Inborn error of immunity
MONDO:0003778A disorder in which the immune system is unable to mount an adequate immune response.
Also known as: IEI, inborn errors of immunity, primary immunodeficiency disease, antibody deficiency syndrome, antibody deficiency syndromes, deficiency syndrome, antibody, deficiency syndrome, immunologic, deficiency syndrome, immunological
344 clinical trials for this condition and its sub-types, 121 tagged with Inborn error of immunity itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
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Sub-types of Inborn error of immunity
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Lymphoproliferative syndrome 70 trials · 100 incl. sub-types
8 sub-types
- Castleman disease 8 trials · 18 incl. sub-types Sub-types →
- Autoimmune lymphoproliferative syndrome 11 trials · 12 incl. sub-types Sub-types →
- X-linked lymphoproliferative syndrome 7 trials · 11 incl. sub-types Sub-types →
- Dianzani autoimmune lymphoproliferative disease 0 trials
- Atypical lymphoproliferative disorder 0 trials
- Lymphoproliferative syndrome 1 0 trials
- Lymphoproliferative syndrome 2 0 trials
- Severe combined immunodeficiency due to CD70 deficiency 0 trials
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B cell deficiency 5 trials · 85 incl. sub-types
5 sub-types
- Agammaglobulinemia 16 trials · 52 incl. sub-types Sub-types →
- Hyperimmunoglobulin syndrome 0 trials · 33 incl. sub-types Sub-types →
- Selective immunoglobulin deficiency disease 1 trial · 4 incl. sub-types Sub-types →
- PAX5-related B lymphopenia and autism spectrum disorder 0 trials
- Immunoglobulin beta deficiency 0 trials
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Phagocyte bactericidal dysfunction 0 trials · 37 incl. sub-types
1 sub-type
- Chronic granulomatous disease 37 trials Sub-types →
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Complement deficiency 2 trials · 28 incl. sub-types
8 sub-types
- Atypical hemolytic-uremic syndrome 19 trials Sub-types →
- Classic complement early component deficiency 0 trials · 7 incl. sub-types Sub-types →
- Disorder of lectin complement activation pathway 0 trials · 1 incl. sub-types Sub-types →
- Complement factor I deficiency 0 trials
- Complement receptor deficiency 0 trials
- Immunodeficiency due to a classical component pathway complement deficiency 0 trials Sub-types →
- Immunodeficiency due to a late component of complement deficiency 0 trials Sub-types →
- Recurrent Neisseria infections due to factor D deficiency 0 trials
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Hereditary hemophagocytic lymphohistiocytosis 8 trials · 16 incl. sub-types
11 sub-types
- Chediak-Higashi syndrome 9 trials
- Griscelli syndrome type 2 1 trial
- Familial hemophagocytic lymphohistiocytosis 3 1 trial
- Hermansky-Pudlak syndrome 2 0 trials
- Hermansky-Pudlak syndrome 9 0 trials
- Familial hemophagocytic lymphohistiocytosis 2 0 trials
- Familial hemophagocytic lymphohistiocytosis 4 0 trials
- Familial hemophagocytic lymphohistiocytosis 5 0 trials
- Familial hemophagocytic lymphohistiocytosis type 1 0 trials
- Hemophagocytic lymphohistiocytosis due to RhoG deficiency 0 trials
- Hemophagocytic lymphohistiocytosis, familial, 6 0 trials
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Aicardi-Goutieres syndrome 9 trials
10 sub-types
- Aicardi-Goutieres syndrome 1 2 trials Sub-types →
- Aicardi-Goutieres syndrome 2 0 trials
- Aicardi-Goutieres syndrome 3 0 trials
- Aicardi-Goutieres syndrome 4 0 trials
- Aicardi-Goutieres syndrome 5 0 trials
- Aicardi-Goutieres syndrome 6 0 trials
- Aicardi-Goutieres syndrome 7 0 trials
- Aicardi-Goutieres syndrome 8 0 trials
- Aicardi-Goutieres syndrome 9 0 trials
- Basal ganglia calcification, idiopathic, childhood-onset 0 trials
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Chronic mucocutaneous candidiasis 4 trials
12 sub-types
- Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome 0 trials
- Candidiasis, familial, 1 0 trials
- Candidiasis, familial, 3 0 trials
- Candidiasis, familial, 4 0 trials
- Candidiasis, familial, 6 0 trials
- Candidiasis, familial, 8 0 trials
- Candidiasis, familial, 9 0 trials
- Chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation 0 trials
- Chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation 0 trials
- Chronic mucocutaneous candidiasis due to lymphokine deficiency 0 trials
- Chronic mucocutaneous candidiasis due to monocyte chemotactic disorder 0 trials
- Immunodeficiency 51 0 trials
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Immunoglobulin heavy chain deficiency 0 trials · 2 incl. sub-types
1 sub-type
- Selective IgG subclass deficiency 2 trials
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A20 haploinsufficiency 1 trial
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BENTA disease 1 trial
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Immuno-osseous dysplasia 0 trials · 1 incl. sub-types
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2 sub-types
- Inflammatory bowel disease 25 0 trials
- Inflammatory bowel disease 28 0 trials
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NK cell deficiency 0 trials
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Say-Barber-Miller syndrome 0 trials
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T cell and NK cell immunodeficiency 0 trials
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X-linked immunoneurologic disorder 0 trials
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Dendritic cell deficiency 0 trials
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2 sub-types
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Immunodeficiency 28 0 trials
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Immunodeficiency 33 0 trials
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Immunodeficiency 37 0 trials
1 sub-type
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Immunodeficiency 39 0 trials
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Immunodeficiency 47 0 trials
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Immunodeficiency 49 0 trials
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Properdin deficiency, X-linked 0 trials
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Trichohepatoenteric syndrome 0 trials
2 sub-types
- Trichohepatoenteric syndrome 1 0 trials
- Trichohepatoenteric syndrome 2 0 trials
Most studied deeper sub-types
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Does the pfizer vaccine work as well in immunosuppressed people? new study aims to find out
Vaccine CompletedThis study looked at how well the Pfizer mRNA vaccine triggers an immune response in people with weakened immune systems compared to healthy individuals. About 539 adults received two doses of the vaccine, and researchers measured antibody levels and side effects. The goal was to…
Phase 4 • Sponsor: Karolinska University Hospital • Aim: Vaccine
Last updated Jun 27, 2026 08:01 UTC
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Could a stem cell drug tame rare immune disease?
Disease control CompletedThis early-phase study tests whether Mozobil, a drug already used to boost stem cells for transplants, can safely raise white blood cell counts in people with WHIMS. WHIMS is a rare genetic condition that traps infection-fighting cells in the bone marrow, leading to frequent infe…
Phase 1/2 • Sponsor: National Institute of Allergy and Infectious Diseases (NIAID) • Aim: Disease control
Last updated Sep 21, 2026 13:00 UTC
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Gentler transplant shows promise for kids with blood diseases
Disease control CompletedThis study tests a milder chemotherapy and immune-suppressing regimen before a stem cell transplant for children and young adults with non-malignant blood disorders like sickle cell disease or immune deficiencies. The goal is to safely achieve donor cell engraftment with fewer si…
Phase 2 • Sponsor: Children's Hospital of Philadelphia • Aim: Disease control
Last updated Jul 23, 2026 00:00 UTC
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New immune boost for rare immune disorder? small trial underway
Disease control CompletedThis study tests a drug called IgPro20, a type of immune globulin given under the skin, in adults with primary immunodeficiency who have never received such treatment. The goal is to see how the drug moves through the body and whether it is safe. Only 8 participants are enrolled,…
Phase 4 • Sponsor: CSL Behring • Aim: Disease control
Last updated Jul 18, 2026 00:00 UTC
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New antibody replacement therapy aims to shield vulnerable patients from serious infections
Disease control CompletedThis study tests a new intravenous immunoglobulin (IGIV) called PlasmaCap IG in adults and children aged 2 to 70 with primary immune deficiency diseases (PIDD). Participants receive regular infusions of the therapy for 12 months. The goal is to see if it prevents serious bacteria…
Phase 3 • Sponsor: Evolve Biologics • Aim: Disease control
Last updated Jul 02, 2026 00:00 UTC
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Rare disease drug shows promise in reducing infections
Disease control CompletedThis study tested two drugs, plerixafor and G-CSF, in 20 people with WHIM syndrome, a rare genetic condition that causes frequent infections and warts. Participants received each drug for a year and tracked their infections. The goal was to see which drug better reduced infection…
Phase 2/3 • Sponsor: National Institute of Allergy and Infectious Diseases (NIAID) • Aim: Disease control
Last updated Jun 28, 2026 00:00 UTC
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New drug shows promise for long-term immune deficiency treatment
Disease control CompletedThis study checked the long-term safety of TAK-771 in 15 Japanese patients with primary immunodeficiency disease (PID). Participants received TAK-771 injections for up to 3 years. The main goal was to monitor side effects and immune reactions. The study is now complete.
Phase 3 • Sponsor: Takeda • Aim: Disease control
Last updated Jun 27, 2026 12:35 UTC
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New antibody infusion shows promise for immune deficiency patients
Disease control CompletedThis study tested a new intravenous immunoglobulin (IVIg) treatment called Kedrion IVIg 10% in 47 people with primary immunodeficiency, a condition where the immune system cannot make enough antibodies. The goal was to see if regular infusions of this antibody therapy could preve…
Phase 3 • Sponsor: Kedrion S.p.A. • Aim: Disease control
Last updated Jun 27, 2026 12:29 UTC
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New shot option for immune deficiency shows promise in early trial
Disease control CompletedThis study tested a new medicine called TAK-881, a concentrated antibody solution given under the skin, in 65 people with primary immunodeficiency diseases (PIDD). The goal was to see how well the body absorbs it and if it is safe compared to an existing treatment (HYQVIA). Parti…
Phase 2/3 • Sponsor: Takeda • Aim: Disease control
Last updated Jun 27, 2026 09:01 UTC
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HIV patients get hepatitis a vaccine: does it work?
Disease control CompletedThis study looked at how safe and effective a hepatitis A vaccine is for people with HIV, aged 1 to 50. About 392 participants received two vaccine doses six months apart. Researchers checked their blood for antibodies and tracked any side effects for a month after each dose. The…
Phase 4 • Sponsor: LiuZhou People's Hospital • Aim: Disease control
Last updated Jun 27, 2026 08:07 UTC
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New chemo combo may lower death risk in child stem cell transplants
Disease control CompletedThis study tested two different chemotherapy drugs (Treosulfan and Busulfan) given before a stem cell transplant in 106 children with serious non-cancer diseases like immune disorders, metabolic diseases, blood disorders, and bone marrow failure. The goal was to see which drug le…
Phase 2 • Sponsor: medac GmbH • Aim: Disease control
Last updated Jun 27, 2026 08:03 UTC
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Can Omega-3 and black seed oil help beat COVID-19?
