Primary Immunodeficiency Disease

Primary immunodeficiency disease (PID) refers to a group of mostly inherited conditions that involve impairment of the immune system and require ongoing management.1

Currently, more than 450 different genetic defects of PID have been identified, often presenting with hallmark recurrent and unusual infections.1,2

Also, some patients develop a higher susceptibility to noninfectious complications such as malignancies, autoimmune diseases and allergies.3

Epidemiology

The actual prevalence remains unclear, but estimates range from 390,000 to 6 million people living with PID worldwide.4 In the U.S. alone, the prevalence is thought to be as high as 50.5 cases per 100,000 people.5 Although severe forms are more frequent in infancy and early childhood, the disease may not manifest until later in life in some cases.6

Pathophysiology

PIDs are broadly classified, but antibody deficiencies represent the most common form and are characterized by impaired antibody-producing components. In the U.S., antibody deficiencies account for more than half of all PID cases (63.4%).7 Due to their unique role in antibody production, defects in B cell development and function are the main cause of antibody deficiencies. However, defects in T cells and other immune cell types that contribute to B cell activity may also be present.8

Diagnosis

PIDs are significantly underreported, and estimates suggest that 70-90% of patients are undiagnosed worldwide, largely because it is not top of mind.6 According to a U.S. survey (conducted in >1200 patients), the average time from symptom onset to diagnosis of all types of PID was 15 years.9 Diagnosing an antibody production deficit relies on a thorough medical and family history, physical examination and should be supplemented with diagnostic screening tests (e.g. complete blood count with differential white blood cell count, serum antibody levels, vaccine response) to help identify specific PID types.1,6

Navigating PID

The clinical presentation of PIDs is highly variable; however, recurrent sinopulmonary and gastrointestinal infections are particularly common.1,8,10,11 Therefore, the management approach is highly dependent on the type of defect and is largely focused on the prevention and treatment of infections, while more severe cases may require hematopoietic stem cell transplants.1,8 The mainstay treatment for primary B-cell immunodeficiencies, is replacement of serum IgG with either intravenous immunoglobulin (IVIG) or subcutaneous immunoglobulin (SCIG).1,7 If left untreated, PID can lead to hospitalizations, frequent days missed from work/school, prolonged antibiotic use, permanent organ damage or even death.10,12,13

Upcoming & Past Conferences in Allergy & Immunology

  • Upcoming

  • Past

Clinical Immunology Society (CIS), 2024

May 1 - 4, 2024 | Link to Event

Annual meeting with the goal of providing a stimulating forum with presentations and discussions on the latest advances in clinical immunology, including primary immunodeficiencies and immune dysregulatory diseases.

Professional Society for Health Economics and Outcomes Research (ISPOR), 2024

May 5 - 8, 2024 | Link to Event

Leading global conference discussing how to establish, incentivize, and share value sustainable for health systems, patients, and technology developers.

American Thoracic Society (ATS), 2024

May 17 - 22, 2024 | Link to Event

International conference showcasing the latest advances in pulmonary disease, critical illness, and sleep disorders for scientists and clinicians at all stages of their careers.

Eastern Allergy Conference (EAC), 2024

May 30 - June 2, 2024 | Link to Event

Regional annual conference discussing the most current information from top experts in allergy, asthma, and immunology.

European Academy of Allergy & Clinical Immunology (EAACI), 2024

May 31 - June 3, 2024 | Link to Event

The flagship meeting of the EAACI and the world’s largest congress specializing in the field of allergy and clinical immunology.

Peripheral Nerve Society (PNS), 2024

June 22 - 25, 2024 | Link to Event

The largest peripheral nerve meeting globally, offering the latest international research across specialties in peripheral neuropathy.

American Association of Nurse Practitioners (AANP), 2024

June 25 - 30, 2024 | Link to Event

A national conference offering exclusive continuing education, legislative policy updates, hands-on workshops, lively exhibitors, and networking opportunities for the nurse practitioner community.

