Disease · MONDO_0015974

severe combined immunodeficiency

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. severe combined immunodeficiency. Diseases, record MONDO_0015974. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0015974

On this page

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.

Name: severe combined immunodeficiency; Open Targets
Open Targets ID: MONDO_0015974; Open Targets
Other names: Immunodeficiency, severe combined, SCID, severe combined immunodeficiency (disease); Open Targets
Disease Ontology: DOID:627; Disease Ontology
MeSH: D016511; MeSH
NCI Thesaurus: C3472; NCI Thesaurus
Orphanet: ORPHA:183660; Orphanet
Highest stage of its drugs: Approval, for 2 of its 21 drugs, from EMA Human Drugs and FDA; Open Targets

Drugs21

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
AUTOLOGOUS CD34+ ENRICHED CELL FRACTION THAT CONTAINS CD34+ CELLS TRANSDUCED WITH RETROVIRAL VECTOR THAT ENCODES FOR THE HUMAN ADA CDNA SEQUENCE	CHEMBL5315093		Approval	EMA Human Drugs	2	1	1	Drugs and targets
ELAPEGADEMASE	CHEMBL3990026	Enzyme	Approval	FDA	1	0	0	Drugs and targets
SIMOLADAGENE AUTOTEMCEL	CHEMBL4298201	Gene	Phase 3	TTD	2	1	1	Drugs and targets
BUSULFAN	CHEMBL820	Small molecule	Phase 2	ClinicalTrials.gov	10	10	10	Drugs and targets
FILGRASTIM	CHEMBL1201567	Protein	Phase 2	ClinicalTrials.gov	3	3	3	Drugs and targets
ALEMTUZUMAB	CHEMBL1201587	Antibody	Phase 2	ClinicalTrials.gov	2	2	2	Drugs and targets
ADENOSINE	CHEMBL477	Small molecule	Phase 2	ClinicalTrials.gov	1	1	0	Drugs and targets
PLERIXAFOR	CHEMBL18442	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
ANTILYMPHOCYTE IMMUNOGLOBULIN (HORSE)	CHEMBL2108981		Phase 1/2	ClinicalTrials.gov	3	3	0	Drugs and targets
FLUDARABINE	CHEMBL1568	Small molecule	Phase 1/2	ClinicalTrials.gov	2	2	2	Drugs and targets

1 to 10 of 21

See all 21 drugs

Targets16

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
NR3C1	Glucocorticoid receptor	2	Glucocorticoid receptor agonist	Unknown	https://conductscience.org/library/genes/2908	Drugs and targets
ADA	ADA	1	ADA exogenous gene	Approval	https://conductscience.org/library/genes/100	Drugs and targets
ADORA1	Adenosine receptor	1	Adenosine receptor agonist	Phase 2	https://conductscience.org/library/genes/134	Drugs and targets
ADORA2A	Adenosine receptor	1	Adenosine receptor agonist	Phase 2	https://conductscience.org/library/genes/135	Drugs and targets
ADORA2B	Adenosine receptor	1	Adenosine receptor agonist	Phase 2	https://conductscience.org/library/genes/136	Drugs and targets
ADORA3	Adenosine receptor	1	Adenosine receptor agonist	Phase 2	https://conductscience.org/library/genes/140	Drugs and targets
CD52	CAMPATH-1 antigen	1	CAMPATH-1 antigen inhibitor	Phase 2	https://conductscience.org/library/genes/1043	Drugs and targets
CSF3R	Granulocyte colony-stimulating factor receptor	1	Granulocyte colony stimulating factor receptor agonist	Phase 2	https://conductscience.org/library/genes/1441	Drugs and targets
CXCR4	C-X-C chemokine receptor type 4	1	C-X-C chemokine receptor type 4 partial agonist	Phase 2	https://conductscience.org/library/genes/7852	Drugs and targets
DHFR	Dihydrofolate reductase	1	Dihydrofolate reductase inhibitor	Unknown	https://conductscience.org/library/genes/1719	Drugs and targets

