NUDCD3

Summary

NUDCD3 (NudC domain containing 3, HGNC:22208) is a protein-coding gene on chromosome 7p13, encoding NudC domain-containing protein 3 (Q8IVD9). It is a selective cancer dependency (DepMap: 60.8% of cell lines).

The product of this gene functions to maintain the stability of dynein intermediate chain. Depletion of this gene product results in aggregation and degradation of dynein intermediate chain, mislocalization of the dynein complex from kinetochores, spindle microtubules, and spindle poles, and loss of gamma-tubulin from spindle poles. The protein localizes to the Golgi apparatus during interphase, and levels of the protein increase after the G1/S transition.

Source: NCBI Gene 23386 — RefSeq curated summary.

At a glance

• Gene–disease (curated): severe combined immunodeficiency (Strong, GenCC)
• GWAS associations: 2
• Clinical variants (ClinVar): 55 total — 1 likely-pathogenic
• Cancer dependency (DepMap): dependent in 60.8% of screened cell lines
• MANE Select transcript: NM_015332

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:22208
Approved symbol	NUDCD3
Name	NudC domain containing 3
Location	7p13
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1068, NudCL
Ensembl gene	ENSG00000015676
Ensembl biotype	protein_coding
OMIM	610296
Entrez	23386

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 8 protein_coding_CDS_not_defined, 4 protein_coding, 2 retained_intron

ENST00000338427, ENST00000355451, ENST00000460110, ENST00000464812, ENST00000472246, ENST00000475952, ENST00000478769, ENST00000480209, ENST00000487118, ENST00000493613, ENST00000497978, ENST00000873878, ENST00000873879, ENST00000962334

RefSeq mRNA: 1 — MANE Select: NM_015332 NM_015332

CCDS: CCDS5490

Canonical transcript exons

ENST00000355451 — 6 exons

Exon	Start	End
ENSE00001551580	44379119	44386121
ENSE00001700145	44490409	44490658
ENSE00003554652	44484968	44485284
ENSE00003650008	44427571	44427703
ENSE00003655068	44404440	44404583
ENSE00003676277	44392297	44392485

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 97.17.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.9815 / max 559.7910, expressed in 1821 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
83875	33.9815	1821

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	97.17	gold quality
prefrontal cortex	UBERON:0000451	97.10	gold quality
right frontal lobe	UBERON:0002810	96.79	gold quality
Brodmann (1909) area 9	UBERON:0013540	96.51	gold quality
cerebellar hemisphere	UBERON:0002245	96.46	gold quality
right hemisphere of cerebellum	UBERON:0014890	96.43	gold quality
cerebellar cortex	UBERON:0002129	96.37	gold quality
gastrocnemius	UBERON:0001388	96.27	gold quality
muscle of leg	UBERON:0001383	96.23	gold quality
stromal cell of endometrium	CL:0002255	96.09	gold quality
nucleus accumbens	UBERON:0001882	95.99	gold quality
cerebellum	UBERON:0002037	95.66	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	95.54	gold quality
islet of Langerhans	UBERON:0000006	95.43	gold quality
hindlimb stylopod muscle	UBERON:0004252	95.25	gold quality
sural nerve	UBERON:0015488	95.25	gold quality
popliteal artery	UBERON:0002250	95.16	gold quality
tibial artery	UBERON:0007610	95.15	gold quality
putamen	UBERON:0001874	95.09	gold quality
caudate nucleus	UBERON:0001873	95.07	gold quality
primary visual cortex	UBERON:0002436	95.06	gold quality
ganglionic eminence	UBERON:0004023	95.01	gold quality
frontal cortex	UBERON:0001870	94.98	gold quality
middle temporal gyrus	UBERON:0002771	94.95	gold quality
aorta	UBERON:0000947	94.94	gold quality
occipital lobe	UBERON:0002021	94.94	gold quality
neocortex	UBERON:0001950	94.86	gold quality
descending thoracic aorta	UBERON:0002345	94.85	gold quality
lower esophagus muscularis layer	UBERON:0035833	94.75	gold quality
lower esophagus	UBERON:0013473	94.74	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-110499	no	411.49
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

82 targeting NUDCD3, 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-150-5P	99.99	66.69	1976
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-4648	99.91	67.00	710
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-1976	99.74	65.48	1127
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-4663	99.62	65.33	957
HSA-MIR-488-3P	99.61	68.79	1731
HSA-MIR-6861-3P	99.60	68.46	444
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-516B-5P	99.56	66.33	1495
HSA-MIR-510-3P	99.54	70.06	2965
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-1324	99.46	66.57	1302
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-2392	99.43	67.50	708

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 60.8% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 2)

• Data characterize a previously undescribed mammalian NudC-like protein (NudCL), which appears to influence the stabilization of dynein intermediate chain (PMID:16754861)
• overexpression of NudCL inhibits cytokinesis (PMID:19806165)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	nudcd3	ENSDARG00000098361
mus_musculus	Nudcd3	ENSMUSG00000053838
rattus_norvegicus	Nudcd3	ENSRNOG00000056148
drosophila_melanogaster	CG31251	FBGN0051251

Paralogs (2): NUDC (ENSG00000090273), NUDCD2 (ENSG00000170584)

Protein

Protein identifiers

NudC domain-containing protein 3 — Q8IVD9 (reviewed: Q8IVD9)

All UniProt accessions (1): Q8IVD9

RefSeq proteins (1): NP_056147* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007052	CS_dom	Domain
IPR008978	HSP20-like_chaperone	Homologous_superfamily
IPR025934	NudC_N_dom	Domain
IPR037898	NudC_fam	Family
IPR037905	p23_NUDCD3	Domain

Pfam: PF04969, PF14050

UniProt features (23 total): strand 9, modified residue 3, sequence variant 2, region of interest 2, compositionally biased region 2, chain 1, domain 1, sequence conflict 1, helix 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1WGV	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IVD9-F1	80.39	0.50

Functional residue map

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

Post-translational modifications (3): 146, 340, 355

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 138 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GOBP_PROTEIN_LOCALIZATION_TO_CYTOSKELETON, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, LINDGREN_BLADDER_CANCER_CLUSTER_2A_DN, GOBP_PROTEIN_MATURATION, GOBP_CILIUM_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY, GOBP_PROTEIN_FOLDING, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, chr7p13, GOBP_CELL_PROJECTION_ORGANIZATION, HAN_SATB1_TARGETS_DN, ZHENG_BOUND_BY_FOXP3, ZHENG_FOXP3_TARGETS_IN_THYMUS_UP, GOCC_CYTOPLASMIC_DYNEIN_COMPLEX

GO Biological Process (3): protein folding (GO:0006457), cilium assembly (GO:0060271), protein localization to pericentriolar material (GO:1905793)

GO Molecular Function (2): obsolete unfolded protein binding (GO:0051082), protein binding (GO:0005515)

GO Cellular Component (2): cytoplasm (GO:0005737), cytoplasmic dynein complex (GO:0005868)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular process	1
protein maturation	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
protein localization to centrosome	1
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
dynein complex	1

Protein interactions and networks

STRING

1362 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NUDCD3	DYNC1H1	Q14204	781
NUDCD3	PTGES3	Q15185	781
NUDCD3	DYNC1I1	O14576	763
NUDCD3	NUDCD2	Q8WVJ2	713
NUDCD3	TUBG1	P23258	593
NUDCD3	KLHL38	Q2WGJ6	528
NUDCD3	NUDCD1	Q96RS6	506
NUDCD3	HSP90AA1	P07900	500
NUDCD3	UBFD1	O14562	489
NUDCD3	PAFAH1B1	P43034	489
NUDCD3	INTS15	Q96N11	480
NUDCD3	FBXO24	O75426	456
NUDCD3	TMEM68	Q96MH6	453
NUDCD3	PIGT	Q969N2	446
NUDCD3	MEA1	Q16626	441