Academy of Managed Care Pharmacy (AMCP), 2024

April 15 - 18, 2024

Large assembly of pharmacy and healthcare professionals dedicated to the issues of managed care pharmacy, offering immersive education sessions and keynote presentations.

American Academy of Neurology (AAN), 2024

April 13 - 18, 2024

Annual meeting in neurology promoting high quality patient-centric care in a variety of topics and specialties through various learning formats.

National Home Infusion Association (NHIA), 2024

March 23 - 27, 2024

Annual conference ideal for infusion professionals or those seeking opportunities in the industry to come together and explore the latest trends in offering home-based services.

Hereditary Angioedema International (HAEi), 2024

March 15 - 17, 2024

Every second year HAEi gathers HAE patients, caregivers, healthcare professionals, and industry representatives with a sole focus of sharing experience and knowledge on HAE topics.

Annual Meeting American Academy of Allergy Asthma and Immunology (AAAAI), 2024

February 23 - 26, 2024

Premier global educational event for allergists and immunologists, with thousands of attendees each year, discussing allergies, asthma, and immune deficiency disorders.

  • Patient-Reported Outcomes Among Patients With Hereditary Angioedema Within Underrepresented Racial or Ethnic Groups

Takhzyro® (lanadelumab-flyo)

  • Real-World Treatment Outcomes in Patients With Hereditary Angioedema Receiving Lanadelumab or Other Long-Term Prophylaxis
  • Understanding the Impact of Long-Term Prophylaxis Switches for Patients With Hereditary Angioedema

Western Society of Allergy, Asthma and Immunology (WSAAI), 2024

February 4 - 8, 2024

Annual scientific session uniting allergists, immunologists, nurses, and physician assistants aimed at maintaining the highest standard of practice in allergy care.

  • Understanding Social Determinants of Health and Outcomes in Patients With Hereditary Angioedema in the United States
  • Quality of Life Among Patients With Hereditary Angioedema Within Underrepresented Racial or Ethnic Groups

Takhzyro® (lanadelumab-flyo)

  • Real-World Quality of Life in Patients With HAE Receiving Lanadelumab or Other Long-Term Prophylaxis

American College of Allergy, Asthma & Immunology (ACAAI), 2023

November 9 - 13, 2023

Global meeting featuring thought leaders from around the world focused on advancing patient care in allergy and immunology.

  • Healthcare Experiences Prior to Hereditary Angioedema Diagnosis in Underrepresented Racial/Ethnic Groups in the United States
  • Perspectives of Medical Care Among Patients With Hereditary Angioedema Within Underrepresented Racial or Ethnic Groups

Takhzyro® (lanadelumab-flyo)

  • Real-World Outcomes in Patients With HAE Receiving Lanadelumab Long-Term Prophylaxis for 3 Years or Longer
  • Real-World Quality of Life in Patients With HAE Receiving Lanadelumab or Other Long-Term Prophylaxis

Academy of Managed Care Pharmacy Nexus (AMCP Nexus), 2023

October 16 - 19, 2023

Annual event with more than 2,500 members and non-members of the AMCP to engage on the latest innovations and most intentional networking in managed care pharmacy.

  • Healthcare Resource Use Among Individuals With Chronic Obstructive Pulmonary Disease With and Without Alpha-1 Antitrypsin Deficiency in a United States Medicare Advantage Population
  • Characteristics, Healthcare Resource Utilization, and Costs Among Patients With Multifocal Motor Neuropathy: a United States Claims Database Cohort Study

Takhzyro® (lanadelumab-flyo)

  • A Cost Model Comparing Long-Term Prophylaxis Options for Hereditary Angioedema: Lanadelumab and Berotralstat
  • Characteristics of Patients With Hereditary Angioedema on Long-Term Prophylaxis With Lanadelumab Who Did and Did Not Down-Titrate Lanadelumab During 18 Months of Treatment Persistence

ID Week, 2023

October 11 - 15, 2023

The joint annual meeting of leading global societies dedicated to infectious disease research and advances.

