SASH3

Summary

SASH3 (SAM and SH3 domain containing 3, HGNC:15975) is a protein-coding gene on chromosome Xq26.1, encoding SAM and SH3 domain-containing protein 3 (O75995). May function as a signaling adapter protein in lymphocytes.

The protein encoded by this gene contains a Src homology-3 (SH3) domain and a sterile alpha motif (SAM), both of which are found in proteins involved in cell signaling. This protein may function as a signaling adapter protein in lymphocytes.

Source: NCBI Gene 54440 — RefSeq curated summary.

At a glance

• Gene–disease (curated): combined immunodeficiency, X-linked (Definitive, ClinGen) — +1 more curated relationship
• Clinical variants (ClinVar): 98 total — 3 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 34
• MANE Select transcript: NM_018990

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15975
Approved symbol	SASH3
Name	SAM and SH3 domain containing 3
Location	Xq26.1
Locus type	gene with protein product
Status	Approved
Aliases	SLY, 753P9, SH3D6C, HACS2
Ensembl gene	ENSG00000122122
Ensembl biotype	protein_coding
OMIM	300441
Entrez	54440

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000356892, ENST00000476532

RefSeq mRNA: 1 — MANE Select: NM_018990 NM_018990

CCDS: CCDS14614

Canonical transcript exons

ENST00000356892 — 8 exons

Exon	Start	End
ENSE00000828145	129792989	129793139
ENSE00000828146	129792627	129792836
ENSE00000828147	129792328	129792476
ENSE00000828148	129790940	129791081
ENSE00000828149	129788431	129788577
ENSE00001225888	129779949	129780154
ENSE00001314211	129787975	129788070
ENSE00001823721	129793642	129795201

Expression profiles

Bgee: expression breadth ubiquitous, 130 present calls, max score 99.05.

FANTOM5 (CAGE): breadth broad, TPM avg 27.0142 / max 1509.9907, expressed in 554 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
197536	23.8352	548
197535	3.1790	412

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	99.05	gold quality
lymph node	UBERON:0000029	97.82	gold quality
leukocyte	CL:0000738	97.79	gold quality
blood	UBERON:0000178	97.76	gold quality
monocyte	CL:0000576	97.71	gold quality
spleen	UBERON:0002106	96.81	gold quality
vermiform appendix	UBERON:0001154	96.37	gold quality
bone marrow	UBERON:0002371	95.39	gold quality
bone marrow cell	CL:0002092	93.74	gold quality
right lung	UBERON:0002167	86.26	gold quality
small intestine Peyer’s patch	UBERON:0003454	85.40	gold quality
upper lobe of left lung	UBERON:0008952	85.37	gold quality
small intestine	UBERON:0002108	84.22	gold quality
tonsil	UBERON:0002372	82.90	gold quality
lung	UBERON:0002048	82.10	gold quality
duodenum	UBERON:0002114	82.01	gold quality
gall bladder	UBERON:0002110	81.86	gold quality
rectum	UBERON:0001052	81.05	gold quality
mucosa of transverse colon	UBERON:0004991	80.80	gold quality
placenta	UBERON:0001987	79.92	gold quality
right coronary artery	UBERON:0001625	78.86	gold quality
colonic epithelium	UBERON:0000397	77.56	gold quality
omental fat pad	UBERON:0010414	77.21	gold quality
right adrenal gland cortex	UBERON:0035827	76.69	gold quality
adipose tissue	UBERON:0001013	76.66	gold quality
right adrenal gland	UBERON:0001233	76.36	gold quality
subcutaneous adipose tissue	UBERON:0002190	76.24	gold quality
smooth muscle tissue	UBERON:0001135	76.17	gold quality
intestine	UBERON:0000160	76.13	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	76.10	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	12.35
E-MTAB-6379	no	1216.66
E-MTAB-5061	no	3.91
E-CURD-112	no	2.66

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

57 targeting SASH3, 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-4283	100.00	66.42	2097
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-6892-3P	99.68	66.40	1178
HSA-MIR-4499	99.62	67.29	1470
HSA-MIR-12122	99.56	69.33	1672
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-671-5P	99.52	67.11	1277
HSA-MIR-4437	99.52	65.29	1266
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-4758-3P	99.12	63.96	869
HSA-MIR-4796-3P	99.08	68.38	1681
HSA-MIR-452-3P	99.01	66.25	1241
HSA-MIR-6770-5P	98.97	66.76	1853
HSA-MIR-1245B-5P	98.88	66.55	576
HSA-MIR-3142	98.88	66.09	529
HSA-MIR-513B-3P	98.76	68.12	1577
HSA-MIR-7155-5P	98.65	66.14	1290

Literature-anchored findings (GeneRIF, showing 2)

• SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation. (PMID:33876203)
• Evans syndrome caused by a deleterious mutation affecting the adaptor protein SASH3. (PMID:37646304)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	sash3	ENSDARG00000016541
mus_musculus	Sash3	ENSMUSG00000031101
rattus_norvegicus	Sash3	ENSRNOG00000004409

Paralogs (2): SASH1 (ENSG00000111961), SAMSN1 (ENSG00000155307)

Protein

Protein identifiers

SAM and SH3 domain-containing protein 3 — O75995 (reviewed: O75995)

Alternative names: SH3 protein expressed in lymphocytes homolog

All UniProt accessions (1): O75995

UniProt curated annotations — full annotation on UniProt →

Function. May function as a signaling adapter protein in lymphocytes.

Disease relevance. Immunodeficiency 102 (IMD102) [MIM:301082] An X-linked recessive disorder characterized by recurrent sinopulmonary, cutaneous and mucosal infections, and refractory autoimmune cytopenias that appear in early childhood. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. The disorder may also manifest as a hyperinflammatory state with immune dysregulation. The disease is caused by variants affecting the gene represented in this entry.

RefSeq proteins (1): NP_061863* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001452	SH3_domain	Domain
IPR001660	SAM	Domain
IPR013761	SAM/pointed_sf	Homologous_superfamily
IPR021090	SPIDER	Domain
IPR035721	SASH3_SH3	Domain
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR051725	SAM-SH3_domain_protein	Family

Pfam: PF00536, PF07653, PF12485

UniProt features (31 total): modified residue 13, compositionally biased region 5, sequence variant 4, region of interest 4, domain 2, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75995-F1	66.11	0.32

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 (13): 27, 34, 42, 61, 97, 103, 110, 112, 113, 116, 120, 318, 320

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 405 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_POSITIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOBP_REGULATION_OF_ALPHA_BETA_T_CELL_ACTIVATION, MCLACHLAN_DENTAL_CARIES_UP, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, GOBP_B_CELL_ACTIVATION, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOBP_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION_INVOLVED_IN_IMMUNE_RESPONSE, MODULE_45, GOBP_ALPHA_BETA_T_CELL_DIFFERENTIATION, GOBP_GROWTH, GOBP_B_CELL_PROLIFERATION

GO Biological Process (19): B cell homeostasis (GO:0001782), positive regulation of immunoglobulin production (GO:0002639), positive regulation of T cell cytokine production (GO:0002726), positive regulation of adaptive immune response (GO:0002821), positive regulation of B cell proliferation (GO:0030890), positive regulation of type II interferon production (GO:0032729), positive regulation of interleukin-10 production (GO:0032733), positive regulation of interleukin-2 production (GO:0032743), positive regulation of interleukin-4 production (GO:0032753), positive regulation of tumor necrosis factor production (GO:0032760), T cell proliferation (GO:0042098), B cell proliferation (GO:0042100), positive regulation of T cell proliferation (GO:0042102), CD4-positive, alpha-beta T cell differentiation (GO:0043367), positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372), positive regulation of organ growth (GO:0046622), homeostasis of number of cells within a tissue (GO:0048873), regulation of intracellular signal transduction (GO:1902531), positive regulation of lymphocyte activation (GO:0051251)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
positive regulation of cytokine production	4
positive regulation of lymphocyte proliferation	2
lymphocyte proliferation	2
lymphocyte homeostasis	1
immunoglobulin production	1
regulation of immunoglobulin production	1
positive regulation of production of molecular mediator of immune response	1
T cell cytokine production	1
positive regulation of T cell mediated immunity	1
positive regulation of cytokine production involved in immune response	1
regulation of T cell cytokine production	1
adaptive immune response	1
regulation of adaptive immune response	1
positive regulation of immune response	1
regulation of B cell proliferation	1
B cell proliferation	1
positive regulation of B cell activation	1
type II interferon production	1
regulation of type II interferon production	1
interleukin-10 production	1
regulation of interleukin-10 production	1
interleukin-2 production	1
regulation of interleukin-2 production	1
interleukin-4 production	1
regulation of interleukin-4 production	1
tumor necrosis factor production	1
regulation of tumor necrosis factor production	1
positive regulation of tumor necrosis factor superfamily cytokine production	1
T cell activation	1
B cell activation	1
T cell proliferation	1
regulation of T cell proliferation	1
positive regulation of T cell activation	1
CD4-positive, alpha-beta T cell activation	1
alpha-beta T cell differentiation	1
CD4-positive, alpha-beta T cell differentiation	1
regulation of CD4-positive, alpha-beta T cell differentiation	1
positive regulation of alpha-beta T cell differentiation	1
positive regulation of CD4-positive, alpha-beta T cell activation	1
organ growth	1

Protein interactions and networks

STRING

1300 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SASH3	RASAL3	Q86YV0	482
SASH3	THEMIS2	Q5TEJ8	426
SASH3	ARHGAP30	Q7Z6I6	414
SASH3	LAPTM5	Q13571	403
SASH3	RCSD1	Q6JBY9	394
SASH3	SNX20	Q7Z614	392
SASH3	IGSF6	O95976	382
SASH3	EOLA2	Q96DE9	377
SASH3	RNF207	Q6ZRF8	373
SASH3	NCKAP1L	P55160	364
SASH3	CAMSAP3	Q9P1Y5	363
SASH3	EVI2B	P34910	352
SASH3	OR5D14	Q8NGL3	351
SASH3	TMC8	Q8IU68	350
SASH3	ACY3	Q96HD9	348

IntAct

4 interactions, top by confidence:

A	B	Type	Score
SASH3	HNRNPC	psi-mi:“MI:0915”(physical association)	0.400
SASH3	H2BC21	psi-mi:“MI:0915”(physical association)	0.400
	SASH3	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (4): HNRNPC (Proximity Label-MS), HIST2H2BE (Proximity Label-MS), SASH3 (Cross-Linking-MS (XL-MS)), APP (Reconstituted Complex)

ESM2 similar proteins: A0JN71, A4IFK0, A5PMU4, A6QQV9, O15034, O15040, O62666, O62674, O62675, O62676, O62677, O62678, O75995, P49796, P52734, P59672, P78314, P97432, P98174, Q06649, Q0V8R5, Q13905, Q14596, Q3U0J8, Q501R9, Q53GL0, Q5BJM5, Q5F3C8, Q5RC94, Q5SUE8, Q6AI12, Q6ZMT1, Q7Z5H3, Q80U40, Q80UZ0, Q80XA6, Q80YS6, Q8BL80, Q8K352, Q8N556

Diamond homologs: A0JN71, O75995, O94885, P57725, P59672, P59808, Q8K352, Q92625, Q9NSI8, Q9XYM0, Q5TGI4, A0A8I3NFE2, A5PMU4, D7PF45, O15357, P0C6S7, P54753, Q09YL6, Q2I6J1, Q61120, Q6P549, Q6P9K8, Q7Z6G8, Q8BIZ1, Q8VHK2, Q8WXD9, Q8WXE0, Q9WVR3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	1
Uncertain significance	44
Likely benign	5
Benign	4

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
1687734	NM_018990.4(SASH3):c.1039C>T (p.Arg347Cys)	Pathogenic
1687735	NM_018990.4(SASH3):c.862C>T (p.Arg288Ter)	Pathogenic
1687736	NM_018990.4(SASH3):c.733C>T (p.Arg245Ter)	Pathogenic
1687737	NM_018990.4(SASH3):c.505C>T (p.Gln169Ter)	Likely pathogenic

SpliceAI

1037 predictions. Top by Δscore:

Variant	Effect	Δscore
X:129780152:AAGG:A	donor_loss	1.0000
X:129780153:AGGTG:A	donor_loss	1.0000
X:129780154:GGTG:G	donor_loss	1.0000
X:129780155:G:GA	donor_loss	1.0000
X:129787973:A:AG	acceptor_gain	1.0000
X:129787974:G:GG	acceptor_gain	1.0000
X:129787974:GCT:G	acceptor_gain	1.0000
X:129788071:G:GG	donor_gain	1.0000
X:129788426:CACA:C	acceptor_loss	1.0000
X:129788427:ACAG:A	acceptor_loss	1.0000
X:129788428:CAGAT:C	acceptor_loss	1.0000
X:129788429:A:AG	acceptor_gain	1.0000
X:129788429:AGAT:A	acceptor_loss	1.0000
X:129788430:G:GA	acceptor_gain	1.0000
X:129788535:G:GT	donor_gain	1.0000
X:129788574:GATG:G	donor_gain	1.0000
X:129788578:G:GG	donor_gain	1.0000
X:129788579:T:A	donor_loss	1.0000
X:129790935:TGCA:T	acceptor_loss	1.0000
X:129790936:GCA:G	acceptor_loss	1.0000
X:129790938:A:AG	acceptor_gain	1.0000
X:129790938:A:C	acceptor_loss	1.0000
X:129790939:G:GA	acceptor_gain	1.0000
X:129790939:G:T	acceptor_loss	1.0000
X:129790939:GGC:G	acceptor_gain	1.0000
X:129790939:GGCA:G	acceptor_gain	1.0000
X:129791078:ACAG:A	donor_gain	1.0000
X:129791079:CAG:C	donor_gain	1.0000
X:129791080:AG:A	donor_gain	1.0000
X:129791081:GG:G	donor_gain	1.0000

AlphaMissense

2488 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:129792424:T:A	V180D	1.000
X:129792640:T:A	I202N	1.000
X:129792640:T:G	I202S	1.000
X:129792672:T:A	W213R	1.000
X:129792672:T:C	W213R	1.000
X:129792678:G:C	G215R	1.000
X:129792679:G:A	G215D	1.000
X:129792706:T:C	F224S	1.000
X:129792708:A:G	K225E	1.000
X:129792709:A:T	K225I	1.000
X:129792710:A:C	K225N	1.000
X:129792710:A:T	K225N	1.000
X:129792711:T:C	F226L	1.000
X:129792712:T:C	F226S	1.000
X:129792713:C:A	F226L	1.000
X:129792713:C:G	F226L	1.000
X:129792814:T:C	L260P	1.000
X:129792817:T:C	L261P	1.000
X:129793005:T:C	L273P	1.000
X:129793017:G:T	G277V	1.000
X:129793019:T:G	Y278D	1.000
X:129793038:T:C	F284S	1.000
X:129793062:T:A	L292H	1.000
X:129793062:T:C	L292P	1.000
X:129793071:T:C	L295P	1.000
X:129793104:T:A	L306Q	1.000
X:129793104:T:C	L306P	1.000
X:129793107:T:C	L307P	1.000
X:129793113:C:A	A309D	1.000
X:129793732:A:C	D348A	1.000

dbSNP variants (sampled 300 via entrez): RS1000173066 (X:129791494 C>T), RS1000193463 (X:129778439 G>C), RS1000476432 (X:129794441 A>C), RS1000732400 (X:129785961 G>C,T), RS1000845886 (X:129794737 T>G), RS1000983863 (X:129793683 G>A), RS1001198020 (X:129780059 C>G), RS1001334320 (X:129788416 C>T), RS1001368333 (X:129784099 C>CT), RS1001506122 (X:129795430 C>T), RS1001844551 (X:129794155 C>A,T), RS1002198117 (X:129793233 C>G), RS1002411471 (X:129780449 T>C), RS1002637980 (X:129782775 G>A,C), RS1002762573 (X:129778681 TGAC>T)

Disease associations

OMIM: gene MIM:300441 | disease phenotypes: MIM:301082, MIM:300755

GenCC curated gene-disease

Disease	Classification	Inheritance
immunodeficiency 102	Definitive	X-linked

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
combined immunodeficiency, X-linked	Definitive	XL

Mondo (2): immunodeficiency 102 (MONDO:0024781), immunodeficiency disease (MONDO:0021094)

Orphanet (1): X-linked combined immunodeficiency due to SASH3 deficiency (Orphanet:653751)

HPO phenotypes

34 total (30 of 34 shown, HPO-id order):