1 to 10 of 16

See all 16 targets

Trials16

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. 1 more is not shown, since the checks do not confirm it.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT01852071	Autologous CD34+ Hematopoietic Stem Cells Transduced ex Vivo With Elongation Factor 1 Alpha Shortened (EFS) Lentiviral Vector Encoding for the Human ADA Gene	Phase 1/2	46	2021-09-20	ADA-SCID	BUSULFAN	Its record names the disease	ClinicalTrials.gov
NCT00598481	ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID	Phase 2	12	2020-07-31	Immunologic Deficiency Syndromes	BUSULFAN	Its record names the disease	ClinicalTrials.gov
NCT00794508	MND-ADA Transduction of CD34+ Cells From Children With ADA-SCID	Phase 2	10	2016-05-30	Severe Combined Immunodeficiency	BUSULFAN	Its record names the disease	ClinicalTrials.gov
NCT01182675	Hematopoietic Stem Cell Transplantation (HSCT) for Children With SCID Utilizing Alemtuzumab, Plerixafor & Filgrastim	Phase 2	7	2014-11-10	Severe Combined Immunodeficiency	ALEMTUZUMAB, FILGRASTIM, PLERIXAFOR	Its record names the disease	ClinicalTrials.gov
NCT00579137	Allogeneic SCT Of Pts With SCID And Other Primary Immunodeficiency Disorders	Phase 1/2	3	2013-07-02	Severe Combined Immunodeficiency Disease, Severe Primary Immunodeficiency Disorder, Undefined T Cell Deficiency Disorder, Wiskott-Aldrick Syndrome	ALEMTUZUMAB, FLUDARABINE	Its record names the disease	ClinicalTrials.gov
NCT03619551	Conditioning SCID Infants Diagnosed Early	Phase 2	56		SCID	BUSULFAN	Its record names the disease	ClinicalTrials.gov
NCT00290628	Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer	Not applicable	43		Chronic Myeloproliferative Disorders, Diamond-blackfan Anemia, Fanconi Anemia, Graft Versus Host Disease, Leukemia, Lymphoma, Multiple Myeloma and Plasma Cell Neoplasm, Myelodysplastic Syndromes, Myelodysplastic/Myeloproliferative Diseases	BUSULFAN, CYCLOPHOSPHAMIDE, CYCLOSPORINE, FILGRASTIM, MELPHALAN, METHYLPREDNISOLONE, MYCOPHENOLATE MOFETIL	Its record names the disease	ClinicalTrials.gov
NCT03538899	Autologous Gene Therapy for Artemis-Deficient SCID	Phase 1/2	24		Severe Combined Immunodeficiency	BUSULFAN	Its record names the disease	ClinicalTrials.gov
NCT06851767	Base-Edited Hematopoietic Stem/Progenitor Cell X-Linked Severe Combined Immunodeficiency Gene Therapy	Phase 1/2	18		X-linked Severe Combined Immunodeficiency, X-SCID, XSCID	BUSULFAN, FILGRASTIM, PALIFERMIN	Its record names the disease	ClinicalTrials.gov
NCT03232203	Evaluating the Effectiveness of STRIMVELIS Risk Minimization Measures (RMMs)		16		Severe Combined Immunodeficiency Due to ADA Deficiency	AUTOLOGOUS CD34+ ENRICHED CELL FRACTION THAT CONTAINS CD34+ CELLS TRANSDUCED WITH RETROVIRAL VECTOR THAT ENCODES FOR THE HUMAN ADA CDNA SEQUENCE	Its record names the disease	ClinicalTrials.gov

1 to 10 of 16

See all 16 trials

Comparisons in its trials0

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.

None in this release.

Papers from its trials12

The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.

PMID	Listed as	Trials listing it	Source
38355973	DERIVED	1	PubMed
35914227	DERIVED	1	PubMed
33974366	DERIVED	1	PubMed
33974038	DERIVED	1	PubMed
28346229	DERIVED	1	PubMed
28319446	DERIVED	1	PubMed
27129325	DERIVED	1	PubMed
22184407	DERIVED	1	PubMed
19652199	DERIVED	1	PubMed
19633200	DERIVED	1	PubMed

1 to 10 of 12

See all 12 papers from its trials

Data dates

The date of each source this release read.

Open Targets: 2026-09-18; Open Targets
Drug links and their checks, from Drugs and targets: 2026-09-18; Drugs and targets
ClinicalTrials.gov, from Trials: 2026-11-12; Trials
Comparisons, from Trial comparisons: 2026-03-23; Trial comparisons
PubMed, for the checks: 2026-11-06; PubMed
MeSH, for the checks: 2026-11-10; MeSH

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_0015974

GET https://conductscience.org/api/diseases/v1/MONDO_0015974/drugs?page=2

API reference For AI assistants