American College of Chest Physicians (CHEST), 2023

October 8 - 11, 2023

Annual meeting offering the most up-to-date education in pulmonary, sleep, and critical care medicine through simulation sessions and original research presentations with clinical relevance to practitioners.

Immunoglobulin National Society (IgNS), 2023

October 5 - 8, 2023

National conference of IgNS bringing together professionals and practitioners from all disciplines and clinical specialties to advance Ig therapy practice, while providing networking and comprehensive education opportunities.

Aspen Allergy Conference (AAC), 2023

July 30 - August 3, 2023

Annual conference that invites state-of-the-art speakers from around the world to discuss basic science and clinical topics on allergy, asthma, and immunology.

European Academy of Allergy & Clinical Immunology (EAACI), 2023

June 9 - 11, 2023

The flagship meeting of the EAACI and the world’s largest congress specializing in the field of allergy and clinical immunology.

Takhzyro® (lanadelumab-flyo)

  • Clinical Outcomes and Quality of Life in Patients With HAE Receiving Lanadelumab Long-Term Prophylaxis: Interim Analysis of 3-Year Real-World Data

American Society of Clinical Oncology (ASCO), 2023

June 2 - 6, 2023

Annual meeting providing a forum for oncology professionals, patient advocates, and industry representatives to learn about and discuss the important issues in cancer care across a variety of disease sites, treatment approaches, and disciplines.

Eastern Allergy Conference (EAC), 2023

June 1 - 4, 2023

Regional annual conference discussing the most current information from top experts in allergy, asthma, and immunology.

American Thoracic Society (ATS), 2023

May 19 - 24, 2023

International conference showcasing the latest advances in pulmonary disease, critical illness, and sleep disorders for scientists and clinicians at all stages of their careers.

  • Machine-learning Model Identifies Patients With Alpha-1 Antitrypsin Deficiency (AATD): Expert Validation and Comparison of Journeys For Patients With AATD Versus Chronic Obstructive Pulmonary Disease
  • Machine-learning Model Identifies Patients With High Probability of Alpha-1 Antitrypsin Deficiency Across the United States
  • Survey of Diagnostic Journey, Treatment Experience, and Impact on Daily Living of Patients with Alpha-1 Antitrypsin Deficiency

Clinical Immunology Society (CIS), 2023

May 18 - 21, 2023

Annual meeting with the goal of providing a stimulating forum with presentations and discussions on the latest advances in clinical immunology, including primary immunodeficiencies and immune dysregulatory diseases.

  • Patterns of IgG Testing and Rates of Hypogammaglobulinemia in Patients With Chronic Lymphocytic Leukemia or Small Lymphocytic Lymphoma

Professional Society for Health Economics and Outcomes Research (ISPOR), 2023

May 7 - 10, 2023

Leading global conference discussing how to establish, incentivize, and share value sustainable for health systems, patients, and technology developers.

Medication Resources

HyQvia®

[Immune Globulin Infusion 10% (Human) with Recombinant Human Hyaluronidase] Solution

Videos

 

Watch videos focused on Primary Immunodeficiency Disease [PID (IEI)].

PID (IEI) Mechanism of Disease Overview

Learn about the cause of Primary Immunodeficiency Disease (PID)/Inborn Errors of Immunity (IEI) in this animated video.

Additional Resources

 

Find materials to help foster a deeper understanding of Primary Immunodeficiency Disease [PID (IEI)].

Health Disparities in PID (IEI) Fact Sheet

An overview of the overall health disparities and their impact on PID (IEI) patients.

PID (IEI) Diagnosis Fact Sheet

An overview of PID (IEI) diagnosis including testing, impact of delayed diagnosis, and co-ordinating care.

PID (IEI) Disease Awareness Fact Sheet

An overview of PID (IEI) epidemiology, pathophysiology, signs and symptoms, and burden of disease.