MCID: ART009
MIFTS: 28

Artemis Deficiency

Categories: Immune diseases

Aliases & Classifications for Artemis Deficiency

MalaCards integrated aliases for Artemis Deficiency:

Name: Artemis Deficiency 12 15

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

Wikipedia : 76 Artemis is a protein that in humans is encoded by the DCLRE1C (DNA cross-link repair 1C)... more...

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.35 ABL1 DCLRE1C H2AFX LIG4 PRKDC
2 Increased viability with tamoxifen GR00120-A 8.62 ABL1 PRKDC

MGI Mouse Phenotypes related to Artemis Deficiency:

46
# 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 ABL1 DCLRE1C EPB41 FOXP3 H2AFX LIG4
3 homeostasis/metabolism MP:0005376 10.11 TMEM173 ABL1 EFNA5 EPB41 FOXP3 H2AFX
4 endocrine/exocrine gland MP:0005379 10.09 ABL1 DCLRE1C EFNA5 FOXP3 H2AFX LIG4
5 immune system MP:0005387 10.06 DCLRE1C EPB41 FOXP3 H2AFX LIG4 PRKDC
6 digestive/alimentary MP:0005381 10 ABL1 EFNA5 FOXP3 LIG4 PRKDC RAG1
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 H2AFX PRKDC RAG1 STAT1 ABL1 EFNA5

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 15)
# Title Authors Year
1
Type I IFN-related NETosis in ataxia telangiectasia and Artemis deficiency. ( 29155101 )
2017
2
Lentivirus Mediated Correction of Artemis-deficient Severe Combined Immunodeficiency. ( 27611239 )
2016
3
Epidermodysplasia verruciformis as a manifestation of ARTEMIS deficiency in a young adult. ( 27568080 )
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
SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID. ( 24144642 )
2014
7
Variable correction of Artemis deficiency by I-Sce1-meganuclease-assisted homologous recombination in murine hematopoietic stem cells. ( 24622732 )
2014
8
The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation. ( 24230999 )
2013
9
Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency. ( 22864628 )
2012
10
Differences in sensitivity to DNA-damaging Agents between XRCC4- and Artemis-deficient human cells. ( 21785230 )
2011
11
Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency. ( 19967552 )
2010
12
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
13
Stable and functional lymphoid reconstitution in artemis-deficient mice following lentiviral artemis gene transfer into hematopoietic stem cells. ( 18560421 )
2008
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
15
Damaging-agent sensitivity of Artemis-deficient cell lines. ( 15770702 )
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 nucleoplasm GO:0005654 9.81 ABL1 DCLRE1C FOXP3 H2AFX LIG4 PRKDC
2 protein-containing complex GO:0032991 9.65 ABL1 EPB41 FOXP3 PRKDC STAT1
3 nuclear chromosome, telomeric region GO:0000784 9.5 DCLRE1C LIG4 PRKDC
4 DNA-dependent protein kinase-DNA ligase 4 complex GO:0005958 8.96 LIG4 PRKDC
5 nonhomologous end joining complex GO:0070419 8.8 DCLRE1C LIG4 PRKDC
6 nucleus GO:0005634 10.07 ABL1 DCLRE1C EPB41 FOXP3 H2AFX LIG4

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.92 DCLRE1C PRKDC SH2D1A TMEM173
2 innate immune response GO:0045087 9.91 ABL1 PRKDC SH2D1A TMEM173
3 cellular response to DNA damage stimulus GO:0006974 9.89 ABL1 DCLRE1C H2AFX LIG4 PRKDC
4 DNA repair GO:0006281 9.8 ABL1 DCLRE1C H2AFX LIG4 PRKDC
5 thymus development GO:0048538 9.63 ABL1 PRKDC RAG1
6 spleen development GO:0048536 9.62 ABL1 PRKDC
7 double-strand break repair via nonhomologous end joining GO:0006303 9.62 DCLRE1C H2AFX LIG4 PRKDC
8 endothelial cell migration GO:0043542 9.61 ABL1 STAT1
9 response to gamma radiation GO:0010332 9.6 LIG4 PRKDC
10 T cell homeostasis GO:0043029 9.59 FOXP3 RAG1
11 chromosome organization GO:0051276 9.58 DCLRE1C LIG4
12 positive regulation of defense response to virus by host GO:0002230 9.58 STAT1 TMEM173
13 activation of innate immune response GO:0002218 9.57 PRKDC TMEM173
14 negative regulation of cellular senescence GO:2000773 9.56 ABL1 PRKDC
15 double-strand break repair GO:0006302 9.56 DCLRE1C H2AFX LIG4 PRKDC
16 cellular response to interferon-beta GO:0035458 9.55 STAT1 TMEM173
17 regulation of T cell differentiation GO:0045580 9.54 ABL1 RAG1
18 T cell differentiation in thymus GO:0033077 9.54 LIG4 PRKDC RAG1
19 collateral sprouting GO:0048668 9.52 ABL1 EFNA5
20 T cell receptor V(D)J recombination GO:0033153 9.51 LIG4 PRKDC
21 pro-B cell differentiation GO:0002328 9.48 LIG4 PRKDC
22 response to ionizing radiation GO:0010212 9.46 DCLRE1C H2AFX LIG4 PRKDC
23 immunoglobulin V(D)J recombination GO:0033152 9.43 LIG4 PRKDC
24 DNA recombination GO:0006310 9.35 DCLRE1C H2AFX LIG4 PRKDC RAG1
25 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 homodimerization activity GO:0042803 9.55 FOXP3 RAG1 SEPT4 STAT1 TMEM173
4 protein binding GO:0005515 9.44 ABL1 DCLRE1C EFNA5 EPB41 FOXP3 H2AFX
5 histone acetyltransferase binding GO:0035035 9.37 FOXP3 STAT1
6 ephrin receptor binding GO:0046875 9.32 ABL1 EFNA5
7 histone binding GO:0042393 9.13 H2AFX RAG1 STAT1

Sources for Artemis Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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