MCID: CMB022
MIFTS: 18

Combined Cellular and Humoral Immune Defects with Granulomas malady

Skin, Blood, Immune categories

Summaries for Combined Cellular and Humoral Immune Defects with Granulomas

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47OMIM, 33MalaCards
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MalaCards: Combined Cellular and Humoral Immune Defects with Granulomas, also known as combined immunodeficiency due to rag 1/2 deficiency, is related to ataxia telangiectasia and severe combined immunodeficiency, b cell-negative. An important gene associated with Combined Cellular and Humoral Immune Defects with Granulomas is RAG2 (recombination activating gene 2), and among its related pathways is Primary immunodeficiency. The compounds probenecid and zinc have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotype tumorigenesis.

Description from OMIM:47 233650

Aliases & Classifications for Combined Cellular and Humoral Immune Defects with Granulomas

Sources:
47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin, Blood, Immune


Aliases & Descriptions:

combined cellular and humoral immune defects with granulomas 47
combined immunodeficiency due to rag 1/2 deficiency 49
combined immunodeficiency with skin granulomas 49
cid due to rag 1/2 deficiency 49


External Ids:

OMIM47 233650
ICD10 via Orphanet26 D81.1

Related Diseases for Combined Cellular and Humoral Immune Defects with Granulomas

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17GeneCards, 18GeneDecks
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Diseases related to Combined Cellular and Humoral Immune Defects with Granulomas via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1ataxia telangiectasia10.0RAG1
2severe combined immunodeficiency, b cell-negative10.0RAG2, RAG1
3omenn syndrome10.0RAG2, RAG1
4hodgkin's lymphoma10.0RAG1, RAG2
5severe combined immunodeficiency10.0RAG2, RAG1
6t-cell leukemia10.0RAG2, RAG1
7burkitt's lymphoma10.0RAG2, RAG1
8ipex syndrome10.0RAG2, RAG1

Graphical network of diseases related to Combined Cellular and Humoral Immune Defects with Granulomas:



Diseases related to combined cellular and humoral immune defects with granulomas

Clinical Features for Combined Cellular and Humoral Immune Defects with Granulomas

Sources:
47OMIM
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Clinical features from OMIM:

233650

Clinical synopsis from OMIM:

233650

Drugs & Therapeutics for Combined Cellular and Humoral Immune Defects with Granulomas

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Combined Cellular and Humoral Immune Defects with Granulomas

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Genetic Tests for Combined Cellular and Humoral Immune Defects with Granulomas

Anatomical Context for Combined Cellular and Humoral Immune Defects with Granulomas

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33MalaCards
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MalaCards organs/tissues related to Combined Cellular and Humoral Immune Defects with Granulomas:

33
Skin

Animal Models for Combined Cellular and Humoral Immune Defects with Granulomas or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Combined Cellular and Humoral Immune Defects with Granulomas:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.1RAG2, RAG1

Publications for Combined Cellular and Humoral Immune Defects with Granulomas

Genetic Variations for Combined Cellular and Humoral Immune Defects with Granulomas

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Combined Cellular and Humoral Immune Defects with Granulomas:

63
id Symbol AA change Variation SNP ID
1RAG1p.Arg737HisVAR_008891rs104894286
2RAG1p.Arg507TrpVAR_025979rs104894298
3RAG1p.Arg314TrpVAR_045957rs121918568
4RAG1p.Arg778GlnVAR_045958rs121918569
5RAG1p.Arg975TrpVAR_045959rs121918570
6RAG2p.Thr77AsnVAR_045960
7RAG2p.Gly451AlaVAR_045962

Expression for genes affiliated with Combined Cellular and Humoral Immune Defects with Granulomas

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Combined Cellular and Humoral Immune Defects with Granulomas

Search GEO for disease gene expression data for Combined Cellular and Humoral Immune Defects with Granulomas.

Pathways for genes affiliated with Combined Cellular and Humoral Immune Defects with Granulomas

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30KEGG
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Pathways related to Combined Cellular and Humoral Immune Defects with Granulomas according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1RAG2, RAG1

Compounds for genes affiliated with Combined Cellular and Humoral Immune Defects with Granulomas

Sources:
45Novoseek, 29IUPHAR, 60Tocris Bioscience, 50PharmGKB, 11DrugBank, 24HMDB, 2BitterDB
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Compounds related to Combined Cellular and Humoral Immune Defects with Granulomas according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1probenecid45 29 60 50 1113.1RAG2, RAG1
2zinc45 2410.1RAG2, RAG1
3cytidine45 11 2411.0RAG2, RAG1
4caffeine45 50 29 2 11 2413.8RAG2, RAG1

GO Terms for genes affiliated with Combined Cellular and Humoral Immune Defects with Granulomas

Sources:
16Gene Ontology
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Biological processes related to Combined Cellular and Humoral Immune Defects with Granulomas according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1pre-B cell allelic exclusionGO:0023319.1RAG2, RAG1
2B cell differentiationGO:0301839.1RAG2, RAG1
3V(D)J recombinationGO:0331519.0RAG2, RAG1
4T cell differentiation in thymusGO:0330778.8RAG2, RAG1

Molecular functions related to Combined Cellular and Humoral Immune Defects with Granulomas according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endonuclease activityGO:0045199.1RAG2, RAG1

Products for genes affiliated with Combined Cellular and Humoral Immune Defects with Granulomas

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Sources for Combined Cellular and Humoral Immune Defects with Granulomas

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet