MCID: ART009
MIFTS: 28

Artemis Deficiency malady

Summaries for Artemis Deficiency

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8Disease Ontology, 32MalaCards
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Disease Ontology:8 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: Artemis Deficiency is related to severe combined immunodeficiency, athabascan type and inflammatory bowel disease. An important gene associated with Artemis Deficiency is DCLRE1C (DNA cross-link repair 1C), and among its related pathways are Nucleotide Excision Repair and Chks in Checkpoint Regulation. The compounds caffeine and probenecid have been mentioned in the context of this disorder. Affiliated tissues include b cells, and related mouse phenotypes are skeleton and endocrine/exocrine gland.

Aliases & Classifications for Artemis Deficiency

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8Disease Ontology
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Aliases & Descriptions:

artemis deficiency 8


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Disease Ontology8 DOID:0060006

Related Diseases for Artemis Deficiency

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Artemis Deficiency:



Diseases related to artemis deficiency

Clinical Features for Artemis Deficiency

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Drugs & Therapeutics for Artemis Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Artemis Deficiency

Drug clinical trials:

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Search NIH Clinical Center for Artemis Deficiency

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Genetic Tests for Artemis Deficiency

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Anatomical Context for Artemis Deficiency

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32MalaCards
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MalaCards organs/tissues related to Artemis Deficiency:

32
B cells

Animal Models for Artemis Deficiency or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Artemis Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053909.7PRKDC
2MP:00053798.9RAG2, RAG1, XRCC4
3MP:00053828.5XRCC4, PRKDC, RAG2
4MP:00053708.2RAG2, RAG1, PRKDC
5MP:00020068.2XRCC4, PRKDC, RAG1, RAG2
6MP:00107718.0RAG2, RAG1, PRKDC, XRCC4
7MP:00036318.0RAG2, RAG1, PRKDC, XRCC4
8MP:00053977.8RAG2, RAG1, DCLRE1C, PRKDC, XRCC4
9MP:00053877.7RAG2, RAG1, DCLRE1C, PRKDC, XRCC4
10MP:00053847.7XRCC4, PRKDC, DCLRE1C, RAG1, RAG2

Publications for Artemis Deficiency

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50PubMed
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Articles related to Artemis Deficiency:

idTitleAuthorsYear
1
Novel spontaneous deletion of artemis exons 10 and 11 in mice leads to T- and B-cell deficiency. (24069355)
2013
2
Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency. (22864628)
2012
3
Restoration of G1 chemo/radioresistance and double-strand-break repair proficiency by wild-type but not endonuclease-deficient Artemis. (21531702)
2011
4
Differences in sensitivity to DNA-damaging Agents between XRCC4- and Artemis-deficient human cells. (21785230)
2011
5
Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency. (19967552)
2010
6
Stable and functional lymphoid reconstitution in artemis-deficient mice following lentiviral artemis gene transfer into hematopoietic stem cells. (18560421)
2008
7
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
8
Damaging-agent sensitivity of Artemis-deficient cell lines. (15770702)
2005
9
Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. (11336668)
2001

Genetic Variations for Artemis Deficiency

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Expression for genes affiliated with Artemis Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Artemis Deficiency

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Pathways for genes affiliated with Artemis Deficiency

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Sources:
53Reactome, 51QIAGEN, 29KEGG, 12EMD Millipore, 37NCBI BioSystems Database
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Compounds for genes affiliated with Artemis Deficiency

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Sources:
44Novoseek, 49PharmGKB, 28IUPHAR, 2BitterDB, 11DrugBank, 24HMDB, 59Tocris Bioscience
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Compounds related to Artemis Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1caffeine44 49 28 2 11 2414.3RAG2, RAG1
2probenecid44 28 59 49 1113.2RAG2, RAG1
3cytidine44 11 2411.0RAG2, RAG1

GO Terms for genes affiliated with Artemis Deficiency

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16Gene Ontology
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Cellular components related to Artemis Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nonhomologous end joining complexGO:0704199.1PRKDC, XRCC4
2DNA-dependent protein kinase-DNA ligase 4 complexGO:0059588.8PRKDC, XRCC4

Biological processes related to Artemis Deficiency according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1pre-B cell allelic exclusionGO:0023319.6RAG1, RAG2
2V(D)J recombinationGO:0331519.4RAG2, RAG1
3DNA recombinationGO:0063109.4DCLRE1C, RAG1
4T cell lineage commitmentGO:0023609.3RAG2, PRKDC
5pro-B cell differentiationGO:0023289.3XRCC4, PRKDC
6B cell lineage commitmentGO:0023269.3PRKDC, RAG2
7immunoglobulin V(D)J recombinationGO:0331529.2XRCC4, PRKDC
8double-strand break repair via nonhomologous end joiningGO:0063039.1XRCC4, PRKDC
9B cell differentiationGO:0301839.1RAG1, DCLRE1C, RAG2
10response to gamma radiationGO:0103329.0XRCC4, PRKDC
11double-strand break repairGO:0063028.9XRCC4, PRKDC, DCLRE1C
12telomere maintenanceGO:0007238.9DCLRE1C, PRKDC
13T cell differentiation in thymusGO:0330778.3XRCC4, PRKDC, RAG2, RAG1

Molecular functions related to Artemis Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endonuclease activityGO:0045199.0RAG2, RAG1
2DNA bindingGO:0036778.0RAG2, RAG1, PRKDC, XRCC4

Products for genes affiliated with Artemis Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Artemis Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet