MCID: CMB022
MIFTS: 32

Combined Cellular and Humoral Immune Defects with Granulomas malady

Skin diseases, Blood diseases, Immune diseases categories

Summaries for Combined Cellular and Humoral Immune Defects with Granulomas

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46OMIM, 32MalaCards
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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 b cells, and related mouse phenotype tumorigenesis.

Description from OMIM:46 233650

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

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46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

combined cellular and humoral immune defects with granulomas 46
combined immunodeficiency due to rag 1/2 deficiency 48
combined immunodeficiency with skin granulomas 48
cid due to rag 1/2 deficiency 48


External Ids:

OMIM46 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-negative10.0RAG1, RAG2
3omenn syndrome10.0RAG2, RAG1
4hodgkin's lymphoma10.0RAG1, RAG2
5severe combined immunodeficiency10.0RAG1, RAG2
6t-cell leukemia10.0RAG1, RAG2
7burkitt's lymphoma10.0RAG1, RAG2
8ipex syndrome10.0RAG1, RAG2

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

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46OMIM
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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

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

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Drug clinical trials:

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Genetic Tests for Combined Cellular and Humoral Immune Defects with Granulomas

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Anatomical Context for Combined Cellular and Humoral Immune Defects with Granulomas

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32MalaCards
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MalaCards organs/tissues related to Combined Cellular and Humoral Immune Defects with Granulomas:

32
Skin, B cells

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

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36MGI
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MGI Mouse Phenotypes related to Combined Cellular and Humoral Immune Defects with Granulomas:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.1RAG2, RAG1

Publications for Combined Cellular and Humoral Immune Defects with Granulomas

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Genetic Variations for Combined Cellular and Humoral Immune Defects with Granulomas

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Combined Cellular and Humoral Immune Defects with Granulomas:

62
id Symbol AA change Variation ID 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

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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

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

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29KEGG
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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

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Sources:
44Novoseek, 28IUPHAR, 59Tocris Bioscience, 49PharmGKB, 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
1probenecid44 28 59 49 1113.1RAG2, RAG1
2zinc44 2410.1RAG2, RAG1
3cytidine44 11 2411.0RAG2, RAG1
4caffeine44 49 28 2 11 2413.8RAG2, RAG1

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

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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

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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