IntAct

231 interactions, top by confidence:

A	B	Type	Score
ATG13	ULK1	psi-mi:“MI:2364”(proximity)	0.940
PEF1	PDCD6	psi-mi:“MI:0914”(association)	0.900
KLHL12	KLHL2	psi-mi:“MI:0914”(association)	0.850
RPGR	NPHP4	psi-mi:“MI:2364”(proximity)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
KLHL6	NUDCD3	psi-mi:“MI:0914”(association)	0.670
HSP90AA1	CHUK	psi-mi:“MI:0914”(association)	0.670
KLHL22	TMEM223	psi-mi:“MI:0914”(association)	0.640
KLHDC10	CUL2	psi-mi:“MI:0914”(association)	0.640
CUL3	ENC1	psi-mi:“MI:0914”(association)	0.640
KLHL23	NUDCD3	psi-mi:“MI:0915”(physical association)	0.640
KLHL22	METTL15	psi-mi:“MI:0914”(association)	0.640
KLHL15	TOR1AIP1	psi-mi:“MI:0914”(association)	0.640
KLHL9	ENC1	psi-mi:“MI:0914”(association)	0.640
PHLPP1	USP12	psi-mi:“MI:0914”(association)	0.570
KLHL1	NUDCD3	psi-mi:“MI:0915”(physical association)	0.560
CEP104	CCDC66	psi-mi:“MI:2364”(proximity)	0.540
KLHDC8A	PEX7	psi-mi:“MI:0914”(association)	0.530
HCFC2	SETD1A	psi-mi:“MI:0914”(association)	0.530
KBTBD4	KPNA5	psi-mi:“MI:0914”(association)	0.530
KLHDC2	PFDN1	psi-mi:“MI:0914”(association)	0.530
ENC1	PLIN5	psi-mi:“MI:0914”(association)	0.530
KLHL14	KCTD21	psi-mi:“MI:0914”(association)	0.530
HSP90AA1	USP19	psi-mi:“MI:0914”(association)	0.530
KLHDC3	DPYSL4	psi-mi:“MI:0914”(association)	0.530

BioGRID (206): CCNDBP1 (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-3 (Two-hybrid), NUDCD3 (Affinity Capture-MS), NUDCD3 (Affinity Capture-MS), NUDCD3 (Affinity Capture-MS), NUDCD3 (Affinity Capture-MS), NUDCD3 (Two-hybrid), NAE1 (Co-fractionation), NUDCD3 (Proximity Label-MS), NUDCD3 (Proximity Label-MS), NUDCD3 (Proximity Label-MS), NUDCD3 (Proximity Label-MS), NUDCD3 (Proximity Label-MS), NUDCD3 (Proximity Label-MS)

ESM2 similar proteins: A1Z623, A2SXS5, A8YXY3, F1LQY6, O02718, O19011, O60613, P01137, P04202, P07200, P09533, P11456, P18341, P50747, P54831, Q08BI9, Q0P5I0, Q1LZ96, Q2KIJ6, Q2TBX5, Q38HS2, Q3UHE1, Q3UX43, Q58CS8, Q5C9Z4, Q5R812, Q5RB75, Q6IEE6, Q6PCX7, Q6X4M2, Q802F3, Q802G7, Q8BJQ9, Q8IVD9, Q8NC56, Q8R1N4, Q8R1T1, Q8TDX6, Q8VHC3, Q8WUX9

Diamond homologs: O35685, O60166, P17624, Q17QG2, Q54M64, Q5RB75, Q5ZIN1, Q63525, Q8IVD9, Q9LV09, Q9STN7, Q9VVA6, Q9Y266, Q8R1N4, Q503C8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 212 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
Chaperone Mediated Autophagy	5	17.4×	1e-03
Aggrephagy	6	10.4×	3e-03
HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand	7	9.5×	1e-03
Macroautophagy	10	8.1×	2e-04
Neddylation	18	6.0×	9e-07
Class I MHC mediated antigen processing & presentation	10	4.9×	4e-03
Antigen processing: Ubiquitination & Proteasome degradation	16	4.2×	4e-04

GO biological processes:

GO term	Partners	Fold	FDR
protein localization to phagophore assembly site	5	26.1×	3e-04
proteasome-mediated ubiquitin-dependent protein catabolic process	26	7.1×	5e-12
protein folding	11	6.0×	6e-04
ubiquitin-dependent protein catabolic process	14	5.5×	1e-04
protein ubiquitination	25	5.5×	4e-09

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	44
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3391111	NM_015332.4(NUDCD3):c.938A>C (p.His313Pro)	Likely pathogenic

SpliceAI

1950 predictions. Top by Δscore:

Variant	Effect	Δscore
7:44392296:CCAG:C	donor_gain	1.0000
7:44392318:G:A	donor_gain	1.0000
7:44392486:CTGGG:C	acceptor_loss	1.0000
7:44404451:T:TA	donor_gain	1.0000
7:44404452:C:A	donor_gain	1.0000
7:44427566:ATTAC:A	donor_loss	1.0000
7:44427567:TTAC:T	donor_loss	1.0000
7:44427568:TAC:T	donor_loss	1.0000
7:44427569:A:AT	donor_loss	1.0000
7:44427702:TC:T	acceptor_gain	1.0000
7:44427703:CC:C	acceptor_gain	1.0000
7:44427703:CCTGA:C	acceptor_loss	1.0000
7:44427705:T:G	acceptor_loss	1.0000
7:44485091:T:TA	donor_gain	1.0000
7:44385999:T:A	donor_gain	0.9900
7:44392275:T:A	donor_gain	0.9900
7:44392348:AAG:A	donor_gain	0.9900
7:44392364:G:GA	donor_gain	0.9900
7:44392373:T:TA	donor_gain	0.9900
7:44392481:TTCAC:T	acceptor_gain	0.9900
7:44392482:TCAC:T	acceptor_gain	0.9900
7:44392483:CAC:C	acceptor_gain	0.9900
7:44392483:CACC:C	acceptor_gain	0.9900
7:44392484:AC:A	acceptor_gain	0.9900
7:44392485:CC:C	acceptor_gain	0.9900
7:44392486:C:CC	acceptor_gain	0.9900
7:44404433:AACTT:A	donor_loss	0.9900
7:44404434:ACTTA:A	donor_loss	0.9900
7:44404435:CT:C	donor_loss	0.9900
7:44404436:TTAC:T	donor_loss	0.9900

AlphaMissense

2386 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:44386071:G:C	F342L	0.999
7:44386071:G:T	F342L	0.999
7:44386072:A:C	F342C	0.999
7:44386072:A:G	F342S	0.999
7:44386073:A:G	F342L	0.999
7:44386092:C:A	W335C	0.999
7:44386092:C:G	W335C	0.999
7:44386094:A:G	W335R	0.999
7:44386094:A:T	W335R	0.999
7:44386105:A:G	L331P	0.999
7:44392331:T:G	Q314P	0.999
7:44392349:A:G	L308P	0.999
7:44392455:A:G	W273R	0.999
7:44392455:A:T	W273R	0.999
7:44404444:A:T	V261D	0.999
7:44404469:A:G	W253R	0.999
7:44404469:A:T	W253R	0.999
7:44427639:A:G	W192R	0.999
7:44427639:A:T	W192R	0.999
7:44490488:G:A	T38I	0.999
7:44490494:C:G	R36P	0.999
7:44490502:G:C	F33L	0.999
7:44490502:G:T	F33L	0.999
7:44490504:A:G	F33L	0.999
7:44490551:A:G	L17P	0.999
7:44386056:G:C	F347L	0.998
7:44386056:G:T	F347L	0.998
7:44386058:A:G	F347L	0.998
7:44392458:A:G	W272R	0.998
7:44392458:A:T	W272R	0.998

dbSNP variants (sampled 300 via entrez): RS1000026537 (7:44405539 C>T), RS1000051076 (7:44450384 G>A), RS1000084565 (7:44462626 T>C), RS1000114174 (7:44379440 G>A), RS1000149579 (7:44420876 T>C), RS1000169622 (7:44379742 C>A,T), RS1000180145 (7:44420616 T>C), RS1000186638 (7:44469087 A>C,G), RS1000191679 (7:44462753 C>T), RS1000194344 (7:44465313 C>T), RS1000260124 (7:44412726 G>A), RS1000272230 (7:44384807 C>T), RS1000295031 (7:44433746 T>C), RS1000300236 (7:44455882 C>T), RS1000324808 (7:44427757 C>T)

Disease associations

OMIM: gene MIM:610296 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
severe combined immunodeficiency	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
severe combined immunodeficiency	Limited	AR

Mondo (1): severe combined immunodeficiency (MONDO:0015974)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST006998_3	Cerebrospinal fluid p-tau levels in mild cognitive impairment	4.000000e-07
GCST007741_35	Iris color (b* coordinate)	7.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004760	t-tau measurement
EFO:0009764	eye colour measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D016511	Severe Combined Immunodeficiency	C16.320.798.750; C16.614.815; C18.452.284.800; C20.673.795.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, decreases expression, affects cotreatment	3
Rotenone	decreases expression	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
butyraldehyde	decreases expression	1
perfluorooctanoic acid	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
azoxystrobin	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
deguelin	decreases expression	1
picoxystrobin	decreases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Cadmium	increases abundance, increases expression	1
Dimethyl Sulfoxide	increases expression	1
Ivermectin	decreases expression	1
Lead	affects expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Methotrexate	decreases expression	1
Thiram	decreases expression	1
Fatty Acids, Omega-3	decreases expression	1
Copper Sulfate	decreases expression	1
Fatty Acids, Omega-6	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00220766	PHASE3	COMPLETED	Rapid Infusion of Immune Globulin Intravenous (Human) In Primary Immunodeficiency Patients
NCT01420627	PHASE3	COMPLETED	EZN-2279 in Patients With ADA-SCID
NCT06940570	PHASE3	SUSPENDED	Methadone as an Alternative Treatment for Children Underdoing HSCT
NCT00000603	PHASE2	COMPLETED	Cord Blood Stem Cell Transplantation Study (COBLT)
NCT00794508	PHASE2	COMPLETED	MND-ADA Transduction of CD34+ Cells From Children With ADA-SCID
NCT01182675	PHASE2	TERMINATED	Hematopoietic Stem Cell Transplantation (HSCT) for Children With SCID Utilizing Alemtuzumab, Plerixafor & Filgrastim
NCT01529827	PHASE2	COMPLETED	Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies
NCT01821781	PHASE2	ACTIVE_NOT_RECRUITING	Immune Disorder HSCT Protocol
NCT02177760	PHASE2	WITHDRAWN	Sirolimus Prophylaxis for aGVHD in TME SCID
NCT03619551	PHASE2	ACTIVE_NOT_RECRUITING	Conditioning SCID Infants Diagnosed Early
NCT00008450	PHASE1	COMPLETED	Total-Body Irradiation Followed By Cyclosporine and Mycophenolate Mofetil in Treating Patients With Severe Combined Immunodeficiency Undergoing Donor Bone Marrow Transplant
NCT00028236	PHASE1	COMPLETED	Stem Cell Gene Therapy to Treat X-Linked Severe Combined Immunodeficiency (XSCID)
