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
343 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 69 trials · 99 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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Can a weekly shot bring antibody levels to safety in untreated immune deficiency?
Disease control Not yet recruitingThis trial tests whether TAK-664, an antibody replacement given under the skin, can quickly raise and maintain protective IgG levels in people with primary immunodeficiency who have never received antibody therapy. Participants receive daily doses for 5 days, then a dose on day 8…
Phase 4 • Sponsor: Takeda • Aim: Disease control
Last updated Sep 10, 2026 00:00 UTC
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New hope for rare immune disorders: upadacitinib trial launches
Disease control Not yet recruitingThis study tests the drug upadacitinib (Rinvoq) in 30 people with rare genetic disorders that overactivate the JAK-STAT immune pathway. The trial has four phases over 12 months, including an open-label phase to find the best dose and a randomized withdrawal phase to compare the d…
Phase 1/2 • Sponsor: Lisa Satter • Aim: Disease control
Last updated Sep 10, 2026 00:00 UTC
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Gene fix for rare immune disease: can it stop deadly infections?
Disease control Not yet recruitingThis trial tests a gene therapy for chronic granulomatous disease (CGD), a rare immune disorder that leaves patients vulnerable to severe infections. Ten patients will receive their own stem cells modified with a lentivirus to correct the faulty gene. The goal is to restore immun…
Sponsor: Shenzhen Geno-Immune Medical Institute • Aim: Disease control
Last updated Aug 28, 2026 00:00 UTC
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Can gut bacteria help rebuild immunity after stem cell transplants?
Disease control Not yet recruitingThis trial explores whether transplanting gut bacteria from healthy donors can help restore the immune system in people who have weak immunity after a stem cell transplant. The study first observes immune recovery in patients to identify those with severe deficiency, then gives a…
Phase 1/2 • Sponsor: The First Affiliated Hospital of Soochow University • Aim: Disease control
Last updated Aug 14, 2026 00:00 UTC
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Selective cell removal may tame stem cell Transplant's dangerous side effect
Disease control Not yet recruitingThis study tests whether removing a specific type of immune cell (naive T cells) from a donor's stem cell graft can prevent graft-versus-host disease (GVHD), a serious complication where donor cells attack the recipient's body. The trial enrolls people with non-malignant blood di…
Phase 2 • Sponsor: Fred Hutchinson Cancer Center • Aim: Disease control
Last updated Jun 27, 2026 14:01 UTC
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New IVIG aims to slash infection risk for immune-deficient patients
Disease control Not yet recruitingThis study tests a new medicine called Boya IVIG in 50 people with primary immunodeficiency (CVID or XLA), a condition where the body can't fight infections well. Participants get the drug every 21 or 28 days for a year to see if it keeps serious bacterial infections below one pe…
Phase 3 • Sponsor: Azidus Brasil • Aim: Disease control
Last updated Jun 27, 2026 13:01 UTC
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Gene therapy could replace bone marrow transplants for rare immune disease
Disease control Not yet recruitingThis trial tests a gene therapy for FHL3, a rare immune disorder caused by a gene mutation. Instead of a donor stem cell transplant, patients receive their own stem cells that have been corrected with a healthy gene. The goal is to restore immune function while avoiding transplan…
Phase 1/2 • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Disease control
Last updated Jun 27, 2026 12:36 UTC
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New drug aims to stop rare blood disorder in its tracks
Disease control Not yet recruitingThis Phase II trial tests a drug called NM8074 in 12 adults with atypical hemolytic uremic syndrome (aHUS), a rare condition that causes blood clots, low platelets, and kidney injury. The drug is given by IV infusion over several weeks. The goal is to see if NM8074 can bring bloo…
Phase 2 • Sponsor: NovelMed Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 12:06 UTC
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A 5-Day genetic test could slash time to transplant for children with rare immune disease
Diagnosis Not yet recruitingThis trial tests whether a new ultra-rapid genetic test, using third-generation sequencing, can diagnose familial lymphohistiocytosis (FHL) in children within 5 days instead of the usual 6-8 weeks. FHL is a rare, life-threatening genetic condition where the immune system attacks …
Sponsor: Assistance Publique Hopitaux De Marseille • Aim: Diagnosis
Last updated Aug 05, 2026 00:00 UTC
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Could a stool sample replace a spinal tap? new study tests Non-Invasive infection detection
Diagnosis Not yet recruitingThis study will test whether analyzing stool and urine samples using a technique called metagenomics can find infections in people with weakened immune systems (due to HIV, chemotherapy, or immunosuppressive drugs). Currently, doctors often need to take invasive samples like bloo…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Diagnosis
Last updated Jun 27, 2026 12:36 UTC
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Can a common antipsychotic keep cannabis users out of the ER?
Symptom relief Not yet recruitingThis trial tests whether giving patients a prescription for haloperidol to use as needed at home can help control symptoms of cannabinoid hyperemesis syndrome — a condition marked by severe nausea, vomiting, and abdominal pain from heavy cannabis use. The goal is to see if having…
Early phase 1 • Sponsor: University of Illinois at Chicago • Aim: Symptom relief
Last updated Sep 03, 2026 00:00 UTC
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New study tests which nerve block eases pain after lung surgery best
Symptom relief Not yet recruitingThis study compares two types of nerve blocks given before lung surgery to see which one controls pain better. Sixty adults having video-assisted lung surgery will receive either a serratus posterior superior intercostal plane block or a deep serratus anterior plane block. The ma…
Sponsor: Antalya City Hospital • Aim: Symptom relief
Last updated Jun 27, 2026 12:31 UTC
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Which infusion pump do patients prefer? new study aims to find out
Symptom relief Not yet recruitingThis study looks at how patients with primary or secondary immunodeficiency feel about using mechanical versus electronic infusion pumps for their immunoglobulin therapy. About 52 adults who have used electronic pumps will try a mechanical pump for three months and then report th…
Sponsor: KORU Medical Systems, Inc. • Aim: Symptom relief
Last updated Jun 27, 2026 07:51 UTC
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Can a Life-Saving transplant leave hidden scars on a Child's mind?
Knowledge-focused Not yet recruitingThis study looks at children aged 6 to 8 who had a stem cell transplant at least two years ago to treat a primary immunodeficiency—a genetic condition that weakens the immune system. Researchers will use standardized tests and interviews to measure the children's thinking skills,…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Aug 16, 2026 00:00 UTC
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New study aims to unravel mysteries of immune disorder complications
Knowledge-focused Not yet recruitingThis study looks back at medical records of about 60 people with primary immune deficiencies who also developed lymphoproliferative disorders (abnormal growth of immune cells). The goal is to track their health over time, including risks of death, cancer, or organ damage. By iden…
Sponsor: Central Hospital, Nancy, France • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:06 UTC
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Tiny study aims to Fine-Tune antibody therapy for rare immune disorders
Knowledge-focused Not yet recruitingThis study will follow 15 people with primary antibody immunodeficiency who are receiving immunoglobulin therapy. Researchers will track changes in specific immune cells (T and B cells) and infection rates over time. The goal is to see if these cell changes can help predict how w…
Sponsor: Peking University People's Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:04 UTC
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New immune clues could unlock better b-cell cancer treatments
Knowledge-focused Not yet recruitingThis study will measure two immune system markers, CD305 and CD85d, on cancer cells from 180 people newly diagnosed with B-cell blood cancers. The goal is to see how these markers relate to different cancer types and patient outcomes. No treatment is given; the study only observe…
Sponsor: Assiut University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:03 UTC
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Massive study to uncover hidden link between blood mutations and immune disorders
Knowledge-focused Not yet recruitingThis study will follow 5,000 adults with immune system problems to see if certain blood cell mutations (called clonal hematopoiesis) are linked to their condition. Researchers will track new cases of immune-related diseases over time. No treatments or drugs are tested—this is pur…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:00 UTC
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Can hospitals boost vaccine access for the most vulnerable?
Knowledge-focused Not yet recruitingThis study will test a new way to offer vaccines to vulnerable patients—those with chronic diseases or weakened immune systems—during hospital visits. Researchers will see if offering, prescribing, and giving vaccines in the hospital increases how many people get vaccinated. The …
Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:02 UTC
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New study to measure how immune disorders impact Kids' happiness
Knowledge-focused Not yet recruitingThis study looks at how children aged 6 to 18 with inborn errors of immunity (a condition where the immune system doesn't work properly) feel about their quality of life. Researchers will compare their answers to those of healthy children using a special questionnaire. The goal i…
Sponsor: Sohag University • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:01 UTC
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Does an enlarged spleen change the outlook for low platelet patients?
Knowledge-focused Not yet recruitingThis study will look at 100 adults with low platelet counts to see how many have an enlarged spleen and whether that affects their symptoms, complications, or response to treatment. The goal is to better understand the role of the spleen in these blood disorders. No new treatment…
Sponsor: Assiut University • Aim: Knowledge-focused
Last updated Jun 26, 2026 18:59 UTC