MCID: ART009
MIFTS: 29

Artemis Deficiency malady

Category: Immune diseases

Aliases & Classifications for Artemis Deficiency

About this section

Aliases & Descriptions for Artemis Deficiency:

Name: Artemis Deficiency 10 12

Classifications:



External Ids:

Disease Ontology10 DOID:0060006

Summaries for Artemis Deficiency

About this section
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 omenn syndrome. 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. Affiliated tissues include thyroid, bone and liver, and related mouse phenotypes are endocrine/exocrine gland and liver/biliary system.

Related Diseases for Artemis Deficiency

About this section

Graphical network of diseases related to Artemis Deficiency:



Diseases related to artemis deficiency

Symptoms for Artemis Deficiency

About this section

Drugs & Therapeutics for Artemis Deficiency

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Intrauterine Insemination In HIV-Discordant CouplesTerminatedNCT01173276

Search NIH Clinical Center for Artemis Deficiency

Genetic Tests for Artemis Deficiency

About this section

Anatomical Context for Artemis Deficiency

About this section

MalaCards organs/tissues related to Artemis Deficiency:

33
Thyroid, Bone, Liver, Salivary gland, Nk cells, B cells, T cells

Animal Models for Artemis Deficiency or affiliated genes

About this section

MGI Mouse Phenotypes related to Artemis Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.5ABL1, DCLRE1C, FOXP3, LIG4, PRKDC, RAG1
2MP:00053708.4ABL1, EPB41, FOXP3, LIG4, PRKDC, RAG1
3MP:00053818.2ABL1, EFNA5, FOXP3, LIG4, PRKDC, RAG1
4MP:00053977.4ABL1, DCLRE1C, EPB41, FOXP3, LIG4, PRKDC
5MP:00053767.2ABL1, EFNA5, EPB41, FOXP3, LIG4, PRKDC
6MP:00053877.1ABL1, DCLRE1C, EPB41, FOXP3, LIG4, PRKDC
7MP:00053847.0ABL1, DCLRE1C, EFNA5, FOXP3, LIG4, PRKDC

Publications for Artemis Deficiency

About this section

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

About this section

Expression for genes affiliated with Artemis Deficiency

About this section
Search GEO for disease gene expression data for Artemis Deficiency.

Pathways for genes affiliated with Artemis Deficiency

About this section

GO Terms for genes affiliated with Artemis Deficiency

About this section

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

idNameGO IDScoreTop Affiliating Genes
1nonhomologous end joining complexGO:00704199.5DCLRE1C, LIG4, PRKDC

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1pro-B cell differentiationGO:000232810.4LIG4, PRKDC
2immunoglobulin V(D)J recombinationGO:003315210.4LIG4, PRKDC
3B cell differentiationGO:003018310.4DCLRE1C, RAG1
4response to ionizing radiationGO:001021210.0LIG4, PRKDC
5DNA recombinationGO:000631010.0DCLRE1C, LIG4
6V(D)J recombinationGO:003315110.0DCLRE1C, LIG4, PRKDC
7response to gamma radiationGO:001033210.0LIG4, PRKDC
8thymus developmentGO:00485389.9ABL1, PRKDC
9negative regulation of cellular senescenceGO:20007739.9ABL1, PRKDC
10T cell homeostasisGO:00430299.8FOXP3, RAG1
11positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.8ABL1, EFNA5
12double-strand break repairGO:00063029.7ABL1, DCLRE1C, PRKDC
13adaptive immune responseGO:00022509.6DCLRE1C, RAG1, SH2D1A
14regulation of actin cytoskeleton organizationGO:00329569.6ABL1, EFNA5
15spleen developmentGO:00485369.4ABL1, PRKDC
16DNA repairGO:00062819.3ABL1, LIG4, PRKDC

Sources for Artemis Deficiency

About this section
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