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
345 clinical trials for this condition and its sub-types, 121 tagged with Inborn error of immunity itself.
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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 · 86 incl. sub-types
5 sub-types
- Agammaglobulinemia 16 trials · 52 incl. sub-types Sub-types →
- Hyperimmunoglobulin syndrome 0 trials · 34 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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Experimental antibody GNR-084 tested against Hard-to-Treat leukemia
Disease control Stopped earlyResearchers are testing an experimental antibody called GNR-084 in adults with B-cell acute lymphoblastic leukemia that has come back or stopped responding to treatment. The trial enrolls 14 people aged 18 to 45 who have already received at least two prior therapies. Participants…
Phase 1/2 • Sponsor: AO GENERIUM • Aim: Disease control
Last updated Sep 22, 2026 00:00 UTC
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Could a daily pill stop hereditary angioedema attacks?
Disease control Stopped earlyThis trial tests whether an experimental oral medication, deucrictibant, can reduce the number of swelling attacks in people with hereditary angioedema (HAE) types I and II. Participants take either a low or high dose of the drug or a placebo for 12 weeks, and then may continue o…
Phase 2 • Sponsor: Pharvaris Netherlands B.V. • Aim: Disease control
Last updated Aug 19, 2026 00:00 UTC
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Experimental drug for rare skin disease fails to reach goal
Disease control Stopped earlyThis early-stage trial tested a drug called DS-2325a in 9 adults with Netherton syndrome, a rare genetic condition causing severe skin redness, scaling, and allergies. The study aimed to check safety and whether the drug could help control the disease. However, the trial was term…
Phase 1/2 • Sponsor: Daiichi Sankyo • Aim: Disease control
Last updated Jun 27, 2026 12:33 UTC
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New cocktail of cancer drugs tested in desperate cases
Disease control Stopped earlyThis early-phase trial tested combinations of the drugs bevacizumab and temsirolimus, sometimes with valproic acid or cetuximab, in 154 people with advanced cancers or certain non-cancerous but progressive diseases. The main goal was to find safe doses and look for any signs that…
Phase 1 • Sponsor: M.D. Anderson Cancer Center • Aim: Disease control
Last updated Jun 27, 2026 12:32 UTC
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Experimental gene therapy aims to fix immune system in rare childhood disease
Disease control Stopped earlyThis early-phase trial tested a gene therapy for X-linked chronic granulomatous disease (X-CGD), a rare genetic disorder that leaves boys unable to fight off bacteria and fungi. The treatment involved taking the patient's own blood stem cells, adding a corrected gene, and infusin…
Phase 1/2 • Sponsor: Genethon • Aim: Disease control
Last updated Jun 27, 2026 12:06 UTC
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Experimental gene therapy targets rare immune disorder
Disease control Stopped earlyThis trial tested a gene therapy for X-linked chronic granulomatous disease (X-CGD), a rare genetic disorder that leaves boys unable to fight off infections. The treatment involved taking the patient's own blood stem cells, adding a working copy of the faulty gene, and returning …
Phase 1/2 • Sponsor: Genethon • Aim: Disease control
Last updated Jun 27, 2026 12:06 UTC
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Experimental drug TPN-101 tested in rare childhood brain disease
Disease control Stopped earlyThis study tested a drug called TPN-101 (censavudine) in people with Aicardi-Goutières syndrome, a rare genetic disorder that causes severe brain inflammation. The trial enrolled only 4 participants and aimed to see if the drug could reduce immune system overactivity and check fo…
Phase 2 • Sponsor: Transposon Therapeutics, Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:05 UTC
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Experimental drug shows promise for rare immune disorder, but study cut short
Disease control Stopped earlyThis study tested the long-term safety and effectiveness of a drug called CDZ173 in people with APDS/PASLI, a rare genetic condition that causes a weak immune system and swollen lymph nodes. The 37 participants had already taken CDZ173 or a similar drug in a previous study. The t…
Phase 2/3 • Sponsor: Pharming Technologies B.V. • Aim: Disease control
Last updated Jun 27, 2026 12:01 UTC
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Hope for rare skin disease: new drug shows promise in trial
Disease control Stopped earlyThis study tested a medicine called spesolimab for people with Netherton syndrome, a rare genetic skin condition causing severe redness and scaling. About 43 people aged 12 and older took part, receiving either the drug or a placebo. The goal was to see if spesolimab could reduce…
Phase 2/3 • Sponsor: Boehringer Ingelheim • Aim: Disease control
Last updated Jun 27, 2026 11:00 UTC
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Promising aHUS drug trial stalls after only 6 patients enrolled
Disease control Stopped earlyThis study tested a drug called narsoplimab (OMS721) for atypical hemolytic uremic syndrome (aHUS), a rare condition that causes blood clots and organ damage. The trial aimed to see if the drug could improve platelet counts and was safe for adults and adolescents. However, the st…
Phase 3 • Sponsor: Omeros Corporation • Aim: Disease control
Last updated Jun 27, 2026 08:03 UTC
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Can an eczema drug calm a rare genetic skin disease?
Symptom relief Stopped earlyNetherton syndrome is a rare genetic disorder that causes red, scaly, inflamed skin and intense itching. No targeted treatments exist, so researchers are testing dupilumab, an injectable drug already used for eczema, against a placebo in 10 adults with moderate to severe Netherto…
Phase 2/3 • Sponsor: University Hospital, Toulouse • Aim: Symptom relief
Last updated Sep 22, 2026 00:00 UTC
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Rare skin disease study seeks to understand netherton syndrome
Knowledge-focused Stopped earlyThis study aimed to collect real-world data on Netherton Syndrome, a rare genetic skin disorder. Researchers planned to follow 4 participants over 52 weeks, measuring skin severity and other symptoms. The study was terminated early, so results are limited.
Sponsor: Boehringer Ingelheim • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:03 UTC
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Yeast study in rare autoimmune disease terminated early
Knowledge-focused Stopped earlyThis study aimed to compare the types of Candida yeast found in patients with two forms of autoimmune polyendocrinopathy, a rare condition where the immune system attacks multiple glands. Researchers planned to collect samples from the mouth and urine of 7 participants to see how…
Sponsor: University Hospital, Lille • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:37 UTC