CD81

Summary

CD81 (CD81 molecule, HGNC:1701) is a protein-coding gene on chromosome 11p15.5, encoding CD81 antigen (P60033). Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling.

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This protein appears to promote muscle cell fusion and support myotube maintenance. Also it may be involved in signal transduction. This gene is localized in the tumor-suppressor gene region and thus it is a candidate gene for malignancies. Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 975 — RefSeq curated summary.

At a glance

• Gene–disease (curated): common variable immunodeficiency (Supportive, GenCC) — +1 more curated relationship
• GWAS associations: 3
• Clinical variants (ClinVar): 325 total
• Phenotypes (HPO): 19
• Druggable target: yes
• MANE Select transcript: NM_004356

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1701
Approved symbol	CD81
Name	CD81 molecule
Location	11p15.5
Locus type	gene with protein product
Status	Approved
Aliases	TAPA-1, TSPAN28, S5.7
Ensembl gene	ENSG00000110651
Ensembl biotype	protein_coding
OMIM	186845
Entrez	975

Gene structure

Transcript identifiers

Ensembl transcripts: 28 — 23 protein_coding, 4 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000263645, ENST00000381036, ENST00000464784, ENST00000468153, ENST00000475945, ENST00000481386, ENST00000481687, ENST00000492252, ENST00000492627, ENST00000493525, ENST00000524805, ENST00000526072, ENST00000527343, ENST00000530239, ENST00000530648, ENST00000531840, ENST00000533417, ENST00000905044, ENST00000905045, ENST00000905046, ENST00000905047, ENST00000905048, ENST00000905049, ENST00000905050, ENST00000905051, ENST00000935698, ENST00000952132, ENST00000952133

RefSeq mRNA: 10 — MANE Select: NM_004356 NM_001297649, NM_001425129, NM_001425130, NM_001425131, NM_001425132, NM_001425134, NM_001425135, NM_001425137, NM_001425138, NM_004356

CCDS: CCDS73240, CCDS7734

Canonical transcript exons

ENST00000263645 — 8 exons

Exon	Start	End
ENSE00001227086	2377310	2377615
ENSE00001487300	2396804	2397397
ENSE00002178453	2395869	2395970
ENSE00003514938	2394972	2395046
ENSE00003560442	2394095	2394192
ENSE00003595296	2390412	2390526
ENSE00003790707	2395416	2395520
ENSE00003976562	2396628	2396714

Expression profiles

Bgee: expression breadth ubiquitous, 302 present calls, max score 99.84.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 462.2358 / max 3640.9614, expressed in 1818 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
112686	461.5977	1816
112688	0.2153	58
112683	0.1817	23
112682	0.0533	17
206161	0.0434	15
112685	0.0387	9
112689	0.0325	17
112692	0.0261	20
112684	0.0220	7
112690	0.0127	6

Top tissues by expression

303 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	99.84	gold quality
seminal vesicle	UBERON:0000998	99.79	gold quality
body of uterus	UBERON:0009853	99.77	gold quality
right coronary artery	UBERON:0001625	99.72	gold quality
endocervix	UBERON:0000458	99.71	gold quality
right uterine tube	UBERON:0001302	99.71	gold quality
descending thoracic aorta	UBERON:0002345	99.69	gold quality
left uterine tube	UBERON:0001303	99.67	gold quality
ascending aorta	UBERON:0001496	99.67	gold quality
thoracic aorta	UBERON:0001515	99.67	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	99.67	gold quality
myometrium	UBERON:0001296	99.66	gold quality
tibial nerve	UBERON:0001323	99.66	gold quality
left coronary artery	UBERON:0001626	99.66	gold quality
apex of heart	UBERON:0002098	99.66	gold quality
right lung	UBERON:0002167	99.66	gold quality
upper lobe of left lung	UBERON:0008952	99.66	gold quality
lower esophagus	UBERON:0013473	99.66	gold quality
lower esophagus muscularis layer	UBERON:0035833	99.66	gold quality
peripheral nervous system	UBERON:0000010	99.65	gold quality
nerve	UBERON:0001021	99.65	gold quality
coronary artery	UBERON:0001621	99.65	gold quality
muscle layer of sigmoid colon	UBERON:0035805	99.65	gold quality
upper lobe of lung	UBERON:0008948	99.64	gold quality
omental fat pad	UBERON:0010414	99.64	gold quality
metanephros cortex	UBERON:0010533	99.64	gold quality
gall bladder	UBERON:0002110	99.63	gold quality
peritoneum	UBERON:0002358	99.63	gold quality
mucosa of stomach	UBERON:0001199	99.62	gold quality
right atrium auricular region	UBERON:0006631	99.62	gold quality

Single-cell (SCXA)

Detected in 15 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-GEOD-124263	yes	2156.70
E-MTAB-10287	yes	1959.68
E-HCAD-13	yes	548.26
E-CURD-122	yes	70.83
E-GEOD-137537	yes	37.92
E-HCAD-1	yes	18.61
E-MTAB-9067	yes	13.70
E-MTAB-10553	yes	5.82
E-HCAD-25	yes	4.69
E-MTAB-10018	no	1043.65
E-ENAD-20	no	746.02
E-CURD-79	no	502.43
E-GEOD-99795	no	198.14
E-MTAB-7052	no	196.24
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
HAMP	Activation

Upstream regulators (CollecTRI, top): HHEX, PITX2

miRNA regulators (miRDB)

49 targeting CD81, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481
HSA-MIR-548J-5P	99.94	71.14	3489
HSA-MIR-548O-5P	99.94	71.24	3488
HSA-MIR-548W	99.94	71.24	3488
HSA-MIR-548Y	99.94	71.28	3514
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-4493	99.90	66.48	977
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-548AG	99.77	69.25	1492

Literature-anchored findings (GeneRIF, showing 40)

• CD81 regulates neuron-induced astrocyte proliferation via a contact-dependent mechanism. (PMID:11273649)
• C-kit is physically associated with transmembrane 4 superfamily proteins CD9, CD63, and CD81, that may negatively modulate c-kit and thus regulate c-kit receptor sensitivity to SLF in hematopoietic progenitors. (PMID:12036870)
• Variation of hepatitis C virus load, hypervariable region 1 quasispecies and CD81 hepatocyte expression in hepatocellular carcinoma and adjacent non-cancerous liver. (PMID:12210407)
• E2-binding site on CD81 comprises residues Ile(182), Phe(186), Asn(184), and Leu(162) (PMID:12368358)
• Release and intercellular trafficking of CD81-positive microparticles regulate the expression of CD81 surface receptors in lymphocytes and play a role in the immune response during infections. (PMID:12421929)
• CD81 colocalizes at the central zone of the supramolecular activation complex in both T lymphocytes and antigen presenting cells, suggesting a role for CD81 during antigen presentation. (PMID:12471100)
• Data show that CD81, a putative receptor for hepatitis C virus, is required on hepatocytes for human Plasmodium falciparum and rodent Plasmodium yoelii sporozoite infectivity. (PMID:12483205)
• two peptides from human CD81 (hCD81) large extra-cellular loop (LEL) with known importance in the hepatitis C virus glycoprotein E2 (HCV-E2) binding interaction was characterized using circular dichroism spectroscopy (PMID:12492902)
• While CD81 specifically binds to HCV-E2 protein, the entry of HCV into human hepatocytes might be regulated by CD81-unrelated molecule(s). (PMID:12519228)
• Signalling through CD81 on T cells costimulates both Th1 and Th2 cells, but increases the number of Th2 cells during long-term activation. (PMID:12597781)
• The costimulatory effects of HCV E2 on T cells depend on CD81 cross-linking that activates Lck through raft aggregation and thus leads to enhanced TCR signaling. (PMID:12645944)
• Expression of the CD81 tetraspanin in non-permissive CD81-negative hepato-carcinoma cells was sufficient to restore susceptibility to HCVpp infection, confirming its critical role as a cell attachment factor. (PMID:12913001)
• Coligation of the B cell antigen receptor with the complement (C3)-binding CD21/CD19/CD81 costimulatory complex can enhance the escape of human B cells from Fas-induced death. (PMID:14607925)
• CD81 is linked to ERK/MAPkinase signaling by Shc in liver tumor cells. (PMID:14676841)
• CD81 stimulates synthesis of phosphoinositides with the recruitment of Shc to the plasma membrane via PTB domain, and this sequence of events induces activation of ERK/MAPKinase. (PMID:14676841)
• data suggest a functional role for CD81 as a coreceptor for Hepatitis C virus glycoprotein-dependent viral cell entry (PMID:14722300)
• Phage display selection on murine fibroblasts yielded a small peptide specific for HCV receptor human CD81. (PMID:14728804)
• CD81 signaling events could be mediated by 14-3-3 adapter proteins, and these signals may be dependent on cellular redox (PMID:14966136)
• CD81 functions as a post-attachment entry coreceptor and that other cellular factors act in concert with CD81 to mediate hepatitic C virus binding and entry into hepatocytes (PMID:15123813)
• CD81, together with additional unknown liver specific receptor(s), mediate the hepacivirus-cell entry process. (PMID:15280458)
• CD81 expression and HCV core antigen levels in PBMCs are increased in patients with mixed cryoglobulinemia (PMID:15294858)
• binding with HCV E2 induces RANTES secretion and internalization of CCR5. (PMID:15500552)
• These results suggest that the LEL has a more robust structure in the intact tetraspanin with regions outside the LEL contributing to CD81 dimerization. (PMID:15670777)
• These findings suggest that engagement of CD81 decreases the signaling threshold required to initiate TCR/CD3-mediated induction of integrated HIV-1 proviral DNA in primary CD4+ T cells. (PMID:15767432)
• interactions with hepatitis C virus e2 protein may modulate host’s innate or adaptive immune response. (PMID:15956553)
• CD81-mediated activation of B cells in vitro recapitulates the effects of hepatitis C virus binding to B cell CD81 in vivo (PMID:16339892)
• in CD81, numerous membrane-exposed aromatic residues are asymmetrically clustered and protrude on one side of the transmembrane domain (PMID:16352525)
• CD81-mediated hepatitis C virus (HCV)pseudoparticle entry entails HCV E2 protein binding to residues in the large extracellular loop as well as molecular events mediated by the transmembrane and intracellular domains of CD81. (PMID:16641285)
• Lymphocyte subsets show different patterns of CD81 response before and during antiviral treatment, which are associated with administration of IFN-alpha and antiviral response (PMID:16735696)
• Specific amino acids conserved in E2 across all genotypes that were critical for CD81 binding were W420, Y527, W529, G530, and D535. These data significantly increase our understanding of the CD81 receptor-E2 binding process. (PMID:16912317)
• role of CD81 and CD9 on the cell-to-cell fusion process mediated by HIV-1, syncytia formation induced by HIV-1 envelope proteins and viral entry in human T lymphoblasts (PMID:17015697)
• These data indicate that a high density of cell surface-exposed CD81 is a key determinant for productive HCV entry into host cells. (PMID:17079281)
• These findings support an immunogenic model of hepatitis C virus E2 having three immunogenic domains with distinct structures and functions and provide added support for the idea that CD81 is required for Hepacivirus entry. (PMID:17079294)
• Association of HTLV-1 Gag protein with tetraspanin-enriched microdomains is mediated by the inner loops of CD81 and CD82. (PMID:17166843)
• CD81 down-regulation on B cells is associated with the response to interferon-alpha-based treatment for chronic hepatitis. (PMID:17194487)
• CD81 expression is an important determinant of hepatitis C virus permissiveness of Huh7 cell clones harboring different characteristics (PMID:17329343)
• transferrin receptor and CD9, CD81, and CD9P-1 are differentially sorted into exosomes after TPA treatment of K562 cells (PMID:17407154)
• these data suggested that both HSPG and CD81 are important for HCV entry. (PMID:17457918)
• Results suggest that hepatitis C virus envelope glycoprotein E2 glycans modulate entry, CD81 binding, and neutralization by masking functionally important regions of E2 . (PMID:17507469)
• Data show that HIV-1 envelope glycoprotein (Env) and core protein (Gag) colocalize strongly with CD63 and CD81 and less strongly with CD9, and suggest that HIV-1 promotes virus assembly and cell-cell transfer by targeting these plasma membrane proteins. (PMID:17522207)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	cd81b	ENSDARG00000022437
danio_rerio	cd81a	ENSDARG00000036080
mus_musculus	Cd81	ENSMUSG00000037706
rattus_norvegicus	Cd81	ENSRNOG00000020451
caenorhabditis_elegans		WBGENE00006635

