MCID: JNS001
MIFTS: 17

Janus Kinase-3 Deficiency

Categories: Immune diseases

Aliases & Classifications for Janus Kinase-3 Deficiency

MalaCards integrated aliases for Janus Kinase-3 Deficiency:

Name: Janus Kinase-3 Deficiency 12 15
Janus Kinase 3 13

Classifications:



External Ids:

Disease Ontology 12 DOID:0060008

Summaries for Janus Kinase-3 Deficiency

MalaCards based summary : Janus Kinase-3 Deficiency, also known as janus kinase 3, is related to leukemia and megakaryocytic leukemia. An important gene associated with Janus Kinase-3 Deficiency is JAK3 (Janus Kinase 3). Affiliated tissues include t cells, endothelial and myeloid.

Wikipedia : 76 Janus kinase 3 deficiency or JAK3 deficiency is a defect in the body\'s cytokine receptors and their... more...

Related Diseases for Janus Kinase-3 Deficiency

Diseases related to Janus Kinase-3 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 leukemia 10.1
2 megakaryocytic leukemia 9.9
3 mucositis 9.9
4 colorectal cancer 9.8
5 ige responsiveness, atopic 9.8
6 jacobsen syndrome 9.8
7 rheumatoid arthritis 9.8
8 dermatitis, atopic 9.8
9 leukemia, acute lymphoblastic 9.8
10 arthritis 9.8
11 familial adenomatous polyposis 9.8
12 lymphoma 9.8
13 colitis 9.8
14 lymphoblastic leukemia 9.8
15 dermatitis 9.8
16 endometriosis 9.8
17 chronic active epstein-barr virus infection 9.8
18 endotheliitis 9.8

Graphical network of the top 20 diseases related to Janus Kinase-3 Deficiency:



Diseases related to Janus Kinase-3 Deficiency

Symptoms & Phenotypes for Janus Kinase-3 Deficiency

Drugs & Therapeutics for Janus Kinase-3 Deficiency

Search Clinical Trials , NIH Clinical Center for Janus Kinase-3 Deficiency

Genetic Tests for Janus Kinase-3 Deficiency

Anatomical Context for Janus Kinase-3 Deficiency

MalaCards organs/tissues related to Janus Kinase-3 Deficiency:

41
T Cells, Endothelial, Myeloid, Smooth Muscle, Neutrophil, B Cells

Publications for Janus Kinase-3 Deficiency

Articles related to Janus Kinase-3 Deficiency:

