent and recurrent pneumonia, bronchitis, sinus infections, ear infections, meningitis or skin infections
- Inflammation and infection of internal organs
- Blood disorders
- Digestive problems such as cramping, loss of appetite, nausea and diarrhea
- Delayed growth and development
- Autoimmune disorders
- Family history of primary immunodeficiency
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. Early continuous surveillance due to increased risk of malignancies.
- Possibility of early immunologic reconstitution in the form of hematopoietic cell transplantation (HCT), enzyme replacement, thymic transplantation or gene therapies.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
- Improvement of delineation of genotype-phenotype correlation.
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