Disease · MONDO_0003778
inborn error of immunity
6 sourcesdiseases-2026-09-18-0.1.0
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ConductScience Library. inborn error of immunity. Diseases, record MONDO_0003778. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0003778
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Disease
Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.
- Other names
- IEI, Primary immunodeficiency, inborn errors of immunity, primary immunodeficiency disease
- Open Targets
- Highest stage of its drugs
- Approval, for 8 of its 29 drugs, from DailyMed, EMA Human Drugs and FDA
- Open Targets
Drugs29
The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.
| Drug | ChEMBL ID | Type | Open Targets' stage | Stage reported by | Reports | Of them trials | Trials shown here | Source |
|---|---|---|---|---|---|---|---|---|
| HUMAN IMMUNOGLOBULIN G | CHEMBL1201599 | Approval | EMA Human Drugs and FDA | 61 | 54 | 18 | Drugs and targets | |
| CIDOFOVIR | CHEMBL5314375 | Small molecule | Approval | DailyMed | 3 | 0 | 0 | Drugs and targets |
| MEGESTROL ACETATE | CHEMBL1201139 | Small molecule | Approval | DailyMed | 3 | 0 | 0 | Drugs and targets |
| FIDANACOGENE ELAPARVOVEC | CHEMBL3990034 | Gene | Approval | FDA | 1 | 0 | 0 | Drugs and targets |
| FOSCARNET SODIUM | CHEMBL754 | Small molecule | Approval | DailyMed | 1 | 0 | 0 | Drugs and targets |
| GANCICLOVIR SODIUM | CHEMBL1200850 | Small molecule | Approval | DailyMed | 1 | 0 | 0 | Drugs and targets |
| LENIOLISIB PHOSPHATE | CHEMBL3989909 | Small molecule | Approval | FDA | 1 | 0 | 0 | Drugs and targets |
| MAVORIXAFOR | CHEMBL518924 | Small molecule | Approval | EMA Human Drugs | 1 | 0 | 0 | Drugs and targets |
| LENIOLISIB | CHEMBL3643413 | Small molecule | Preapproval | EMA Human Drugs | 1 | 0 | 0 | Drugs and targets |
| HYALURONIDASE (HUMAN RECOMBINANT) | CHEMBL1201718 | Enzyme | Phase 3 | ClinicalTrials.gov | 6 | 6 | 4 | Drugs and targets |
1 to 10 of 29
See all 29 drugsTargets25
The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.
| Target | Protein | Its drugs that act on it | Mechanisms | Highest stage of those drugs | Gene in Genes | Source |
|---|---|---|---|---|---|---|
| FKBP1A | Peptidyl-prolyl cis-trans isomerase FKBP1A | 2 | FK506-binding protein 1A inhibitor | Phase 2 | https://conductscience.org/library/genes/2280 | Drugs and targets |
| PIK3CD | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform | 2 | PI3-kinase p110-delta subunit inhibitor | Approval | https://conductscience.org/library/genes/5293 | Drugs and targets |
| RRM1 | Ribonucleoside-diphosphate reductase RR1 | 2 | Ribonucleoside-diphosphate reductase RR1 inhibitor | Phase 2 | https://conductscience.org/library/genes/6240 | Drugs and targets |
| RRM2 | Ribonucleoside-diphosphate reductase RR1 | 2 | Ribonucleoside-diphosphate reductase RR1 inhibitor | Phase 2 | https://conductscience.org/library/genes/6241 | Drugs and targets |
| RRM2B | Ribonucleoside-diphosphate reductase RR1 | 2 | Ribonucleoside-diphosphate reductase RR1 inhibitor | Phase 2 | https://conductscience.org/library/genes/50484 | Drugs and targets |
| ADA | Adenosine deaminase | 1 | Adenosine deaminase inhibitor | Phase 2 | https://conductscience.org/library/genes/100 | Drugs and targets |
| CD52 | CAMPATH-1 antigen | 1 | CAMPATH-1 antigen inhibitor | Phase 2 | https://conductscience.org/library/genes/1043 | Drugs and targets |
| CXCR4 | C-X-C chemokine receptor type 4 | 1 | C-X-C chemokine receptor type 4 antagonist | Approval | https://conductscience.org/library/genes/7852 | Drugs and targets |
| F9 | Coagulation factor IX | 1 | Coagulation factor IX exogenous gene | Approval | https://conductscience.org/library/genes/2158 | Drugs and targets |
| IMPDH1 | Inosine-5'-monophosphate dehydrogenase (IMPDH) | 1 | Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor | Phase 2 | https://conductscience.org/library/genes/3614 | Drugs and targets |
1 to 10 of 25
See all 25 targetsTrials30
Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs. 35 more are not shown, since the checks do not confirm them.
| Trial | Title | Phase | Participants | Results first posted | Conditions | Drugs | Linked by | Source |
|---|---|---|---|---|---|---|---|---|
| NCT00814320 | Gammagard Liquid and rHuPH20 in PID | Phase 3 | 89 | 2015-12-03 | Primary Immunodeficiency Diseases (PID) | HYALURONIDASE, HYALURONIDASE (HUMAN RECOMBINANT) | Open Targets' reading, confirmed by NLM's indexing of its papers | ClinicalTrials.gov |
| NCT02810444 | Study to Investigate Efficacy, Safety and Pharmacokinetics of BT595 in Subjects With PID | Phase 3 | 81 | 2023-07-12 | Primary Immunodeficiency Disease | HUMAN IMMUNOGLOBULIN G | Its record names the disease | ClinicalTrials.gov |
| NCT01175213 | Tolerability and Safety of Immune Globulin Subcutaneous Solution (IGSC) and rHuPH20 in PID | Phase 3 | 66 | 2016-05-26 | Primary Immunodeficiency Diseases (PID) | HYALURONIDASE, HYALURONIDASE (HUMAN RECOMBINANT) | Open Targets' reading, confirmed by NLM's indexing of its papers | ClinicalTrials.gov |
| NCT00322556 | Safety and Efficacy of Intravenous Immunoglobulin IgPro10 in Patients With Primary Immunodeficiencies (PID) | Phase 3 | 55 | 2012-10-26 | Agammaglobulinemia, IgG Deficiency, Common Variable Immunodeficiency | HUMAN IMMUNOGLOBULIN G | Its record names the disease | ClinicalTrials.gov |
| NCT01485796 | Tolerability and Safety of IGI, 10% With rHuPH20 in PIDD | Phase 2/3 | 54 | 2017-04-24 | Primary Immunodeficiency Diseases (PID) | HYALURONIDASE (HUMAN RECOMBINANT) | Open Targets' reading of its record | ClinicalTrials.gov |
| NCT00278954 | Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases. | Phase 3 | 50 | 2010-01-28 | Primary Immunodeficiency, Common Variable Hypogammaglobulinemia, X-linked Hypogammaglobulinemia, Hypogammaglobulinemia, Immunodeficiency With Hyper-IgM, Wiskott-Aldrich Syndrome | HUMAN IMMUNOGLOBULIN G | Its record names the disease | ClinicalTrials.gov |
| NCT00419341 | Study of Subcutaneous Immunoglobulin in Patients With PID Requiring IgG Replacement Therapy | Phase 3 | 49 | 2013-01-25 | Primary Immune Deficiency | HUMAN IMMUNOGLOBULIN G | Its record names the disease | ClinicalTrials.gov |
| NCT03033745 | Safety and Tolerability of Higher Infusion Parameters of IgPro20 (Hizentra) in Subjects With Primary Immunodeficiency (PID) | Phase 4 | 49 | 2020-01-13 | Primary Immunodeficiency | HUMAN IMMUNOGLOBULIN G | Its record names the disease | ClinicalTrials.gov |
| NCT01963143 | Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases | Phase 3 | 48 | 2017-03-29 | Primary Immune Deficiency Disorders, Common Variable Immunodeficiency, X-linked Agammaglobulinaemia, Hyper-IgM Syndrome | HUMAN IMMUNOGLOBULIN G | Open Targets' reading, confirmed by NLM's indexing of its papers | ClinicalTrials.gov |
| NCT03277313 | Efficacy, Safety, Tolerability, Immunogenicity and Pharmacokinetic Evaluation of HYQVIA in Pediatric PIDD Subjects | Phase 3 | 44 | 2023-10-23 | Primary Immunodeficiency Diseases (PID) | HUMAN IMMUNOGLOBULIN G | Its record names the disease | ClinicalTrials.gov |
1 to 10 of 30
See all 30 trialsComparisons in its trials27
Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.
