A disorder in which the immune system is unable to mount an adequate immune response.
Comprehensive, easy-to-understand information about this condition
How we create this content →The limited documentation surrounding inborn errors of immunity is largely due to the rarity of these conditions, which affects fewer than 10 individuals per 100,000. This extreme rarity results in a lack of systematic clinical studies and comprehensive phenotype documentation. Additionally, the genetic basis of these disorders has only recently begun to be explored, leading to ongoing efforts to better characterize the clinical features.
To navigate your condition effectively, seek a specialist with expertise in immunology, particularly one focused on primary immunodeficiencies. Consider reaching out to patient organizations such as the Advocacy & Awareness for Immune Disorders Association (https://godoaaida.org) and the International Patient Organization for Primary Immunodeficiencies (https://ipopi.org) for support and resources. Additionally, inquire about participation in patient registries or natural history studies that may be available for individuals with inborn errors of immunity.
Currently, there are 14 active clinical trials investigating various aspects of inborn errors of immunity. These trials may offer opportunities for patients to participate in research aimed at improving understanding and treatment of the condition. For more details, you can explore the active studies at ClinicalTrials.gov: https://clinicaltrials.gov/search?cond=inborn%20error%20of%20immunity.
Actionable guidance for navigating care for inborn error of immunity
To navigate your condition effectively, seek a specialist with expertise in immunology, particularly one focused on primary immunodeficiencies. Consider reaching out to patient organizations such as the Advocacy & Awareness for Immune Disorders Association (https://godoaaida.org) and the International Patient Organization for Primary Immunodeficiencies (https://ipopi.org) for support and resources. Additionally, inquire about participation in patient registries or natural history studies that may be available for individuals with inborn errors of immunity.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the inborn error of immunity community
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 1, 2026
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.
AI-curated news mentioning inborn error of immunity
Updated Feb 6, 2026
Recent advancements in gene therapy show promise for treating rare diseases such as inborn errors of immunity, metabolism disorders, haemoglobinopathies, and inherited blindness. However, despite successful clinical results, access to these therapies remains limited.