Disease control CompletedThis completed trial tested whether natural supplements like omega-3, black seed oil, Indian costus, and quinine could boost the immune system of 150 COVID-19 patients. Participants had mild to moderate symptoms and were monitored for recovery time, fever, lung inflammation, and …
Phase 2/3 • Sponsor: Beni-Suef University • Aim: Disease control
Last updated Jun 27, 2026 07:51 UTC
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VR goggles ease needle pain for kids with rare immune disorder
Symptom relief CompletedThis study tested whether watching virtual reality or a tablet video can reduce pain and fear in children aged 4-11 with primary immunodeficiency during the needle stick for their IVIG treatment. 31 children participated, and researchers measured their pain, fear, and vital signs…
Sponsor: Dr. Hatice Dönmez • Aim: Symptom relief
Last updated Jun 27, 2026 13:04 UTC
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New study aims to crack the code of autoimmune diseases
Knowledge-focused CompletedThis study is collecting blood, urine, and stool samples from 500 children with autoimmune diseases and healthy controls. Researchers will analyze these samples to find molecular patterns that could help diagnose these conditions and guide treatment decisions. The goal is to crea…
Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused
Last updated Sep 20, 2026 00:00 UTC
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Scientists hunt for allergy genes in massive screening study
Knowledge-focused CompletedThis study screened up to 1,000 people with severe allergic conditions—like anaphylaxis, eczema, and asthma—along with their relatives to find genetic causes. Researchers collected blood samples and medical history to link specific gene mutations to these diseases. No treatment w…
Sponsor: National Institute of Allergy and Infectious Diseases (NIAID) • Aim: Knowledge-focused
Last updated Sep 02, 2026 00:00 UTC
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Scientists gather clues on mysterious immune defects
Knowledge-focused CompletedThis study collected blood, saliva, stool, urine, and skin samples from 19 people with unknown or poorly understood immune system problems. The goal was to learn how different parts of the immune system work together. No treatments or drugs were tested. Participants were followed…
Sponsor: National Institute of Allergy and Infectious Diseases (NIAID) • Aim: Knowledge-focused
Last updated Aug 22, 2026 00:00 UTC
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Tiny study hunts for hidden genes behind immune failures
Knowledge-focused CompletedThis study analyzed DNA from 9 patients with primary immune deficiencies whose genetic cause was unknown. Researchers used whole exome or genome sequencing to look for new mutations that might explain their condition. The goal was to identify new inborn errors of immunity, which …
Sponsor: University of Zurich • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:29 UTC
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Are hidden immune defects causing your recurring infections? new study investigates.
Knowledge-focused CompletedThis study looked for hidden immune system problems in adults who get frequent or severe bacterial infections, like pneumonia or meningitis. Researchers screened 120 adults aged 18-65 to see how many had an undiagnosed primary immunodeficiency. The goal was to find out if these c…
Sponsor: University Hospital, Lille • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:23 UTC
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New study sheds light on pregnancy risks for women with rare immune disorders
Knowledge-focused CompletedThis study looked at 99 women with primary immune deficiency to learn more about their pregnancies and birth outcomes. Researchers tracked infections during pregnancy and after birth, as well as how well contraception worked. The goal is to help doctors give better advice to wome…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:00 UTC
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Obesity may affect immune drug dosing – study seeks answers
Knowledge-focused CompletedThis study investigates how obesity affects the way the body processes intravenous immune globulin (IVIG), a treatment for immune deficiencies. Researchers measured body composition and blood levels of IVIG in 40 obese and normal-weight patients to find the best dosing strategy. …
Sponsor: Rutgers, The State University of New Jersey • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:06 UTC
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Extreme running may temporarily weaken immune system, study suggests
Knowledge-focused CompletedThis study looked at whether running an ultratrail (a very long race) raises the risk of getting an infection afterward. Researchers followed 471 runners and their companions, asking about symptoms like fever, sore throat, and fatigue for three weeks after the race. The goal was …
Sponsor: Centre Hospitalier Universitaire de la Réunion • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:05 UTC
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Hidden lung damage common in immune deficiency patients
Knowledge-focused CompletedThis completed study in France looked at how common bronchiectasis (permanent lung damage) is in 46 adults with primary humoral immunodeficiency, a condition that weakens the immune system. Participants had a chest CT scan and lung function tests to check for bronchiectasis. The …
Sponsor: CHU de Reims • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:05 UTC
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New registry aims to unravel severe blood disorders in youth
Knowledge-focused CompletedThis completed registry study followed 80 children and young adults with severe immune cytopenias, including immune thrombocytopenia, autoimmune hemolytic anemia, and Evans syndrome. Researchers observed participants over up to 4 years to improve diagnosis and track the disease c…
Sponsor: Medical University of Graz • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:58 UTC
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Epidural safety checked for moms with rare immune disorders
Knowledge-focused CompletedThis study looked at whether epidural or spinal anesthesia during childbirth leads to more infections in women with primary immunodeficiencies (weak immune systems). Researchers tracked 30 women from a national registry for 28 days after delivery to see if they developed serious …
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 26, 2026 15:52 UTC