Disease · MONDO_0009194

immunodeficiency 32B

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. immunodeficiency 32B. Diseases, record MONDO_0009194. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0009194

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: immunodeficiency 32B; Open Targets
Open Targets ID: MONDO_0009194; Open Targets
Other names: CAEBV syndrome, IMD32B, IRF8 deficiency, autosomal recessive, chronic EBV infection syndrome, chronic Epstein-Barr virus infection syndrome, immunodeficiency 32B, monocyte, Dendritic cell, and natural Killer cell deficiency, autosomal recessive, monocyte and dendritic cell deficiency, autosomal recessive; Open Targets
Disease Ontology: DOID:0111985; Disease Ontology
Orphanet: ORPHA:2566; Orphanet
Highest stage of its drugs: Phase 3, for 3 of its 6 drugs, from ClinicalTrials.gov; Open Targets

Drugs6

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
DEXAMETHASONE	CHEMBL384467	Small molecule	Phase 3	ClinicalTrials.gov	1	1	1	Drugs and targets
LENALIDOMIDE	CHEMBL848	Small molecule	Phase 3	ClinicalTrials.gov	1	1	1	Drugs and targets
RITUXIMAB	CHEMBL1201576	Antibody	Phase 3	ClinicalTrials.gov	1	1	1	Drugs and targets
CYCLOPHOSPHAMIDE	CHEMBL1200796	Small molecule	Phase 1	ClinicalTrials.gov	2	2	2	Drugs and targets
FLUDARABINE	CHEMBL1568	Small molecule	Phase 1	ClinicalTrials.gov	2	2	2	Drugs and targets
TORIPALIMAB	CHEMBL4297843	Antibody	Early phase 1	ClinicalTrials.gov	1	1	1	Drugs and targets

Targets7

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
CRBN	CRL4(CRBN) E3 ubiquitin ligase	1	CRL4(CRBN) E3 ubiquitin ligase inhibitor; CRL4(CRBN) E3 ubiquitin ligase modulator	Phase 3	https://conductscience.org/library/genes/51185	Drugs and targets
CUL4A	CRL4(CRBN) E3 ubiquitin ligase	1	CRL4(CRBN) E3 ubiquitin ligase inhibitor; CRL4(CRBN) E3 ubiquitin ligase modulator	Phase 3	https://conductscience.org/library/genes/8451	Drugs and targets
DDB1	CRL4(CRBN) E3 ubiquitin ligase	1	CRL4(CRBN) E3 ubiquitin ligase inhibitor; CRL4(CRBN) E3 ubiquitin ligase modulator	Phase 3	https://conductscience.org/library/genes/1642	Drugs and targets
MS4A1	B-lymphocyte antigen CD20	1	B-lymphocyte antigen CD20 binding agent	Phase 3	https://conductscience.org/library/genes/931	Drugs and targets
NR3C1	Glucocorticoid receptor	1	Glucocorticoid receptor agonist	Phase 3	https://conductscience.org/library/genes/2908	Drugs and targets
PDCD1	Programmed cell death protein 1	1	Programmed cell death protein 1 antagonist	Early phase 1	https://conductscience.org/library/genes/5133	Drugs and targets
RBX1	CRL4(CRBN) E3 ubiquitin ligase	1	CRL4(CRBN) E3 ubiquitin ligase inhibitor; CRL4(CRBN) E3 ubiquitin ligase modulator	Phase 3	https://conductscience.org/library/genes/9978	Drugs and targets

Trials6

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.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT02287311	Most Closely Matched 3rd Party Rapidly Generated LMP, BARF1 And EBNA1 Specific CTL, EBV-Positive Lymphoma (MABEL)	Phase 1	38	2025-02-24	Hodgkin Disease, Non-Hodgkin Lymphoma, Severe Chronic Active Epstein Barr Virus, T/NK-lymphoproliferative Disease, Nasopharyngeal Carcinoma, Smooth Muscle Tumor	CYCLOPHOSPHAMIDE, FLUDARABINE	Open Targets' reading of its record	ClinicalTrials.gov
NCT01555892	Cytotoxic T-Lymphocytes for EBV-positive Lymphoma, GRALE	Phase 1	136		Hodgkin's Disease, Non-Hodgkin's Lymphoma, Lymphoproliferative Disease, Lymphoma	CYCLOPHOSPHAMIDE, FLUDARABINE	Open Targets' reading of its record	ClinicalTrials.gov
NCT04084626	PD1 Antibody and Lenalidomide as a Treatment for EBV-HLH or CAEBV	Phase 3	40		EBV Infection	LENALIDOMIDE	Open Targets' reading of its record	ClinicalTrials.gov
NCT05384743	Rituximab Monotherapy for EBV-HLH and CAEBV	Phase 3	30		Secondary Hemophagocytic Lymphohistiocytosis, Chronic Active Epstein-Barr Virus Infection	RITUXIMAB	Open Targets' reading of its record	ClinicalTrials.gov
NCT04690036	PD-1 Antibody for Reactive EBV After BMT	Early phase 1	20		PD-1, EBV Infection, Transplant	TORIPALIMAB	Open Targets' reading of its record	ClinicalTrials.gov
NCT05347381	Selinexol Combined With Dexamethasone in the Treatment of CAEBV	Phase 3	6		CAEBV	DEXAMETHASONE	Open Targets' reading of its record	ClinicalTrials.gov

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 trials2

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
39908567	DERIVED	1	PubMed
38640255	DERIVED	1	PubMed

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_0009194

GET https://conductscience.org/api/diseases/v1/MONDO_0009194/drugs

API reference For AI assistants