| Comparison | Group 1, with the outcome | Group 2, with the outcome | Participants | Trial | Source |
|---|---|---|---|---|---|
| IV Administration of IGIV, 10% vs SC Administration of IGIV, 10%, With rHuPH20 (With Ramp-up): serious adverse events | 3 of 87 | 12 of 83 | 170 | NCT00814320 | Trial comparisons |
| IGSC, 10% - rHuPH20 vs Safety Follow-up - IGSC, 10% or IGIV, 10% Only: serious adverse events | 9 of 63 | 3 of 51 | 114 | NCT01175213 | Trial comparisons |
| Epoch 1 vs Epoch 2: Number of Participants With All Temporally Associated TEAEs Excluding Infections | 27 of 44 | 35 of 43 | 87 | NCT03277313 | Trial comparisons |
| Epoch 1 vs Epoch 2: Number of Participants With All Related (Causally) and/or Temporally Associated TEAEs Excluding Infections | 27 of 44 | 35 of 43 | 87 | NCT03277313 | Trial comparisons |
| Epoch 1 vs Epoch 2: deaths from any cause | 0 of 44 | 0 of 43 | 87 | NCT03277313 | Trial comparisons |
| Epoch 1 vs Epoch 2: serious adverse events | 1 of 44 | 3 of 43 | 87 | NCT03277313 | Trial comparisons |
| Gammaplex 5% - All Subjects vs Gammaplex 10% - All Subjects: deaths from any cause | 0 of 33 | 0 of 47 | 80 | NCT01963143 | Trial comparisons |
| Gammaplex 5% - All Subjects vs Gammaplex 10% - All Subjects: serious adverse events | 2 of 33 | 1 of 47 | 80 | NCT01963143 | Trial comparisons |
| Epochs 1+2 (SC Treatment w/ IGI,10% and rHuPH20, n=37) vs Safety Follow-up (n=26): serious adverse events | 0 of 37 | 1 of 26 | 63 | NCT01485796 | Trial comparisons |
| HyQvia New Starters vs HyQvia Pre-treated: Safety: Number of Participants With Local TEAEs (Excluding Infections) | 11 of 23 | 3 of 19 | 42 | NCT03116347 | Trial comparisons |
1 to 10 of 27
See all 27 comparisons in its trialsPapers from its trials27
The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.
Data dates
The date of each source this release read.
Sources 6
- ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
- ChEMBL, through Open TargetsCC BY-SA 3.0
- ClinicalTrials.govNo license stated
- NLM's MeSHNLM's terms
- Open TargetsCC0 1.0
- PubMedNLM's terms
Each source's terms
- ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
- ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- ClinicalTrials.govnone stated
- NLM's MeSHNLM's
- Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- PubMedNLM's terms
ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
For software
Read this disease from software.
The record and each of its lists are JSON, twenty rows a page. No key.
GET https://conductscience.org/api/diseases/v1/MONDO_0003778
GET https://conductscience.org/api/diseases/v1/MONDO_0003778/drugs?page=2