Primary Immunodeficiency Disease

Not actual patients.

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

  1. Buckley RH.  Immune Deficiency Foundation Diagnostic and Clinical Care Guidelines for Primary Immunodeficiency Diseases. Third edition. IDF; 2015.
  2. IDF. About Primary Immunodeficiencies. https://primaryimmune.org/about-primary-immunodeficiencies. Accessed February 1, 2023.
  3. Tangye SG, Al-Herz W, Bousfiha A, et al. J Clin Immunol. 2020;40(1):24-64.
  4. Bousfiha AA, Jeddane L, Ailal F, et al. J Clin Immunol. 2013;33(1):1-7.
  5. Kobrynski L, Powell RW, Bowen S. J Clin Immunol. 2014;34(8):954-961.
  6. Condino-Neto A and Espinosa-Rosales FJ. Front Immunol. 2018;9:1439.
  7. Modell V, Quinn J, Orange J, et al. Immunol Res. 2016;64(3):736-753.
  8. Fried AJ and Bonilla FA. Clin Microbiol Rev. 2009;22(3):396-414.
  9. IDF. National Immunoglobulin Treatment Survey: 2013. The Third National Survey of Treatment Experiences and Preferences of Patients with Primary Immunodeficiency Diseases. IDF; 2013.
  10. Bonilla FA, Khan DA, Ballas ZK, et al. J Allergy Clin Immunol. 2015;136(5):1186-1205.
  11. Rosen FS, Cooper MD, Wedgwood RJP. N Engl J Med. 1995;333(7):431-440.
  12. Jiang F, Torgerson TR, Ayars AG. Allergy Asthma Clin Immunol. 2015;11:27.
  13. Modell F, Puente D, Modell V. Immunol Res. 2009;44(1-3):132-149.

Upcoming & Past Conferences in Allergy & Immunology

  • Upcoming

  • Past

Western Society of Allergy, Asthma and Immunology (WSAAI), 2025

February 9 - 13, 2025 | Link to Event

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

Annual Meeting American Academy of Allergy Asthma and Immunology (AAAAI), 2025

February 28 - March 3, 2025 | Link to Event

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

American Academy of Neurology (AAN), 2025

April 5 - 9, 2025 | Link to Event

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

American College of Allergy, Asthma & Immunology (ACAAI), 2024

October 24 - 28, 2024

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

Takhzyro® (lanadelumab-flyo)

  • Longitudinal Survey of Adult Patients with Hereditary Angioedema Receiving Long-Term Prophylaxis with Lanadelumab
  • Social Determinants of Health in Hereditary Angioedema and their Impact on Patient Outcomes

Immunoglobulin National Society (IgNS), 2024

October 17 - 20, 2024

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.

  • Real-World Characteristics and Disease Management for a Virtual Longitudinal Cohort of Patients with Chronic Inflammatory Demyelinating Polyneuropathy

The European Society for Immunodeficiencies (ESID), 2024

October 16 - 19, 2024

Biennial meeting that covers the latest discoveries in basic and clinical science covering our expanding field, bringing together internationally renowned scientists and clinicians to present and discuss major developments in diagnosis, clinical management, genetics, and immunobiology of inborn errors of immunity.

  • Cost-Effectiveness Of Next-Generation Sequencing Testing In Patients Eligible For Primary Immunodeficiency Screening In The United States

American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM), 2024

October 15 - 18, 2024

Annual meeting dedicated to the advancement of neuromuscular, musculoskeletal, and electrodiagnostic medicine.

  • Disease Severity and Healthcare Resource Utilization for Chronic Inflammatory Demyelinating Polyradiculoneuropathy and Multifocal Motor Neuropathy: Results from an Integrated Database

Academy of Managed Care Pharmacy Nexus (AMCP Nexus), 2024

October 14 - 17, 2024

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.

Glassia® [Alpha1- Proteinase Inhibitor (Human)]

  • Demographics and Healthcare Resource Utilization in Patients in the United States with Alpha-1 Antitrypsin Deficiency who are Treated with Glassia (Alpha-1 Proteinase Inhibitor)

Southern California Allergy Conference (SCAC), 2024

October 13 - 13, 2024

Annual congress for members of the allergy and immunology community, with a focus on HAE and PID in 2024.

Takhzyro® (lanadelumab-flyo)

  • Lanadelumab Effectiveness and Safety by Disease Activity: EMPOWER/ENABLE Pooled Analysis
  • Understanding treatment switching patterns and continuation rates for patients with hereditary angioedema receiving lanadelumab: analysis of real-world data

American College of Chest Physicians (CHEST), 2024

October 6 - 9, 2024

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.