Paralogs (32): TSPAN6 (ENSG00000000003), CD9 (ENSG00000010278), TSPAN9 (ENSG00000011105), TSPAN17 (ENSG00000048140), TSPAN32 (ENSG00000064201), CD82 (ENSG00000085117), TSPAN15 (ENSG00000099282), CD37 (ENSG00000104894), UPK1A (ENSG00000105668), TSPAN12 (ENSG00000106025), TSPAN13 (ENSG00000106537), TSPAN14 (ENSG00000108219), TSPAN11 (ENSG00000110900), PRPH2 (ENSG00000112619), UPK1B (ENSG00000114638), TSPAN1 (ENSG00000117472), TSPAN8 (ENSG00000127324), TSPAN16 (ENSG00000130167), TSPAN2 (ENSG00000134198), CD63 (ENSG00000135404), TSPAN31 (ENSG00000135452), TSPAN3 (ENSG00000140391), CD53 (ENSG00000143119), ROM1 (ENSG00000149489), TSPAN7 (ENSG00000156298), TSPAN18 (ENSG00000157570), TSPAN33 (ENSG00000158457), TSPAN5 (ENSG00000168785), CD151 (ENSG00000177697), TSPAN10 (ENSG00000182612), TSPAN4 (ENSG00000214063), TSPAN19 (ENSG00000231738)

Protein

Protein identifiers

CD81 antigen — P60033 (reviewed: P60033)

Alternative names: 26 kDa cell surface protein TAPA-1, Target of the antiproliferative antibody 1, Tetraspanin-28

All UniProt accessions (10): P60033, A6NMH8, E9PIF1, E9PJK1, E9PPF5, E9PQV4, E9PRJ8, H0YDJ9, H0YDL9, H0YEE2

UniProt curated annotations — full annotation on UniProt →

Function. Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling. Essential for trafficking and compartmentalization of CD19 receptor on the surface of activated B cells. Upon initial encounter with microbial pathogens, enables the assembly of CD19-CR2/CD21 and B cell receptor (BCR) complexes at signaling TERMs, lowering the threshold dose of antigen required to trigger B cell clonal expansion and antibody production. In T cells, facilitates the localization of CD247/CD3 zeta at antigen-induced synapses with B cells, providing for costimulation and polarization toward T helper type 2 phenotype. Present in MHC class II compartments, may also play a role in antigen presentation. Can act both as positive and negative regulator of homotypic or heterotypic cell-cell fusion processes. Positively regulates sperm-egg fusion and may be involved in acrosome reaction. In myoblasts, associates with CD9 and PTGFRN and inhibits myotube fusion during muscle regeneration. In macrophages, associates with CD9 and beta-1 and beta-2 integrins, and prevents macrophage fusion into multinucleated giant cells specialized in ingesting complement-opsonized large particles. Also prevents the fusion of mononuclear cell progenitors into osteoclasts in charge of bone resorption. May regulate the compartmentalization of enzymatic activities. In T cells, defines the subcellular localization of dNTPase SAMHD1 and permits its degradation by the proteasome, thereby controlling intracellular dNTP levels. Also involved in cell adhesion and motility. Positively regulates integrin-mediated adhesion of macrophages, particularly relevant for the inflammatory response in the lung. (Microbial infection) Acts as a receptor for hepatitis C virus (HCV) in hepatocytes. Association with CLDN1 and the CLDN1-CD81 receptor complex is essential for HCV entry into host cell. (Microbial infection) Involved in SAMHD1-dependent restriction of HIV-1 replication. May support early replication of both R5- and X4-tropic HIV-1 viruses in T cells, likely via proteasome-dependent degradation of SAMHD1. (Microbial infection) Specifically required for Plasmodium falciparum infectivity of hepatocytes, controlling sporozoite entry into hepatocytes via the parasitophorous vacuole and subsequent parasite differentiation to exoerythrocytic forms.

Subunit / interactions. Homodimer. Part of a complex composed of CD19, CR2/CD21, CD81 and IFITM1/CD225 in the membrane of mature B cells. Interacts (via the second extracellular domain) with CD19; this interaction is initiated early during biosynthesis in the ER and enables trafficking of only properly folded CD19. Part of a complex that includes MHC class II/HLA-DR molecules and IFITM1. Interacts with IFITM1. Interacts with IFITM2 and IFITM3. Part of integrin-tetraspanin complex composed of CD9, CD81, beta-1 and beta-2 integrins in the membrane of monocyte/macrophages. Interacts (via the second extracellular domain) with integrin ITGAV:ITGB3. Interacts with CD247/CD3 zeta, ICAM1 and CD9 at the immune synapse on T cell membrane. Part of a GPCR-tetraspanin complex consisting at least of ADGRG1, CD81, possibly CD9, and GNA11 in which CD81 enhances the association of ADGRG1 with GNA11. Part of a complex composed of CD9, CD81, PTGFRN and IGSF8. Interacts directly with IGSF8. Interacts with CD53 and SCIMP. Interacts with SAMHD1 (via its C-terminus). Interacts with glypican GPC3 and with the transcriptional repressor HHEX; binding to GPC3 decreases the availability of free CD81 for binding to HHEX, resulting in nuclear translocation of HHEX and transcriptional repression. Interacts with CLDN1. Interacts with CLDN6 and CLDN9. (Microbial infection) Plays a critical role in HCV attachment and/or cell entry by interacting with HCV E1/E2 glycoproteins heterodimer.

Subcellular location. Cell membrane. Basolateral cell membrane.

Tissue specificity. Expressed on B cells (at protein level). Expressed in hepatocytes (at protein level). Expressed in monocytes/macrophages (at protein level). Expressed on both naive and memory CD4-positive T cells (at protein level).

Post-translational modifications. Not glycosylated. Likely constitutively palmitoylated at low levels. Protein palmitoylation is up-regulated upon coligation of BCR and CD9-C2R-CD81 complexes in lipid rafts.

Disease relevance. Immunodeficiency, common variable, 6 (CVID6) [MIM:613496] A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. Binds cholesterol in a cavity lined by the transmembrane spans.

Similarity. Belongs to the tetraspanin (TM4SF) family.

RefSeq proteins (10): NP_001284578, NP_001412058, NP_001412059, NP_001412060, NP_001412061, NP_001412063, NP_001412064, NP_001412066, NP_001412067, NP_004347* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000301	Tetraspanin_animals	Family
IPR008952	Tetraspanin_EC2_sf	Homologous_superfamily
IPR018499	Tetraspanin/Peripherin	Family
IPR018503	Tetraspanin_CS	Conserved_site

Pfam: PF00335

UniProt features (43 total): mutagenesis site 14, helix 12, topological domain 5, transmembrane region 4, site 3, disulfide bond 2, chain 1, binding site 1, strand 1

Structure

Experimental structures (PDB)

16 structures.

PDB	Method	Resolution (Å)
5M33	X-RAY DIFFRACTION	1.28
1G8Q	X-RAY DIFFRACTION	1.6
3X0E	X-RAY DIFFRACTION	1.84
5M2C	X-RAY DIFFRACTION	1.96
5M3T	X-RAY DIFFRACTION	2.02
6EJM	X-RAY DIFFRACTION	2.15
5DFW	X-RAY DIFFRACTION	2.33
5M3D	X-RAY DIFFRACTION	2.38
6U9S	X-RAY DIFFRACTION	2.4
1IV5	X-RAY DIFFRACTION	2.6
6EK2	X-RAY DIFFRACTION	2.65
5DFV	X-RAY DIFFRACTION	2.8
6EJG	X-RAY DIFFRACTION	2.82
5TCX	X-RAY DIFFRACTION	2.96
5M4R	X-RAY DIFFRACTION	3.1
7JIC	ELECTRON MICROSCOPY	3.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P60033-F1	87.24	0.62

Antibody-complex structures (SAbDab): 6 — 5DFV, 5DFW, 6EJG, 6EJM, 6EK2, 6U9S

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (3): 116 (important for interaction with integrin); 144 (important for interaction with integrin); 148 (important for interaction with integrin)

Ligand- & substrate-binding residues (1): 219

Disulfide bonds (2): 156–190, 157–175

Mutagenesis-validated functional residues (14):

Position	Phenotype
116	reduces binding to integrin.
119	no effect on integrin binding.
121	no effect on integrin binding.
124	no effect on integrin binding.
126	no effect on integrin binding.
144	reduces binding to integrin; when associated with e-148.
148	reduces binding to integrin; when associated with e-144.
186	no effect on integrin binding.
187	no effect on integrin binding.
188	strongly reduced affinity for hcv protein e2; when associated with e-196.
188	mildly reduced affinity for hcv protein e2.
196	strongly reduced affinity for hcv protein e2; when associated with k-188 or q-188.
196	strongly reduced affinity for hcv protein e2.
219	reduced affinity for cholesterol binding.

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-198933	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
R-HSA-977606	Regulation of Complement cascade
R-HSA-1280218	Adaptive Immune System
R-HSA-166658	Complement cascade
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System

MSigDB gene sets: 619 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_CELLULAR_RESPONSE_TO_LIPOPROTEIN_PARTICLE_STIMULUS, GOBP_REGULATION_OF_T_CELL_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_B_CELL_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_REGULATION_OF_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_REGULATION_OF_INFLAMMATORY_RESPONSE_TO_ANTIGENIC_STIMULUS, GOBP_POSITIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOBP_SKELETAL_MUSCLE_TISSUE_REGENERATION, GOBP_REGULATION_OF_ALPHA_BETA_T_CELL_ACTIVATION, GOBP_MYELOID_LEUKOCYTE_MIGRATION, REACTOME_ADAPTIVE_IMMUNE_SYSTEM

GO Biological Process (31): immunological synapse formation (GO:0001771), humoral immune response mediated by circulating immunoglobulin (GO:0002455), positive regulation of inflammatory response to antigenic stimulus (GO:0002863), myoblast fusion involved in skeletal muscle regeneration (GO:0014905), positive regulation of B cell proliferation (GO:0030890), receptor internalization (GO:0031623), regulation of protein stability (GO:0031647), macrophage fusion (GO:0034238), CD4-positive, alpha-beta T cell costimulation (GO:0035783), positive regulation of MAPK cascade (GO:0043410), positive regulation of transcription by RNA polymerase II (GO:0045944), positive regulation of B cell receptor signaling pathway (GO:0050861), positive regulation of T cell receptor signaling pathway (GO:0050862), protein localization to lysosome (GO:0061462), positive regulation of protein exit from endoplasmic reticulum (GO:0070863), cellular response to low-density lipoprotein particle stimulus (GO:0071404), protein localization to plasma membrane (GO:0072659), osteoclast fusion (GO:0072675), positive regulation of receptor clustering (GO:1903911), positive regulation of protein catabolic process in the vacuole (GO:1904352), regulation of macrophage migration (GO:1905521), positive regulation of adaptive immune memory response (GO:1905676), positive regulation of T-helper 2 cell cytokine production (GO:2000553), positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563), positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190), adaptive immune response (GO:0002250), immune system process (GO:0002376), regulation of cell population proliferation (GO:0042127), symbiont entry into host cell (GO:0046718), positive regulation of B cell activation (GO:0050871), regulation of cell motility (GO:2000145)

GO Molecular Function (8): virus receptor activity (GO:0001618), integrin binding (GO:0005178), cholesterol binding (GO:0015485), MHC class II protein complex binding (GO:0023026), MHC class II protein binding (GO:0042289), transferrin receptor binding (GO:1990459), protein binding (GO:0005515), lipid binding (GO:0008289)

GO Cellular Component (10): immunological synapse (GO:0001772), cytosol (GO:0005829), plasma membrane (GO:0005886), focal adhesion (GO:0005925), basal plasma membrane (GO:0009925), membrane (GO:0016020), basolateral plasma membrane (GO:0016323), vesicle (GO:0031982), extracellular exosome (GO:0070062), tetraspanin-enriched microdomain (GO:0097197)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Immune System	2
Adaptive Immune System	1
Complement cascade	1
Innate Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
syncytium formation by cell-cell fusion	2
positive regulation of antigen receptor-mediated signaling pathway	2
signaling receptor binding	2
binding	2
plasma membrane	2
plasma membrane region	2
cell-cell recognition	1
lymphocyte activation	1
humoral immune response	1
immunoglobulin mediated immune response	1
inflammatory response to antigenic stimulus	1
regulation of inflammatory response to antigenic stimulus	1
positive regulation of inflammatory response	1
positive regulation of immune response	1
myoblast fusion	1
myotube differentiation involved in skeletal muscle regeneration	1
skeletal muscle tissue regeneration	1
regulation of B cell proliferation	1
B cell proliferation	1
positive regulation of lymphocyte proliferation	1
positive regulation of B cell activation	1
receptor-mediated endocytosis	1
regulation of biological quality	1
T cell costimulation	1
positive regulation of CD4-positive, alpha-beta T cell activation	1
MAPK cascade	1
regulation of MAPK cascade	1
positive regulation of intracellular signal transduction	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
B cell receptor signaling pathway	1
regulation of B cell receptor signaling pathway	1
T cell receptor signaling pathway	1
regulation of T cell receptor signaling pathway	1
protein localization to vacuole	1
protein exit from endoplasmic reticulum	1
regulation of protein exit from endoplasmic reticulum	1
positive regulation of intracellular protein transport	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

172 interactions, top by confidence:

A	B	Type	Score
	CD81	psi-mi:“MI:0915”(physical association)	0.840
TSPAN15	ADAM10	psi-mi:“MI:0914”(association)	0.840
	CD81	psi-mi:“MI:0407”(direct interaction)	0.840
CD81		psi-mi:“MI:0407”(direct interaction)	0.840
CD81		psi-mi:“MI:0915”(physical association)	0.840
TSPAN5	ADAM10	psi-mi:“MI:0914”(association)	0.800
CD81	PTGFRN	psi-mi:“MI:0914”(association)	0.790
CD9	ADAM10	psi-mi:“MI:0914”(association)	0.750
ADAM10	CD9	psi-mi:“MI:0914”(association)	0.750
CD81	ADAM10	psi-mi:“MI:0914”(association)	0.740
CD81	ADAM10	psi-mi:“MI:0915”(physical association)	0.740
CD81	EGFR	psi-mi:“MI:0914”(association)	0.600
CD81	STX1A	psi-mi:“MI:0915”(physical association)	0.560
CD81	TREX1	psi-mi:“MI:0915”(physical association)	0.560
CD81	SLC26A6	psi-mi:“MI:0915”(physical association)	0.560
CD81	LBR	psi-mi:“MI:0915”(physical association)	0.560
CD81	BST2	psi-mi:“MI:0915”(physical association)	0.560
CD81	PDZK1IP1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (344): CD81 (Two-hybrid), TFR2 (Affinity Capture-Western), CD81 (Affinity Capture-Western), CD81 (Affinity Capture-RNA), CD81 (Two-hybrid), CD81 (PCA), CD81 (Affinity Capture-MS), ALCAM (Affinity Capture-MS), ANXA11 (Affinity Capture-MS), APOA1 (Affinity Capture-MS), APOE (Affinity Capture-MS), ATP1A1 (Affinity Capture-MS), C2orf72 (Affinity Capture-MS), CAPN5 (Affinity Capture-MS), CD151 (Affinity Capture-MS)

ESM2 similar proteins: O43657, O46101, O60635, O70352, O70401, O97703, P08962, P19075, P19331, P19397, P24485, P27591, P27701, P28648, P35762, P40237, P41731, P41732, P60033, P60034, P62079, P62080, Q17QJ5, Q26499, Q28709, Q2KIS9, Q32KU6, Q3T0S3, Q3ZCD0, Q4R7W6, Q4V8E0, Q58DM3, Q58DN3, Q5R9S6, Q5RAS5, Q5RC27, Q61451, Q62283, Q62745, Q68VK5

Diamond homologs: A0A8M2B5N2, A0A8V0ZLT4, B0BM39, B3VSC2, B5X3I6, O14817, O60635, O75954, O97703, P11049, P60033, P60034, Q06AA5, Q11098, Q26499, Q3T0S3, Q4R7W6, Q4V8E0, Q58CY8, Q5RAP3, Q5RC27, Q61470, Q6AYR9, Q6DCQ3, Q6GMK6, Q80WR1, Q8BJU2, Q922J6, Q96SJ8, Q99J59, Q9DCK3, A1L157, O35566, O60636, O70352, P19075, P24485, P27701, P40241, P48509

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 99 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
ER-Phagosome pathway	6	11.4×	2e-03
Class A/1 (Rhodopsin-like receptors)	8	8.7×	9e-04
Neutrophil degranulation	14	4.8×	5e-04

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of cytosolic calcium ion concentration	7	8.6×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

325 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	125
Likely benign	149
Benign	26

Top pathogenic / likely-pathogenic (0)

SpliceAI

1405 predictions. Top by Δscore:

Variant	Effect	Δscore
11:2377614:GG:G	donor_gain	1.0000
11:2377615:GG:G	donor_gain	1.0000
11:2377615:GGTA:G	donor_loss	1.0000
11:2377616:G:GA	donor_loss	1.0000
11:2390407:CCCA:C	acceptor_loss	1.0000
11:2390408:CCA:C	acceptor_loss	1.0000
11:2390409:CA:C	acceptor_loss	1.0000
11:2390410:A:AC	acceptor_loss	1.0000
11:2390410:A:AG	acceptor_gain	1.0000
11:2390410:AGCT:A	acceptor_gain	1.0000
11:2390411:G:GG	acceptor_gain	1.0000
11:2390411:GC:G	acceptor_gain	1.0000
11:2390411:GCT:G	acceptor_gain	1.0000
11:2390411:GCTG:G	acceptor_gain	1.0000
11:2390523:GTAG:G	donor_gain	1.0000
11:2390525:AGG:A	donor_loss	1.0000
11:2390527:G:GG	donor_gain	1.0000
11:2390527:GT:G	donor_loss	1.0000
11:2390528:T:A	donor_loss	1.0000
11:2394089:C:CA	acceptor_gain	1.0000
11:2394089:CGCAA:C	acceptor_loss	1.0000
11:2394090:GCAAG:G	acceptor_loss	1.0000
11:2394091:CAAG:C	acceptor_loss	1.0000
11:2394092:A:AG	acceptor_gain	1.0000
11:2394093:A:G	acceptor_gain	1.0000
11:2394094:G:GA	acceptor_loss	1.0000
11:2394094:G:GG	acceptor_gain	1.0000
11:2394169:G:GT	donor_gain	1.0000
11:2394188:GGACG:G	donor_gain	1.0000
11:2394189:GACG:G	donor_gain	1.0000

AlphaMissense

1557 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:2390418:G:A	G25R	0.999
11:2390418:G:C	G25R	0.999
11:2390419:G:A	G25E	0.999
11:2390433:G:C	G30R	0.999
11:2390434:G:A	G30D	0.999
11:2390449:T:C	L35P	0.999
11:2394118:G:C	G69R	0.999
11:2394119:G:A	G69D	0.999
11:2394139:G:C	G76R	0.999
11:2394140:G:A	G76D	0.999
11:2394148:G:C	G79R	0.999
11:2394149:G:A	G79D	0.999
11:2394157:G:T	G82W	0.999
11:2394158:G:A	G82E	0.999
11:2394972:T:C	F94L	0.999
11:2394974:C:A	F94L	0.999
11:2394974:C:G	F94L	0.999
11:2394981:T:C	C97R	0.999
11:2395002:T:C	C104R	0.999
11:2395012:C:A	A107D	0.999
11:2395015:C:A	A108D	0.999
11:2395018:G:A	G109D	0.999
11:2396814:T:G	M220R	0.999
11:2396822:A:C	S223R	0.999
11:2396824:C:A	S223R	0.999
11:2396824:C:G	S223R	0.999
11:2394107:T:A	L65H	0.998
11:2394113:C:A	A67D	0.998
11:2394157:G:A	G82R	0.998
11:2394157:G:C	G82R	0.998

dbSNP variants (sampled 300 via entrez): RS1000018888 (11:2391973 C>T), RS1000045433 (11:2377012 C>G), RS1000131388 (11:2392198 T>C), RS1000250300 (11:2391628 T>A,G), RS1000324215 (11:2381990 C>T), RS1000407765 (11:2391489 G>A), RS1000428001 (11:2395747 C>A,T), RS1000481116 (11:2387285 G>A), RS1000516644 (11:2387184 C>T), RS1000544773 (11:2378002 C>T), RS1000584498 (11:2390729 A>C), RS1000616576 (11:2376828 C>G,T), RS1000650499 (11:2383286 A>G), RS1000691971 (11:2394917 G>C), RS1000968074 (11:2396243 C>G,T)

Disease associations

OMIM: gene MIM:186845 | disease phenotypes: MIM:613496

GenCC curated gene-disease

Disease	Classification	Inheritance
common variable immunodeficiency	Supportive	Autosomal dominant
immunodeficiency, common variable, 6	Limited	Unknown

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
immunodeficiency, common variable, 6	Limited	AR

Mondo (2): immunodeficiency, common variable, 6 (MONDO:0013286), common variable immunodeficiency (MONDO:0015517)

Orphanet (1): OBSOLETE: Common variable immunodeficiency (Orphanet:1572)

HPO phenotypes

19 total (19 of 19 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000099	Glomerulonephritis
HP:0000105	Enlarged kidney
HP:0000126	Hydronephrosis
HP:0000979	Purpura
HP:0001973	Autoimmune thrombocytopenia
HP:0002205	Recurrent respiratory infections
HP:0002240	Hepatomegaly
HP:0002718	Recurrent bacterial infections
HP:0002829	Arthralgia
HP:0003774	Stage 5 chronic kidney disease
HP:0010975	Abnormal B cell count
HP:0011839	Abnormal total T cell count
HP:0012476	Decreased specific pneumococcal antibody level
HP:0012587	Macroscopic hematuria
HP:0012593	Nephrotic range proteinuria
HP:0032134	Chronic decreased circulating total IgG
HP:0033295	Mesangial Immune complex deposition
HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST010725_20	Malaria	4.000000e-69
GCST010725_33	Malaria	2.000000e-67
GCST010725_51	Malaria	1.000000e-55

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D017074	Common Variable Immunodeficiency	C20.673.330

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL1075180 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.68	Kd	21	nM	ECHINOCYSTIC ACID
7.42	Kd	37.8	nM	CHEMBL4546270
7.41	Kd	39.2	nM	CHEMBL4546270
7.18	Kd	66.5	nM	CHEMBL4446488

PubChem BioAssay actives

4 with measured affinity, of 15 total; 3 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
(4aR,5R,6aR,6aS,6bR,8aR,10S,12aR,14bR)-5,10-dihydroxy-2,2,6a,6b,9,9,12a-heptamethyl-1,3,4,5,6,6a,7,8,8a,10,11,12,13,14b-tetradecahydropicene-4a-carboxylic acid	750450: Binding affinity to CD81 (unknown origin)	kd	0.0210	uM
(1S,2S,3R)-3-acetyl-2-[(E)-4-carboxypent-3-enyl]-2-methylcyclobutane-1-carboxylic acid	1535566: Binding affinity to CD81 (unknown origin) by surface plasmon resonance assay	kd	0.0378	uM
(1S,2S,3R)-3-[(1S)-1-carboxy-1-hydroxyethyl]-2-[(E)-4-carboxypent-3-enyl]-2-methylcyclobutane-1-carboxylic acid	1535566: Binding affinity to CD81 (unknown origin) by surface plasmon resonance assay	kd	0.0665	uM

CTD chemical–gene interactions

65 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	affects cotreatment, increases abundance, increases expression, affects methylation	2
Vehicle Emissions	decreases expression, increases abundance	2
Benzo(a)pyrene	affects methylation	2
Cadmium	increases expression, decreases reaction, increases abundance, increases palmitoylation	2
Doxorubicin	affects expression, increases expression	2
Plant Extracts	affects cotreatment, decreases expression, increases expression	2
Smoke	decreases expression, increases expression	2
Cadmium Chloride	decreases reaction, increases abundance, increases palmitoylation, increases expression	2
Particulate Matter	affects methylation, increases abundance, decreases expression	2
bisphenol F	increases expression, affects cotreatment	1
beauvericin	affects cotreatment, increases expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
bisphenol A	decreases methylation	1
sodium arsenate	decreases expression	1
beta-lapachone	increases expression	1
sodium arsenite	increases expression	1
2-bromopalmitate	decreases reaction, increases abundance, increases palmitoylation	1
ochratoxin A	increases acetylation, increases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
chloropicrin	decreases expression	1
enniatins	affects cotreatment, increases expression	1
bisphenol B	increases expression	1
abrine	decreases expression	1
eprenetapopt	increases expression, affects reaction	1
MT19c compound	decreases expression	1
bisphenol AF	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1

ChEMBL screening assays

7 unique, capped per target: 7 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1099753	Binding	Inhibition of human recombinant GST-tagged CD81 protein assessed as HCV E1E2 binding after 1 hr by Western blot analysis	Lamiridosins, hepatitis C virus entry inhibitors from Lamium album. — J Nat Prod

Cellosaurus cell lines

18 cell lines: 15 cancer cell line, 2 transformed cell line, 1 spontaneously immortalized cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B7WL	Abcam Raji CD81 KO	Cancer cell line	Male
CVCL_B9X6	Abcam THP-1 CD81 KO	Cancer cell line	Male
CVCL_C5RN	HepG2-CD81	Cancer cell line	Male
CVCL_C5RP	HepG2/CD81++	Cancer cell line	Male
CVCL_C6Z3	Abcam PC-3 CD81 KO	Cancer cell line	Male
CVCL_D7M8	Ubigene A-549 CD81 KO	Cancer cell line	Male
CVCL_D9BJ	Ubigene HEK293 CD81 KO	Transformed cell line	Female
CVCL_E8TN	CHO-CD81/SR-B1	Spontaneously immortalized cell line	Female
CVCL_F1QN	HyCyte HMy2.C1R KO-hCD81	Transformed cell line	Female
CVCL_SH91	HAP1 CD81 (-) 1	Cancer cell line	Male

Clinical trials (associated diseases)