HPO	Term
HP:0000821	Hypothyroidism
HP:0001419	X-linked recessive inheritance
HP:0001581	Recurrent skin infections
HP:0001882	Decreased total leukocyte count
HP:0001903	Anemia
HP:0001904	Autoimmune neutropenia
HP:0001973	Autoimmune thrombocytopenia
HP:0002110	Bronchiectasis
HP:0002240	Hepatomegaly
HP:0002257	Chronic rhinitis
HP:0002720	Decreased circulating IgA concentration
HP:0002783	Recurrent lower respiratory tract infections
HP:0002788	Recurrent upper respiratory tract infections
HP:0002850	Decreased circulating total IgM
HP:0003581	Adult onset
HP:0004315	Decreased circulating IgG concentration
HP:0010976	Decreased total B cell count
HP:0011108	Recurrent sinusitis
HP:0011109	Chronic sinusitis
HP:0011463	Childhood onset
HP:0011954	Nodular regenerative hyperplasia of liver
HP:0030783	Increased circulating interleukin 6 concentration
HP:0032154	Aphthous ulcer
HP:0032170	Severe varicella zoster infection
HP:0032218	Decreased CD4+ T cell proportion
HP:0034249	Severe influenza infection
HP:0040218	Reduced total natural killer cell count
HP:0100806	Sepsis
HP:0200043	Verrucae
HP:0410301	Partial absence of specific antibody response to unconjugated pneumococcus vaccine