NCT00152100	PHASE1	COMPLETED	Transplantation of Hematopoietic Cells in Children With Severe Combined Immunodeficiency Syndrome
NCT02860559	PHASE1	UNKNOWN	Safety and Early Efficacy Study of TBX-1400 in Patients With Severe Combined Immunodeficiency
NCT01019876	PHASE2/PHASE3	COMPLETED	Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases
NCT00228852	PHASE1/PHASE2	COMPLETED	IMM 0212: Busulfan With Fludarabine and Antithymocyte Globulin as Preparative Therapy for Hematopoietic Stem Cell Transplant for the Treatment of Severe Congenital T-Cell Immunodeficiency
NCT00579137	PHASE1/PHASE2	TERMINATED	Allogeneic SCT Of Pts With SCID And Other Primary Immunodeficiency Disorders
NCT01129544	PHASE1/PHASE2	COMPLETED	Gene Transfer for Severe Combined Immunodeficiency, X-linked (SCID-X1) Using a Self-inactivating (SIN) Gammaretroviral Vector
NCT01852370	PHASE1/PHASE2	ENROLLING_BY_INVITATION	Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases
NCT02127892	PHASE1/PHASE2	TERMINATED	SCID Bu/Flu/ATG Study With T Cell Depletion
NCT02963064	PHASE1/PHASE2	TERMINATED	JSP191 Antibody Targeting Conditioning in SCID Patients
NCT03513328	PHASE1/PHASE2	COMPLETED	Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation
NCT03538899	PHASE1/PHASE2	RECRUITING	Autologous Gene Therapy for Artemis-Deficient SCID
NCT03597594	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Haplocompatible Transplant Using TCRα/β Depletion Followed by CD45RA-Depleted Donor Lymphocyte Infusions for Severe Combined Immunodeficiency (SCID)
NCT00001255	Not specified	COMPLETED	Gene Transfer Therapy for Severe Combined Immunodeficieny Disease (SCID) Due to Adenosine Deaminase (ADA) Deficiency: A Natural History Study
NCT00006054	Not specified	TERMINATED	Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies
NCT00006335	Not specified	COMPLETED	Influences on Female Adolescents’ Decisions Regarding Testing for Carrier Status of XSCID
NCT00055172	Not specified	RECRUITING	Genetic Basis of Immunodeficiency
NCT00695279	Not specified	COMPLETED	Long Term Follow Up Of Patients Who Have Received Gene Therapy Or Gene Marked Products
NCT00845416	Not specified	COMPLETED	Newborn Screening for Severe Combined Immunodeficiency (SCID) in a High-Risk Population
NCT01186913	Not specified	ENROLLING_BY_INVITATION	Natural History Study of SCID Disorders
NCT01346150	Not specified	UNKNOWN	Patients Treated for SCID (1968-Present)
NCT01652092	Not specified	ACTIVE_NOT_RECRUITING	Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies
NCT01953016	Not specified	COMPLETED	Participation in a Research Registry for Immune Disorders
NCT02231983	Not specified	UNKNOWN	Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China
NCT02590328	Not specified	COMPLETED	Neonatal Screening of Severe Combined Immunodeficiencies
NCT04049084	Not specified	ENROLLING_BY_INVITATION	An Observational LTFU Study for Patients Previously Treated With Autologous ex Vivo Gene Therapy for ADA-SCID
NCT04172181	Not specified	UNKNOWN	Multi-center Clinical Study of Cord Blood Stem Cell Transplantation for SCID
NCT04246840	Not specified	COMPLETED	Study Through Imaging of Visceral Lymphoid Organs in Patients With SCID Who Have Recieved Bone Marrow Allograft
NCT04331483	Not specified	WITHDRAWN	A Study to Assess a Physical Activity Program in Children, Adolescents and Young Adults Requiring Hematopoietic Stem Cell Allografts