MCID: ART009
MIFTS: 24

Artemis Deficiency malady

Immune diseases category

Aliases & Classifications for Artemis Deficiency

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Aliases & Descriptions for Artemis Deficiency:

Name: Artemis Deficiency 10


Classifications:



External Ids:

Disease Ontology10 DOID:0060006

Summaries for Artemis Deficiency

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Disease Ontology:10 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 due to dclre1c deficiency and 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 Gemtuzumab ozogamicin Pathway, Pharmacokinetics/Pharmacodynamics. Related mouse phenotypes are craniofacial and liver/biliary system.

Related Diseases for Artemis Deficiency

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Graphical network of diseases related to Artemis Deficiency:



Diseases related to artemis deficiency

Symptoms for Artemis Deficiency

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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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Animal Models for Artemis Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Artemis Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.4ABL1, EFNA5, FOXP3, LIG4, PRKDC
2MP:00053708.1ABL1, EPB41, FOXP3, LIG4, PRKDC, RAG1
3MP:00053918.1ABL1, FOXP3, H2AFX, PRKDC, RAG1
4MP:00053818.1ABL1, EFNA5, FOXP3, LIG4, PRKDC, RAG1
5MP:00053847.2ABL1, DCLRE1C, EFNA5, FOXP3, H2AFX, LIG4
6MP:00053876.7ABL1, DCLRE1C, EPB41, FOXP3, H2AFX, LIG4
7MP:00053976.5ABL1, DCLRE1C, EPB41, FOXP3, H2AFX, LIG4

Publications for Artemis Deficiency

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Articles related to Artemis Deficiency:

(show all 11)
idTitleAuthorsYear
1
Role of transgene regulation in ex vivo lentiviral correction of artemis deficiency. (25738323)
2015
2
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency. (25917813)
2015
3
Variable correction of Artemis deficiency by I-Sce1-meganuclease-assisted homologous recombination in murine hematopoietic stem cells. (24622732)
2014
4
The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation. (24230999)
2013
5
Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency. (22864628)
2012
6
Differences in sensitivity to DNA-damaging Agents between XRCC4- and Artemis-deficient human cells. (21785230)
2011
7
Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency. (19967552)
2010
8
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
9
Stable and functional lymphoid reconstitution in artemis-deficient mice following lentiviral artemis gene transfer into hematopoietic stem cells. (18560421)
2008
10
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
11
Damaging-agent sensitivity of Artemis-deficient cell lines. (15770702)
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
1nonhomologous end joining complexGO:007041910.5LIG4, PRKDC
2DNA-dependent protein kinase-DNA ligase 4 complexGO:000595810.5LIG4, PRKDC
3nucleusGO:00056346.5ABL1, DCLRE1C, EPB41, FOXP3, H2AFX, LIG4

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1pro-B cell differentiationGO:000232810.5LIG4, PRKDC
2immunoglobulin V(D)J recombinationGO:003315210.5LIG4, PRKDC
3T cell receptor V(D)J recombinationGO:003315310.4LIG4, PRKDC
4thymus developmentGO:004853810.3PRKDC, RAG1
5response to gamma radiationGO:001033210.3LIG4, PRKDC
6chromosome organizationGO:005127610.2DCLRE1C, LIG4
7T cell homeostasisGO:004302910.0FOXP3, RAG1
8DNA recombinationGO:000631010.0DCLRE1C, LIG4, RAG1
9T cell differentiation in thymusGO:00330779.9LIG4, PRKDC, RAG1
10V(D)J recombinationGO:00331519.8DCLRE1C, LIG4, PRKDC, RAG1
11regulation of actin cytoskeleton organizationGO:00329569.6ABL1, EFNA5
12double-strand break repair via nonhomologous end joiningGO:00063039.3DCLRE1C, H2AFX, LIG4, PRKDC
13response to ionizing radiationGO:00102129.1DCLRE1C, H2AFX, LIG4, PRKDC
14double-strand break repair via homologous recombinationGO:00007249.0ABL1, H2AFX, PRKDC
15double-strand break repairGO:00063028.2ABL1, DCLRE1C, H2AFX, LIG4, PRKDC
16DNA repairGO:00062817.9ABL1, DCLRE1C, H2AFX, LIG4, PRKDC

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

idNameGO IDScoreTop Affiliating Genes
1endonuclease activityGO:00045199.9DCLRE1C, RAG1

Sources for Artemis Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet