Pediatric and Adult IEI
Find answers with exome testing for inborn errors of immunity
Inborn errors of immunity can present as recurrent or severe infections, autoimmunity, autoinflammatory disease, allergy, bone marrow failure, or malignancy. Exome sequencing can help uncover a genetic diagnosis to clarify clinical management for pediatric and adult patients.
IEIs are more common than many realize:
- The estimated incidence is 1 in 1,666.1
- That is roughly 200,000 people in the United States, likely an underestimate due to underdiagnosis.
Genomic sequencing can resolve patients’ questions and inform their care
For those with inborn errors of immunity (IEIs), genomic testing offers a powerful way to uncover answers and inform treatment.
Start with exome. Start with clarity.
For up to 75% of patients with inborn errors of immunity, genetic testing can change their diagnosis,2 helping to clarify their medical condition, impact clinical management, identify new treatment options, and connect patients with support groups and other patient communities.
More than half of patients with an IEI might be provided an incorrect diagnosis based on clinical features alone.3
When provided an accurate diagnosis, individuals with IEIs can avoid serious, prolonged, sometimes life-threatening infections or autoimmunity.5,6
Therapies are available for more than 50% of patients with IEIs4
patients had a change in their clinical diagnosis and in their disease management4
had a change in outcomes4
Connect the dots with exome testing for pediatric inborn errors of immunity
Inborn errors of immunity (IEI) is a broad term describing over 550 disorders, most of which are single-gene disorders.7 IEIs can present with a variety of clinical symptoms or features. Some of these can include:8, 9
- Two or more months on antibiotics with little effect
- Failure to thrive
- Two or more deep-seated infections including septicemia
- Four or more new ear infections in a year
- Conditions related to absence of the thymus gland (congenital athymia)
- SCID
- Early onset inflammatory bowel disease (<2 years old)
The Clinical Immunology Society recommends genetic testing for diagnosis and precision treatment.11
Why choose exome testing?
Exome sequencing has a diagnostic yield of about 40% in this population, varying based on different factors including disease sub-types.12, 13
Exome sequencing looks at about 20,000 genes and the data can be reanalyzed. On the other hand, multi-gene panels are restricted to a set number of genes and require updates to keep up with latest gene discoveries. This means that newly identified disease-causing genes may not becaptured, potentially leading to missed diagnoses. Additionally, maintaining and revalidating these panels can be resource-intensive and may delay the adoption of emerging clinical insights.
Find answers with GeneDx
Our experts at GeneDx are here and ready to help. These patients can have complex presentations and GeneDx’s specialization in genomic sequencing combined with the largest rare disease data set, GeneDx Infinity,TM makes us uniquely positioned as your partner for patients with IEIs.
Start with exome. Start with clarity.
A genetic diagnosis can help define inborn errors of immunity, enabling adult patients to reach answers and better care.
For up to 75% of patients with inborn errors of immunity, genetic testing can change their diagnosis,2 helping to clarify their medical condition, impact clinical management, identify new treatment options, and connect patients with support groups and other patient communities.
More than half of patients with an IEI might be provided an incorrect diagnosis based on clinical features alone.3
Clinicians have reported that because of genetic testing
When provided an accurate diagnosis, individuals with IEIs can avoid serious, prolonged, sometimes life-threatening infections or autoimmunity.5,6
Therapies are available for more than 50% of patients with IEIs4
patients had a change in their clinical diagnosis and in their disease management4
had a change in outcomes4
Connect the dots with exome testing for inborn errors of immunity in adults
Inborn errors of immunity (IEI) is a broad term describing over 550 disorders, most of which are single-gene disorders.7 The Clinical Immunology Society recommends genetic testing for diagnosis and precision treatment.8
IEIs can present with a variety of clinical symptoms or features. Some of these can include: 9, 10
Diagnosing IEIs in adulthood can be particularly challenging as patients are often seen by various specialists and individual symptoms of the disorder are treated independently.7 While there are many symptoms of IEIs that are shared regardless of age of onset, some distinct features in adults include: 11
- Autoimmune or autoinflammatory condition(s)
- Persistent lymph node swelling, lymphoproliferation or lymphoma
- Enlarged liver or spleen
- Chronic diarrhea with weight loss
- Recurrent viral infections (colds, herpes, warts, condyloma)
- Infection with normally harmless tuberculosis-like bacteria
Primary immunodeficiency (PID)
Primary immunodeficiency (PID) refers to conditions where the immune system is simply not functioning properly due to a genetic defect.
Primary immune regulatory disorders (PIRD)
Results aPrimary immune regulatory disorders (PIRD) indicates a problem with the immune system’s regulation, often leading to autoimmune reactions alongside susceptibility to infections.s soon as 4 weeks*
Why choose exome testing?
Exome sequencing has a diagnostic yield of about 40% in this population, varying based on different factors including disease sub-types.12, 13
Exome sequencing looks at about 20,000 genes and the data can be reanalyzed. On the other hand, multi-gene panels are restricted to a set number of genes and require updates to keep up with latest gene discoveries. This means that newly identified disease-causing genes may not becaptured, potentially leading to missed diagnoses. Additionally, maintaining and revalidating these panels can be resource-intensive and may delay the adoption of emerging clinical insights.
Find answers with GeneDx
Our experts at GeneDx are here and ready to help. These patients can have complex presentations and GeneDx’s specialization in genomic sequencing combined with the largest rare disease data set, GeneDx Infinity, TM makes us uniquely positioned as your partner for patients with IEIs.
Help your patients find answers
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