MCID: ART009
MIFTS: 28

Artemis Deficiency

Categories: Immune diseases

Aliases & Classifications for Artemis Deficiency

MalaCards integrated aliases for Artemis Deficiency:

Name: Artemis Deficiency 12 14

Classifications:



External Ids:

Disease Ontology 12 DOID:0060006

Summaries for Artemis Deficiency

Disease Ontology : 12 A severe combined immunodeficiency that is caused when the DCLREI1, DNA cross-link repair 1C gene contains mutations resulting in the inability to repair DNA.

MalaCards based summary : Artemis Deficiency is related to severe combined immunodeficiency with sensitivity to ionizing radiation and ataxia-telangiectasia. An important gene associated with Artemis Deficiency is DCLRE1C (DNA Cross-Link Repair 1C), and among its related pathways/superpathways are DNA Double-Strand Break Repair and DNA Damage. Related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and Increased viability with tamoxifen

Related Diseases for Artemis Deficiency

Graphical network of the top 20 diseases related to Artemis Deficiency:



Diseases related to Artemis Deficiency

Symptoms & Phenotypes for Artemis Deficiency

GenomeRNAi Phenotypes related to Artemis Deficiency according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.35 LIG4 PRKDC ABL1 DCLRE1C H2AFX
2 Increased viability with tamoxifen GR00120-A 8.62 ABL1 PRKDC

MGI Mouse Phenotypes related to Artemis Deficiency:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.18 ABL1 DCLRE1C EFNA5 FOXP3 H2AFX LIG4
2 hematopoietic system MP:0005397 10.14 FOXP3 H2AFX LIG4 PRKDC RAG1 SH2D1A
3 homeostasis/metabolism MP:0005376 10.11 EFNA5 EPB41 FOXP3 H2AFX LIG4 PRKDC
4 endocrine/exocrine gland MP:0005379 10.09 ABL1 DCLRE1C EFNA5 FOXP3 H2AFX LIG4
5 immune system MP:0005387 10.06 ABL1 DCLRE1C EPB41 FOXP3 H2AFX LIG4
6 digestive/alimentary MP:0005381 10 EFNA5 FOXP3 LIG4 PRKDC RAG1 STAT1
7 mortality/aging MP:0010768 9.85 ABL1 EFNA5 EPB41 FOXP3 H2AFX LIG4
8 liver/biliary system MP:0005370 9.8 ABL1 EPB41 FOXP3 LIG4 PRKDC RAG1
9 neoplasm MP:0002006 9.35 H2AFX LIG4 PRKDC RAG1 STAT1
10 vision/eye MP:0005391 9.17 ABL1 EFNA5 FOXP3 H2AFX PRKDC RAG1

Drugs & Therapeutics for Artemis Deficiency

Search Clinical Trials , NIH Clinical Center for Artemis Deficiency

Genetic Tests for Artemis Deficiency

Anatomical Context for Artemis Deficiency

Publications for Artemis Deficiency

Articles related to Artemis Deficiency:

(show all 14)
# Title Authors Year
1
Type I IFN-related NETosis in ataxia telangiectasia and Artemis deficiency. ( 29155101 )
2017
2
Epidermodysplasia verruciformis as a manifestation of ARTEMIS deficiency in a young adult. ( 27568080 )
2016
3
Lentivirus Mediated Correction of Artemis-deficient Severe Combined Immunodeficiency. ( 27611239 )
2016
4
Role of transgene regulation in ex vivo lentiviral correction of artemis deficiency. ( 25738323 )
2015
5
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency. ( 25917813 )
2015
6
Variable correction of Artemis deficiency by I-Sce1-meganuclease-assisted homologous recombination in murine hematopoietic stem cells. ( 24622732 )
2014
7
The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation. ( 24230999 )
2013
8
Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency. ( 22864628 )
2012
9
Differences in sensitivity to DNA-damaging Agents between XRCC4- and Artemis-deficient human cells. ( 21785230 )
2011
10
Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency. ( 19967552 )
2010
11
A non-leaky Artemis-deficient mouse that accurately models the human severe combined immune deficiency phenotype, including resistance to hematopoietic stem cell transplantation. ( 19135937 )
2009
12
Stable and functional lymphoid reconstitution in artemis-deficient mice following lentiviral artemis gene transfer into hematopoietic stem cells. ( 18560421 )
2008
13
Damaging-agent sensitivity of Artemis-deficient cell lines. ( 15770702 )
2005
14
Artemis deficiency confers a DNA double-strand break repair defect and Artemis phosphorylation status is altered by DNA damage and cell cycle progression. ( 15811628 )
2005

Variations for Artemis Deficiency

Expression for Artemis Deficiency

Search GEO for disease gene expression data for Artemis Deficiency.

