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PubMed This is a summary of 82 peer-reviewed journal articles Updated
Immunology · Inborn Errors of Immunity

Inborn Errors of Immunity (Primary Immunodeficiency): A Patient and Family Guide

At a Glance

Inborn Errors of Immunity, previously called Primary Immunodeficiency, are genetic disorders where the immune system is missing, underactive, or overactive. This leads to frequent infections or autoimmunity. Care includes genetic diagnosis, immunoglobulin therapy, and sometimes stem cell transplants.

Welcome to the comprehensive guide for Inborn Errors of Immunity (IEI), historically known as Primary Immunodeficiency (PID). This resource is designed to help you, your family, or your caregivers understand your diagnosis, navigate the medical system, and advocate for the best possible care.

An Inborn Error of Immunity is a genetic condition where a part of the body’s immune system is either missing, underactive, or overactive. This can lead to frequent infections, but it can also cause the immune system to mistakenly attack healthy tissue (autoimmunity) or trigger unnecessary inflammation [1].

This guide translates complex immunology into clear, actionable information. You will find evidence-based facts, tailored questions to ask your doctor, and practical advice on managing your care journey.

Table of Contents

01

Understanding Your Diagnosis: An Orientation to Inborn Errors of Immunity

Learn about your Inborn Error of Immunity (primary immunodeficiency) diagnosis. Understand immune dysregulation, genetic causes, and modern treatment options.

02

Recognizing the Signs: When to Suspect an Inborn Error of Immunity

Learn the 10 warning signs of an Inborn Error of Immunity (primary immunodeficiency). Understand the SPUR criteria, immune dysregulation, and when to get tested.

03

The Blueprint of Immunity: Biology and Categories of IEI

Learn about the 10 categories of Inborn Errors of Immunity (IEI). Understand how genetic mutations cause primary immunodeficiency and alter immune behavior.

04

Navigating the Path to a Diagnosis: Tests and Genetic Screening

Learn about diagnosing primary immunodeficiency (PI). Understand newborn screening, immunoglobulin blood tests, flow cytometry, and genetic testing options.

05

Tailoring Your Care: Standard and Emerging Treatments for IEI

Learn about treatment options for Inborn Errors of Immunity (IEI). Understand IVIG and SCIG therapies, prophylactic medications, stem cell and gene therapy.

06

Building Your Care Team: Long-Term Management and Wellness

Learn how to build your primary immunodeficiency care team for long-term management. Discover lifestyle tips, organ screening schedules, and doctor questions.

Common questions in this guide

What is the difference between Inborn Errors of Immunity and Primary Immunodeficiency?
They refer to the same group of genetic conditions. The medical community shifted from Primary Immunodeficiency (PID) to Inborn Errors of Immunity (IEI) to better reflect that these disorders can cause an overactive or misdirected immune system, not just an underactive one.
What are the warning signs of an inborn error of immunity?
The most common sign is experiencing frequent, severe, or unusually stubborn infections. Other key warning signs include the immune system mistakenly attacking healthy tissue, which causes autoimmunity, or triggering unexplained inflammation in the body.
How is a primary immunodeficiency diagnosed?
Diagnosis typically involves a combination of medical history review and specialized laboratory testing. Doctors use tools ranging from early newborn screening to advanced genetic sequencing to identify exactly which part of the immune system is affected.
What are the main treatments for inborn errors of immunity?
Treatment is tailored to your specific category of disease. Common approaches include immunoglobulin therapy to provide missing antibodies, daily prophylactic medications to prevent infections, or in severe cases, a stem cell transplant to rebuild the immune system.
What should I do if I get a fever with an inborn error of immunity?
You should have a clear plan with your clinic on how to reach them immediately if you develop a fever or sudden signs of infection. Because your immune system is compromised, fevers often require prompt medical evaluation rather than waiting it out at home.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.What is the main classification or category of my inborn error of immunity?
  2. 2.What is the best way to contact the clinic if I have a fever or sudden signs of infection?
  3. 3.Can you help me connect with a patient advocacy group or support network for my specific diagnosis?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (1)
  1. 1

    Inborn Errors of Immunity.

    Baloh CH, Chong H

    The Medical clinics of North America 2024; (108(4)):703-718 doi:10.1016/j.mcna.2023.08.006.

    PMID: 38816112

This guide provides educational information about Inborn Errors of Immunity and does not replace professional medical advice. Always consult your immunologist or care team regarding your specific diagnosis, symptoms, and treatment plan.

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