Neuromuscular Study Group (NMSG), 2024

September 20 - 22, 2024

Annual conference aiming to advance knowledge about the cause(s), pathogenesis, epidemiology, and clinical manifestations of muscle disease and related neuromuscular disorders and to develop and implement strategies to examine promising therapeutic interventions.

  • A Quantitative Study on the Patient Journey and Experience in Patients with CIDP and MMN
  • Plasma Proteomics and Autoantibody Screening: a Tool for Patient Stratification and Monitoring CIDP Treatment Responses

Consortium of Independent Immunology Clinics (CIIC), 2024

September 13 - 14, 2024

Semi-annual conference of key opinion leaders in the Allergy, Asthma, and Immunology space.

Takhzyro® (lanadelumab-flyo)

  • Understanding treatment switching patterns and continuation rates for patients with hereditary angioedema receiving lanadelumab: analysis of real-world data

Bradykinin Symposium

September 5 - 6, 2024

International experts in the field of bradykinin discuss the genetic, molecular, and cellular drivers of angioedema.

  • Comorbid Conditions in Patients With Hereditary Angioedema: Icatibant Outcome Survey

American Association of Nurse Practitioners (AANP), 2024

June 25 - 30, 2024

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

Peripheral Nerve Society (PNS), 2024

June 22 - 25, 2024

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

  • A Quantitative Study on The Patient Journey and Experience in Patients with CIDP and MMN

HyQvia® (Human Immune Globulin 10% with Recombinant Human Hyaluronidase)

  • Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 10% For Chronic Inflammatory Demyelinating Polyradiculoneuropathy: Final Results from a Long-Term Safety and Tolerability Study

Association of Pulmonary Advanced Practice Providers (APAPP), 2024

June 20 - 22, 2024

The Association of Pulmonary Advanced Practice Providers (APAPP) is the first association to focus solely on advanced practice providers (APPs) working in the realm of pulmonary medicine. Join over 200 nurse practitioners and physician associates for in-depth reviews and discussions highlighting the latest developments and current concepts in pulmonary, critical care, and sleep medicine.

  • Overcoming Racial and Ethnic Biases in The Diagnosis of Patients with Alpha-1 Antitrypsin Deficiency in The United States Using a Machine-Learning Model

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

May 31 - June 3, 2024

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

Eastern Allergy Conference (EAC), 2024

May 30 - June 2, 2024

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

American Thoracic Society (ATS), 2024

May 17 - 22, 2024

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

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

May 5 - 8, 2024

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

Clinical Immunology Society (CIS), 2024

May 1 - 4, 2024

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.

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.

Takhzyro® (lanadelumab-flyo)

  • Comparison of Real-World Healthcare Resource Utilization and Costs Among Patients With Hereditary Angioedema on Lanadelumab or Berotralstat Long-Term Prophylaxis

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.

HyQvia® (Human Immune Globulin 10% with Recombinant Human Hyaluronidase)

  • Facilitated subcutaneous immunoglobulin 10% for CIDP: interim results from a long-term safety and tolerability study
  • Infusion-related Costs for HyQvia Compared to Hizentra in Chronic Inflammatory Demyelinating Polyradiculoneuropathy
  • Patient-reported outcomes with hyaluronidase-facilitated subcutaneous immunoglobulin 10% maintenance therapy for chronic inflammatory demyelinating polyradiculoneuropathy

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
  • Real-World Treatment Outcomes of Lanadelumab in the Prevention of Hereditary Angioedema Attacks: An Interim Analysis of a Polish Prospective, Multicenter, Observational Study (CHOPIN)
  • Real-World Treatment Patterns and Characteristics of Patients With Hereditary Angioedema Treated With Lanadelumab: Results From a US Retrospective Chart Review Study
  • Long-Term Effectiveness and Safety of Lanadelumab in Patients With Hereditary Angioedema From the United States and Canada: Final Data From the EMPOWER Study
  • Burden of Illness in Adult Patients With Controlled and Poorly Controlled Hereditary Angioedema: Findings From a Multinational Survey
  • Burden of Illness in Female and Male Adult Patients With Hereditary Angioedema: Findings From a Multinational Survey and the HELP OLE Study
  • Lanadelumab Effectiveness and Safety in Adolescent Patients With Hereditary Angioedema Aged 12 to <18 Years: Pooled Results From the Real-World ENABLE and EMPOWER Studies

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

Medication Resources

HyQvia®

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

Gammagard Liquid®

[Immune Globulin Infusion (Human)]

Cuvitru®

[Immune Globulin Subcutaneous (Human)] 20%

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.