Pathways for Artemis Deficiency

GO Terms for Artemis Deficiency

Cellular components related to Artemis Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein complex GO:0043234 9.65 ABL1 EPB41 FOXP3 PRKDC STAT1
2 nucleoplasm GO:0005654 9.65 ABL1 DCLRE1C FOXP3 H2AFX LIG4 PRKDC
3 nuclear chromosome, telomeric region GO:0000784 9.5 DCLRE1C LIG4 PRKDC
4 DNA-dependent protein kinase-DNA ligase 4 complex GO:0005958 9.16 LIG4 PRKDC
5 nonhomologous end joining complex GO:0070419 8.8 DCLRE1C LIG4 PRKDC

Biological processes related to Artemis Deficiency according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.93 ABL1 EFNA5 SEPT4 STAT1 TMEM173
2 innate immune response GO:0045087 9.92 ABL1 PRKDC SH2D1A TMEM173
3 immune system process GO:0002376 9.91 DCLRE1C PRKDC SH2D1A TMEM173
4 cellular response to DNA damage stimulus GO:0006974 9.89 ABL1 DCLRE1C H2AFX LIG4 PRKDC
5 adaptive immune response GO:0002250 9.81 DCLRE1C RAG1 SH2D1A
6 DNA repair GO:0006281 9.8 ABL1 DCLRE1C H2AFX LIG4 PRKDC
7 spleen development GO:0048536 9.63 ABL1 PRKDC
8 endothelial cell migration GO:0043542 9.62 ABL1 STAT1
9 double-strand break repair via nonhomologous end joining GO:0006303 9.62 DCLRE1C H2AFX LIG4 PRKDC
10 response to gamma radiation GO:0010332 9.61 LIG4 PRKDC
11 thymus development GO:0048538 9.61 ABL1 PRKDC RAG1
12 T cell homeostasis GO:0043029 9.6 FOXP3 RAG1
13 chromosome organization GO:0051276 9.59 DCLRE1C LIG4
14 positive regulation of defense response to virus by host GO:0002230 9.58 STAT1 TMEM173
15 activation of innate immune response GO:0002218 9.58 PRKDC TMEM173
16 negative regulation of cellular senescence GO:2000773 9.57 ABL1 PRKDC
17 cellular response to interferon-beta GO:0035458 9.56 STAT1 TMEM173
18 double-strand break repair GO:0006302 9.56 DCLRE1C H2AFX LIG4 PRKDC
19 regulation of T cell differentiation GO:0045580 9.55 ABL1 RAG1
20 T cell differentiation in thymus GO:0033077 9.54 LIG4 PRKDC RAG1
21 collateral sprouting GO:0048668 9.52 ABL1 EFNA5
22 T cell receptor V(D)J recombination GO:0033153 9.51 LIG4 PRKDC
23 pro-B cell differentiation GO:0002328 9.48 LIG4 PRKDC
24 immunoglobulin V(D)J recombination GO:0033152 9.46 LIG4 PRKDC
25 response to ionizing radiation GO:0010212 9.46 DCLRE1C H2AFX LIG4 PRKDC
26 DNA recombination GO:0006310 9.35 DCLRE1C H2AFX LIG4 PRKDC RAG1
27 V(D)J recombination GO:0033151 8.92 DCLRE1C LIG4 PRKDC RAG1

Molecular functions related to Artemis Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.8 ABL1 FOXP3 H2AFX LIG4 PRKDC RAG1
2 protein C-terminus binding GO:0008022 9.58 ABL1 EPB41 LIG4
3 protein binding GO:0005515 9.44 ABL1 DCLRE1C EFNA5 EPB41 FOXP3 H2AFX
4 ephrin receptor binding GO:0046875 9.37 ABL1 EFNA5
5 protein homodimerization activity GO:0042803 9.35 FOXP3 RAG1 SEPT4 STAT1 TMEM173
6 histone binding GO:0042393 9.33 H2AFX RAG1 STAT1
7 histone acetyltransferase binding GO:0035035 9.32 FOXP3 STAT1

Sources for Artemis Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....