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
triphenyl phosphate	affects expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
clothianidin	increases expression	1
(+)-JQ1 compound	decreases expression	1
Decitabine	increases expression	1
Air Pollutants, Occupational	affects expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Cadmium	decreases expression, increases abundance	1
Calcitriol	decreases expression	1
Diuron	decreases expression	1
Lipopolysaccharides	decreases expression, affects response to substance, increases expression, affects cotreatment	1
Nickel	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1
Valproic Acid	increases methylation	1
Vincristine	increases expression	1
Antirheumatic Agents	decreases expression	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00001542	PHASE4	COMPLETED	Fluconazole Prophylaxis of Thrush in AIDS
NCT00144157	PHASE4	COMPLETED	Open Label Study of NVP+CBV Treatment in Women Who Have Received sdNVP for the pMTCT of HIV
NCT00162643	PHASE4	UNKNOWN	PI Vs. NNRTI Based Therapy for HIV Advanced Disease
NCT00273988	PHASE4	COMPLETED	Pharmacokinetic Study of Interaction Between Nevirapine and Methadone in HIV-1 Infected, Opioid-dependent Adults
NCT00981318	PHASE4	TERMINATED	Pilot Assessment of Lopinavir/Ritonavir and Maraviroc
NCT01086878	PHASE4	COMPLETED	Safety of Cotrimoxazole in HIV- and HAART-exposed Infants
NCT01090102	PHASE4	COMPLETED	Mesalamine to Reduce T Cell Activation in HIV Infection
NCT01147042	PHASE4	TERMINATED	Biochemical Response to Interferon-Gamma in Subjects With Specific Gene Mutation in Chronic Granulomatous Disease
NCT01230580	PHASE4	UNKNOWN	Protease Inhibitor Monotherapy Versus Ongoing Triple-therapy in the Long Term Management of HIV Infection (PIVOT)
NCT01465958	PHASE4	COMPLETED	Pharmacokinetics, Safety, and Tolerability of Subcutaneous GAMUNEX-C in Pediatric Subjects With Primary Immunodeficiency
NCT02274662	PHASE4	COMPLETED	Expanded Access Protocol Thymus Transplantation
NCT02348177	PHASE4	COMPLETED	Pharmacokinetics of Lopinavir/Ritonavir Superboosting in Infants and Young Children Co-infected With HIV and TB
NCT02396979	PHASE4	COMPLETED	Intervention of HIV, Drug Use and the Criminal Justice System in Malaysia
NCT02490956	PHASE4	UNKNOWN	Diagnostic Immunization With Rabies Vaccine in Patients With PID
NCT02503293	PHASE4	COMPLETED	A Study to Compare Quality of Life and Satisfaction in Primary Immunodeficient Patients Treated With Subcutaneous Injections of Gammanorm® 165 mg/mL Administered With Two Different Delivery Devices: Injections Using Pump or Rapid Push
NCT02881437	PHASE4	COMPLETED	IgG Level in Primary Immunodeficiency Switching From Standard SCIG to Every Other Week HyQvia
NCT03033745	PHASE4	COMPLETED	Safety and Tolerability of Higher Infusion Parameters of IgPro20 (Hizentra) in Subjects With Primary Immunodeficiency (PID)
NCT03677557	PHASE4	UNKNOWN	Safety, Tolerability, Patient Satisfaction and Cost of 16.5% Subcutaneous Immunoglobulin (Cutaquig®) Treatment
NCT04192487	PHASE4	COMPLETED	Effects of Crofelemer on the Gut Microbiome in Healthy Volunteers and in HIV+ Patients With Non-Infectious Diarrhea
NCT04566692	PHASE4	COMPLETED	A Study to Evaluate IGSC 20% Biweekly Dosing in Treatment-Experienced Participants and Loading/Maintenance Dosing in Treatment-Naïve Participants With Primary Immunodeficiency
NCT05493969	PHASE4	NOT_YET_RECRUITING	Efficacy and Tolerability of DTG Plus 3TC in HIV Infected Adults With Virologically Suppression and TDF Toxicity
NCT06576024	PHASE4	COMPLETED	Immunogenicity and Safety of Inactivated Hepatitis A Vaccine in HIV-infected People
NCT06634641	PHASE4	RECRUITING	Clozapine-related Immunodeficiency in Parkinsons Disease
NCT07076446	PHASE4	ACTIVE_NOT_RECRUITING	An Open-label, Multicenter Study to Assess the Pharmacokinetics (PK), Safety, and Tolerability of Subcutaneous IgPro20 in Immunoglobulin (IG) Treatment-naïve Participants With Primary Immunodeficiency (PID)
NCT00000118	PHASE3	COMPLETED	Ganciclovir Implant Study for Cytomegalovirus Retinitis
NCT00000134	PHASE3	COMPLETED	Studies of the Ocular Complications of AIDS (SOCA)–Cytomegalovirus Retinitis Retreatment Trial (CRRT)
NCT00000590	PHASE3	COMPLETED	Anti-HIV Immunoglobulin (HIVIG) in Prevention of Maternal-Fetal HIV Transmission (Pediatric ACTG Protocol 185)
NCT00001267	PHASE3	COMPLETED	A Randomized Pilot Study for the Treatment of AIDS or AIDS Related Complex With an Alternating or Simultaneous Combination Regimen of AZT and 2’,3’-Dideoxyinosine
NCT00001646	PHASE3	COMPLETED	Voriconazole vs. Amphotericin B in the Treatment of Invasive Aspergillosis
NCT00144183	PHASE3	COMPLETED	A Study of Single Dose Nevirapine (NVP) Combined With Combivir® for the Prevention of Mother to Child Transmission (pMTCT) - Treatment Options Preservation Study (TOPS)
NCT00243568	PHASE3	WITHDRAWN	Vicriviroc, a CCR5 Inhibitor, Added to an Optimized Antiretroviral Therapy for Previously Treated HIV (VICTOR-E2) (Study P04285
NCT00278954	PHASE3	COMPLETED	Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases.
NCT00474370	PHASE3	COMPLETED	Vicriviroc in HIV-Treatment Experienced Subjects (Study P04889AM8)(COMPLETED)
NCT00478231	PHASE3	COMPLETED	Multicenter, Safety Study Of Maraviroc
NCT00523211	PHASE3	COMPLETED	Vicriviroc in HIV-Treatment Experienced Subjects (Study P04405AM5)
NCT00698334	PHASE3	COMPLETED	Efficacy of Thrice Weekly Directly Observed Treatment, Short-course (DOTS) in HIV-associated Tuberculosis
NCT00966160	PHASE3	COMPLETED	CD4 Cell Recovery in HIV-1 Patients Comparing 2 Treatment Regimes
NCT01363011	PHASE3	COMPLETED	Cobicistat-containing Highly Active Antiretroviral Regimens in HIV-1 Infected Patients With Mild to Moderate Renal Impairment
NCT01440569	PHASE3	COMPLETED	Safety and Efficacy of Cobicistat-boosted Darunavir in HIV Infected Adults
NCT01475838	PHASE3	COMPLETED	Study to Evaluate Switching From Regimens Consisting of a Ritonavir-boosted Protease Inhibitor Plus Emtricitabine/Tenofovir Fixed-Dose Combination to the Elvitegravir/Cobicistat/Emtricitabine/Tenofovir DF Single-Tablet Regimen in Virologically Suppressed, HIV-1 Infected Patients