Primary immunodeficiency disorders (PIDD): Present management and ongoing needs

Primary immunodeficiency disorders (PIDD) comprise a group of 430 different known inborn errors of immunity. The heterogeneous etiology of PIDD leads to a vast array of clinical presentations, including infection, malignancy, autoimmunity, and inflammation. Once thought to be exceedingly rare, PIDD is increasingly being recognized as an underdiagnosed disease affecting between one in 1,000 to one in 5,000 births.

Because a significant percentage of people with PIDD are undiagnosed, improving the recognition of PIDD signs and symptoms necessarily forms the foundation of PIDD-focused medical education efforts. Early treatment improves outcomes and health-related quality of life in children and adults with PIDD, yet time from symptom onset to diagnosis can exceed 4 years. Diagnostic lag has serious consequences for many patients with PIDD due to recurrent infections, which may take a toll on pulmonary function. In a large-scale analysis of patients with common variable immunodeficiency, a common form of PIDD, risk of death increased by 1.7% each year of diagnostic delay.  The most up-to-date guidance around the classification of PIDD and how to determine related genetic tests has been published relatively recently. Communicating related information to HCPs in a timely manner is a demonstrated need.

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Primary immunodeficiency disorders (PIDD) comprise a group of 430 different known inborn errors of immunity. The heterogeneous etiology of PIDD leads to a vast array of clinical presentations, including infection, malignancy, autoimmunity, and inflammation. Once thought to be exceedingly rare, PIDD is increasingly being recognized as an underdiagnosed disease affecting between one in 1,000 to one in 5,000 births.

Because a significant percentage of people with PIDD are undiagnosed, improving the recognition of PIDD signs and symptoms necessarily forms the foundation of PIDD-focused medical education efforts. Early treatment improves outcomes and health-related quality of life in children and adults with PIDD, yet time from symptom onset to diagnosis can exceed 4 years. Diagnostic lag has serious consequences for many patients with PIDD due to recurrent infections, which may take a toll on pulmonary function. In a large-scale analysis of patients with common variable immunodeficiency, a common form of PIDD, risk of death increased by 1.7% each year of diagnostic delay.  The most up-to-date guidance around the classification of PIDD and how to determine related genetic tests has been published relatively recently. Communicating related information to HCPs in a timely manner is a demonstrated need.

Learning Objectives

By the end of the session the participant will be able to:

  • Recall best practices in and challenges associated with the diagnosis of patients with PIDD.
  • Describe the pathophysiology of PIDD such that it informs treatment mechanisms.
  • List present treatment options for PIDD and describe factors impacting treatment decision-making.
  • Formulate a treatment plan for a patient with PIDD.

Target Audience

The following HCPs: Adult and adolescent immunologists and internal medicine specialists; physician assistants, nurse practitioners, and pharmacists who practice in the aforementioned areas of specialty; and any other HCPs with an interest in or who clinically encounter patients with PIDD.

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