(show all 42)
# Title Authors Year
1
Chronic active Epstein-Barr virus infection as the initial symptom in a Janus kinase 3 deficiency child: Case report and literature review. ( 29049190 )
2017
2
Janus Kinase 3, a Novel Regulator for Smooth Muscle Proliferation and Vascular Remodeling. ( 28473442 )
2017
3
Janus kinase 3 regulates adherens junctions and epithelial mesenchymal transition through I^-catenin. ( 28821617 )
2017
4
Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency. ( 27593409 )
2016
5
Insights into kinetic mechanism of Janus kinase 3 and its inhibition by tofacitinib. ( 27555492 )
2016
6
Janus kinase 3 deficiency caused by a homozygous synonymous exonic mutation that creates a dominant splice site. ( 27956217 )
2016
7
Distinct Acute Lymphoblastic Leukemia (ALL)-associated Janus Kinase 3 (JAK3) Mutants Exhibit Different Cytokine-Receptor Requirements and JAK Inhibitor Specificities. ( 26446793 )
2015
8
The Role of Janus Kinase 3 in the Regulation of Naa8_/Ka8_ ATPase under Energy Depletion. ( 26021261 )
2015
9
Role of Janus Kinase 3 in Predisposition to Obesity-associated Metabolic Syndrome. ( 26451047 )
2015
10
Adapter protein Shc regulates Janus kinase 3 phosphorylation. ( 24795043 )
2014
11
Activated janus kinase 3 expression not by activating mutations identified in natural killer/T-cell lymphoma. ( 24965108 )
2014
12
A Double-Blind, Placebo-Controlled, Randomized, 12-Week, Dose-Ranging Study of VX-509 (Decernotinib), an Oral Selective Janus Kinase 3 (JAK3) Inhibitor, as Monotherapy in Patients with Active Rheumatoid Arthritis. ( 25385260 )
2014
13
Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment. ( 23384681 )
2013
14
Role of Janus kinase 3 in mucosal differentiation and predisposition to colitis. ( 24045942 )
2013
15
Effect of Janus kinase 3 on the peptide transporters PEPT1 and PEPT2. ( 23934551 )
2013
16
Janus kinase 3: the controller and the controlled. ( 22130498 )
2012
17
Identification of molecular switch regulating interactions of Janus kinase 3 with cytoskeletal proteins. ( 23012362 )
2012
18
IL-8-induced neutrophil chemotaxis is mediated by Janus kinase 3 (JAK3). ( 21095188 )
2011
19
Janus kinase 3 is expressed in erythrocytes, phosphorylated upon energy depletion and involved in the regulation of suicidal erythrocyte death. ( 21691072 )
2011
20
Cell invasion of highly metastatic MTLn3 cancer cells is dependent on phospholipase D2 (PLD2) and Janus kinase 3 (JAK3). ( 21414324 )
2011
21
Description of a novel Janus kinase 3 P132A mutation in acute megakaryoblastic leukemia and demonstration of previously reported Janus kinase 3 mutations in normal subjects. ( 21599579 )
2011
22
Janus kinase 3 missense mutation in a child with Jacobsen syndrome. ( 20568388 )
2010
23
Janus kinase 3 inhibitor WHI-P154 in macrophages activated by bacterial endotoxin: differential effects on the expression of iNOS, COX-2 and TNF-alpha. ( 18068105 )
2008
24
Janus kinase 3 regulates interleukin 2-induced mucosal wound repair through tyrosine phosphorylation of villin. ( 17537734 )
2007
25
Targeting mast cells in endometriosis with janus kinase 3 inhibitor, JANEX-1. ( 17631002 )
2007
26
Effect of targeting janus kinase 3 on the development of intestinal tumors in the adenomatous polyposis coli(min) mouse model of familial adenomatous polyposis. ( 17688077 )
2007
27
Interplay between epidermal growth factor receptor and Janus kinase 3 regulates polychlorinated biphenyl-induced matrix metalloproteinase-3 expression and transendothelial migration of tumor cells. ( 16778083 )
2006
28
Differential expression of Janus kinase 3 (JAK3), matrix metalloproteinase 13 (MMP13), heat shock protein 60 (HSP60), and mouse double minute 2 (MDM2) in human colorectal cancer progression using human cancer cDNA microarrays. ( 16308103 )
2005
29
Janus kinase 3: a novel target for selective transplant immunosupression. ( 15584866 )
2004
30
Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation. ( 14615376 )
2004
31
Janus kinase 3 down-regulates lipopolysaccharide-induced IL-1 beta-converting enzyme activation by autocrine IL-10. ( 15067075 )
2004
32
Targeting Janus kinase 3 in the treatment of leukemia and inflammatory diseases. ( 15179321 )
2004
33
Therapeutic potential of Janus kinase 3 (JAK3) inhibitors. ( 15180539 )
2004
34
Prevention of organ allograft rejection by a specific Janus kinase 3 inhibitor. ( 14593182 )
2003
35
Characterization and analysis of the proximal Janus kinase 3 promoter. ( 12794134 )
2003
36
Suppression of early T-cell-receptor-triggered cellular activation by the Janus kinase 3 inhibitor WHI-P-154. ( 12811247 )
2003
37
Prevention of CD40-triggered dendritic cell maturation and induction of T-cell hyporeactivity by targeting of Janus kinase 3. ( 14525593 )
2003
38
Targeting Janus kinase 3 in mast cells prevents immediate hypersensitivity reactions and anaphylaxis. ( 10480916 )
1999
39
Structure-based design of specific inhibitors of Janus kinase 3 as apoptosis-inducing antileukemic agents. ( 10389946 )
1999
40
IgE hyperproduction through enhanced tyrosine phosphorylation of Janus kinase 3 in NC/Nga mice, a model for human atopic dermatitis. ( 9916733 )
1999
41
Expression of Janus kinase 3 in human endothelial and other non- lymphoid and non-myeloid cells. ( 8662778 )
1996
42
Interleukin 4 activates a signal transducer and activator of transcription (Stat) protein which interacts with an interferon-gamma activation site-like sequence upstream of the I epsilon exon in a human B cell line. Evidence for the involvement of Janus kinase 3 and interleukin-4 Stat. ( 7635985 )
1995

Variations for Janus Kinase-3 Deficiency

Expression for Janus Kinase-3 Deficiency

Search GEO for disease gene expression data for Janus Kinase-3 Deficiency.

Pathways for Janus Kinase-3 Deficiency

GO Terms for Janus Kinase-3 Deficiency

Sources for Janus Kinase-3 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
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28 GO
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31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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