MCID: ART009
MIFTS: 26

Artemis Deficiency malady

Category: Immune diseases

Aliases & Classifications for Artemis Deficiency

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Aliases & Descriptions for Artemis Deficiency:

Name: Artemis Deficiency 11 13

Classifications:



External Ids:

Disease Ontology11 DOID:0060006

Summaries for Artemis Deficiency

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Disease Ontology:11 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, athabascan type. An important gene associated with Artemis Deficiency is DCLRE1C (DNA Cross-Link Repair 1C), and among its related pathways are Primary immunodeficiency and DNA damage_NHEJ mechanisms of DSBs repair. Related mouse phenotypes are Increased viability with tamoxifen and Increased viability with MLN4924 (a NAE inhibitor).

Related Diseases for Artemis Deficiency

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Graphical network of diseases related to Artemis Deficiency:



Diseases related to artemis deficiency

Symptoms & Phenotypes for Artemis Deficiency

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00120-A10.4ABL1, PRKDC
2GR00250-A-39.2ABL1, DCLRE1C, H2AFX, LIG4, PRKDC

MGI Mouse Phenotypes related to Artemis Deficiency according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.0ABL1, EFNA5, FOXP3, LIG4, PRKDC, RAG1
2MP:00053709.0ABL1, EPB41, FOXP3, LIG4, PRKDC, RAG1
3MP:00053798.5ABL1, DCLRE1C, FOXP3, H2AFX, LIG4, PRKDC
4MP:00053977.8ABL1, DCLRE1C, EPB41, FOXP3, H2AFX, LIG4
5MP:00053877.8ABL1, DCLRE1C, EPB41, FOXP3, H2AFX, LIG4
6MP:00053767.6ABL1, EFNA5, EPB41, FOXP3, H2AFX, LIG4
7MP:00053897.6EFNA5, FOXP3, H2AFX, LIG4, PRKDC, SEPT4
8MP:00053847.3ABL1, DCLRE1C, EFNA5, FOXP3, H2AFX, LIG4

Drugs & Therapeutics for Artemis Deficiency

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Intrauterine Insemination In HIV-Discordant CouplesTerminatedNCT01173276

Search NIH Clinical Center for Artemis Deficiency

Genetic Tests for Artemis Deficiency

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Anatomical Context for Artemis Deficiency

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Publications for Artemis Deficiency

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Articles related to Artemis Deficiency:

(show all 13)
idTitleAuthorsYear
1
Epidermodysplasia verruciformis as a manifestation of ARTEMIS deficiency in a young adult. (27568080)
2016
2
Lentivirus Mediated Correction of Artemis-deficient Severe Combined Immunodeficiency. (27611239)
2016
3
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency. (25917813)
2015
4
Role of transgene regulation in ex vivo lentiviral correction of artemis deficiency. (25738323)
2015
5
Variable correction of Artemis deficiency by I-Sce1-meganuclease-assisted homologous recombination in murine hematopoietic stem cells. (24622732)
2014
6
The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation. (24230999)
2013
7
Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency. (22864628)
2012
8
Differences in sensitivity to DNA-damaging Agents between XRCC4- and Artemis-deficient human cells. (21785230)
2011
9
Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency. (19967552)
2010
10
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
11
Stable and functional lymphoid reconstitution in artemis-deficient mice following lentiviral artemis gene transfer into hematopoietic stem cells. (18560421)
2008
12
Damaging-agent sensitivity of Artemis-deficient cell lines. (15770702)
2005
13
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

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Expression for genes affiliated with Artemis Deficiency

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Search GEO for disease gene expression data for Artemis Deficiency.

Pathways for genes affiliated with Artemis Deficiency

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GO Terms for genes affiliated with Artemis Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1DNA-dependent protein kinase-DNA ligase 4 complexGO:000595810.6LIG4, PRKDC
2nonhomologous end joining complexGO:007041910.4DCLRE1C, LIG4, PRKDC
3nuclear chromosome, telomeric regionGO:000078410.4DCLRE1C, LIG4, PRKDC
4protein complexGO:00432348.9ABL1, EPB41, FOXP3, PRKDC
5nucleoplasmGO:00056547.5ABL1, DCLRE1C, FOXP3, H2AFX, LIG4, PRKDC

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1chromosome organizationGO:005127610.6DCLRE1C, LIG4
2immunoglobulin V(D)J recombinationGO:003315210.5LIG4, PRKDC
3pro-B cell differentiationGO:000232810.5LIG4, PRKDC
4response to gamma radiationGO:001033210.5LIG4, PRKDC
5T cell receptor V(D)J recombinationGO:003315310.4LIG4, PRKDC
6telomere maintenanceGO:000072310.4DCLRE1C, PRKDC
7intrinsic apoptotic signaling pathway in response to DNA damageGO:000863010.3ABL1, PRKDC
8negative regulation of cellular senescenceGO:200077310.3ABL1, PRKDC
9adaptive immune responseGO:000225010.3DCLRE1C, RAG1, SH2D1A
10T cell homeostasisGO:004302910.2FOXP3, RAG1
11collateral sproutingGO:004866810.2ABL1, EFNA5
12spleen developmentGO:004853610.2ABL1, PRKDC
13T cell differentiation in thymusGO:003307710.1LIG4, PRKDC, RAG1
14thymus developmentGO:00485389.6ABL1, PRKDC, RAG1
15double-strand break repairGO:00063029.6DCLRE1C, H2AFX, LIG4, PRKDC
16double-strand break repair via nonhomologous end joiningGO:00063039.6DCLRE1C, H2AFX, LIG4, PRKDC
17response to ionizing radiationGO:00102129.6DCLRE1C, H2AFX, LIG4, PRKDC
18DNA recombinationGO:00063109.4DCLRE1C, H2AFX, LIG4, PRKDC, RAG1
19V(D)J recombinationGO:00331519.3DCLRE1C, LIG4, PRKDC, RAG1
20cellular response to DNA damage stimulusGO:00069749.2ABL1, DCLRE1C, H2AFX, LIG4, PRKDC
21DNA repairGO:00062819.1ABL1, DCLRE1C, H2AFX, LIG4, PRKDC

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

idNameGO IDScoreTop Affiliating Genes
1ephrin receptor bindingGO:004687510.1ABL1, EFNA5
2protein C-terminus bindingGO:00080229.3ABL1, EPB41, LIG4

Sources for Artemis Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet