Primary immunodeficiencies (PIs), also known as inborn errors of immunity (IEI), are a group of 450+ rare and chronic disorders caused by genetic variants. Patients average 9-15 years from symptom onset to diagnosis and experts estimate that >70% of individuals with a PI remain undiagnosed. No matter your specialty, you may have patients with undiagnosed PI.
- Infections that are frequent, persistent, unusual, and/or difficult to treat?
- Unusual complications of common infections?
- Unusual autoimmunity?
- Enlarged lymph nodes that persist and/or hepatosplenomegaly?
- Failure to thrive (including adults)?
- Non-healing skin ulcers?
- Recurrent fevers with no source?
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Collect a detailed patient history, including family history.
Patient history: infections (site, organism, frequency, and severity), any malignancy or lymphoproliferation, frequency and severity of any autoimmune or autoinflammatory symptoms, failure to thrive or unintentional weight loss.
Family history: diagnosed PI, early childhood deaths, family members with PI-like symptoms.
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Order complete blood count with differential.
Compare absolute counts of lymphocytes, neutrophils, eosinophils, and monocytes to age-adjusted reference ranges.
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Order serum immunoglobulin (Ig) test to assess the patient’s overall IgG, IgA, and IgM levels, and antibody titers to vaccine antigens.
Some patients with PI lack functional antibodies, which can be masked by normal overall serum Ig levels. Titers to tetanus toxoid and/or pneumococcal conjugate vaccine measure specific antibody response.
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Consider referral to an immunologist/allergist even if initial diagnostic labs appear normal.
Clinician Education Program: IDF offers CME courses periodically with partner organizations. We also offer recordings of past clinical education sessions for on-demand viewing.
Consulting Immunologist Program: Have a question about a patient who may have, or has, a primary immunodeficiency? Start a free physician-to-physician consultation with a renowned clinical immunologist from our national network.
Publications: Download or order hard copies (subject to availability) of these publications, written by renowned immunologists, that contain information about the diagnosis and treatment of primary immunodeficiency. Download individual chapters from our most comprehensive publication, the IDF Patient & Family Handbook, 6th Edition.
Clinician Finder: Enter your information so that patients can find you. You can also use this tool to find doctors in other specialties who have experience with patients with primary immunodeficiencies.
Research Funding: Each year, IDF awards grants up to $50,000 to researchers to support well-defined research projects that have a specified benefit for improving the treatment, health, disease management, or diagnosis of people with PI.
If a patient has been diagnosed with PI, encourage them to check out the Immune Deficiency Foundation (IDF) through our website and social media accounts. By joining the IDF community, patients and families can access resources, educational opportunities, a community of support, and so much more.
Download as PDFs or request hard copies (subject to availability):