42 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00520494	PHASE4	COMPLETED	Efficacy and Safety of Vivaglobin® in Previously Untreated Patients With Primary Immunodeficiency
NCT01289847	PHASE4	COMPLETED	A Study to Find Out How Safe and Effective Gammaplex® is in Young People With Primary Immunodeficiency
NCT01946906	PHASE4	COMPLETED	The Rifaximin Study in CVID
NCT05193552	PHASE4	RECRUITING	Usage of Spirometry in Managing IgG Therapy in CVID With Airway Disease
NCT00168012	PHASE3	COMPLETED	Efficacy and Safety of Intravenous Immunoglobulin IVIG-F10 in Patients With Primary Immunodeficiencies (PID)
NCT00168025	PHASE3	COMPLETED	Efficacy and Safety of Intravenous Immunoglobulin IgPro10 in Patients With Primary Immunodeficiencies (PID)
NCT00220766	PHASE3	COMPLETED	Rapid Infusion of Immune Globulin Intravenous (Human) In Primary Immunodeficiency Patients
NCT00322556	PHASE3	COMPLETED	Safety and Efficacy of Intravenous Immunoglobulin IgPro10 in Patients With Primary Immunodeficiencies (PID)
NCT00542997	PHASE3	COMPLETED	Study of Subcutaneous Immune Globulin in Patients Requiring IgG Replacement Therapy
NCT01884311	PHASE3	COMPLETED	Pharmacokinetics (PK) and Safety of Subgam-VF in Primary Immunodeficiency Diseases
NCT01963143	PHASE3	COMPLETED	Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases
NCT02247141	PHASE3	COMPLETED	A Multi-centre Open Study to Assess the Safety and Efficacy of Subgam®
NCT01489618	PHASE2	TERMINATED	Prime Boost Vaccination Strategy Combining Conjugated Anti- Pneumococcal Vaccine (s0) and Polysaccharide Anti- Pneumococcal Vaccine (s4) Compared to Polysaccharide Anti- Pneumococcal Vaccine Alone (s4) In Patients With Common Variable Immunodeficiency
NCT01821781	PHASE2	ACTIVE_NOT_RECRUITING	Immune Disorder HSCT Protocol
NCT02579967	PHASE2	RECRUITING	Pilot Trial of Allogeneic Blood or Marrow Transplantation for Primary Immunodeficiencies
NCT03663933	PHASE2	ACTIVE_NOT_RECRUITING	Allogeneic Hematopoietic Cell Transplantation for Disorders of T-cell Proliferation and/or Dysregulation
NCT04339777	PHASE2	RECRUITING	Allogeneic Hematopoietic Stem Cell Transplant for Patients With Inborn Errors of Immunity
NCT04925375	PHASE2	RECRUITING	Abatacept for the Treatment of Common Variable Immunodeficiency With Interstitial Lung Disease
NCT05593588	PHASE2	ENROLLING_BY_INVITATION	Senolytics Treatment of Interstitial Lung Disease in Common Variable Immunodeficiency
NCT06897358	PHASE2	ACTIVE_NOT_RECRUITING	Leniolisib for Immune Dysregulation in CVID
NCT07284641	PHASE2	RECRUITING	Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)
NCT00263237	PHASE1	COMPLETED	STA-5326 Meslylate to Treat Gut Inflammation Associated With Common Variable Immunodeficiency
NCT01852370	PHASE1/PHASE2	ENROLLING_BY_INVITATION	Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases
NCT03513328	PHASE1/PHASE2	COMPLETED	Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation
NCT00004695	Not specified	COMPLETED	Randomized Study of Polyethylene-Glycol-Conjugated Interleukin 2 in Patients With Common Variable Immunodeficiency
NCT00006054	Not specified	TERMINATED	Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies
NCT00015431	Not specified	COMPLETED	Immune System and Gut Abnormalities in Patients With Common Variable Immunodeficiency With and Without Gastrointestinal Symptoms
NCT00661401	Not specified	COMPLETED	Specific IgG Antibody in Patients With Primary Antibody Deficiencies Treated With Subcutaneous Immunoglobulin
NCT00943514	Not specified	RECRUITING	Natural History of Bronchiectasis
NCT01196702	Not specified	COMPLETED	Lymphocyte Immunophenotyping in Common Variable Immunodeficiency
NCT01652092	Not specified	ACTIVE_NOT_RECRUITING	Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies
NCT01981785	Not specified	UNKNOWN	Investigation of Immune Disorders and Deficiencies
NCT02960399	Not specified	TERMINATED	Assessment of Immunogenicity of Zostavax® in Patients With Antibody Deficiency 60 Years of Age and Older
NCT03188419	Not specified	COMPLETED	Breadth of Donor Options for People With Inherited Diseases Requiring Allogeneic Hematopoietic Stem Cell Transplant in the Era of Alternative Donor Transplants Using Post-Transplantation Cyclophosphamide
NCT03211689	Not specified	COMPLETED	The Impact of Exercise on Stress, Fatigue, and Quality of Life in Individuals With Primary Immunodeficiency Disease
NCT03534479	Not specified	COMPLETED	Human IgGs and Endothelial Function in Vivo in Humans
NCT05310604	Not specified	COMPLETED	Early Detection of Primary Antibody Deficiencies in Primary Care Facilities by an Algorithm Driven Selection of Serologic Testing in Individuals at Risk.
NCT05321407	Not specified	ACTIVE_NOT_RECRUITING	COVID-19 Vaccine Responses in PIDD Subjects
NCT05481554	Not specified	UNKNOWN	Composition and Function of Gut Microbiota in Porto-sinusoidal Vascular Disease Associated With Variable Common Immunodeficiency
NCT06145100	Not specified	COMPLETED	Prediction of Portal Hypertension in Patients With CVID (CVID-pHT)