From Hidden Clues to Future Breakthroughs: Advancing Diagnosis, Treatment, and Innovation in Primary Immunodeficiency (PI) Care

Primary Immunodeficiency (PI) disorders are a group of more than 180 inherited disorders, of the approximately 550 inborn errors of immunity (IEIs), that predispose affected patients to a variety of bacterial, viral, and fungal infections. Infections may be more prolonged or severe in patients with PI when compared with immunocompetent patients infected with the same organisms.^1,2 Early detection of PI and appropriate short- and long-term management of patients with these conditions have been shown to significantly reduce morbidity and mortality.^3,4 However, on average it takes 9-15 years to achieve a diagnosis. Pediatric clinicians should be familiar with the history and clinical characteristics that indicate a potential PI and warrant an initial evaluation and/or a referral to an immunologist for evaluation.

It is estimated that between one in 500 to one in 1,200 people in the United States have a PI, amounting to approximately 250,000 cases.^5,6 However, there may be as many as 500,000 undiagnosed additional cases, as evidence suggests that these diagnoses often go unrecognized.⁷

At the conclusion of this activity, learners will be able to better:

• Identify typical and atypical clinical presentations of PI to improve early and accurate diagnosis.
• Differentiate among therapies available for the treatment of PI as part of optimal, personalized care.
• Evaluate the potential role of precision medicine in the care of patients with PI.
• Assess the use of advanced technologies including misconceptions and ethics in the management of patients with PI.
• Develop strategies to document and address barriers to access for therapies for patients with PI.
• Develop team-based communication strategies to improve holistic care and treatment decision-making for patients with PI.

Supported by educational grants from ADMA Biologics, Grifols, and Takeda Pharmaceuticals USA, Inc.

Emerging immunologists, community clinicians, and immuno-adjacent clinicians, including but not limited to allergists, rheumatologists, ENT specialists, internists, pulmonologists, gastroenterologists, and other healthcare professionals in primary care settings

*All identified conflicts of interest have been mitigated.

Unlabeled Use Disclosure
Faculty of this CME/CE activity may include discussions of products or devices that are not currently labeled for use by the FDA. The faculty have been informed of their responsibility to disclose to the audience if they will be discussing off-label or investigational uses (any uses not approved by the FDA) of products or devices. CME Outfitters, LLC, the faculty, planners, and reviewers do not endorse the use of any product outside of the FDA labeled indications. Medical professionals should not utilize the procedures, products, or diagnosis techniques discussed during this activity without evaluation of their patient for contraindications or dangers of use.

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