MCID: CMB022
MIFTS: 31

Combined Cellular and Humoral Immune Defects with Granulomas malady

Genetic diseases, Skin diseases, Blood diseases, Rare diseases, Immune diseases categories

Summaries for Combined Cellular and Humoral Immune Defects with Granulomas

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48OMIM, 34MalaCards
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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 omenn syndrome and severe combined immunodeficiency. An important gene associated with Combined Cellular and Humoral Immune Defects with Granulomas is RAG2 (recombination activating gene 2), and among its related pathways are FoxO signaling pathway and 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 phenotypes are tumorigenesis and digestive/alimentary.

Description from OMIM:48 233650

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

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48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:



Aliases & Descriptions:

combined cellular and humoral immune defects with granulomas 48
combined immunodeficiency due to rag 1/2 deficiency 50
combined immunodeficiency with skin granulomas 50
cid due to rag 1/2 deficiency 50


External Ids:

OMIM48 233650
ICD10 via Orphanet27 D81.1

Related Diseases for Combined Cellular and Humoral Immune Defects with Granulomas

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18GeneCards, 19GeneDecks
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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
1omenn syndrome10.0RAG2, RAG1
2severe combined immunodeficiency10.0RAG1, RAG2
3hodgkin's lymphoma10.0RAG2, RAG1
4t-cell leukemia10.0RAG2, RAG1
5leukemia10.0RAG2, RAG1
6ipex syndrome10.0RAG1, RAG2
7burkitt's lymphoma9.9RAG2, 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

Symptoms for Combined Cellular and Humoral Immune Defects with Granulomas

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48OMIM
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Symptoms by clinical synopsis from OMIM:

233650

Clinical features from OMIM:

233650

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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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34MalaCards
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MalaCards organs/tissues related to Combined Cellular and Humoral Immune Defects with Granulomas:

34
Skin, B cells

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

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38MGI
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MGI Mouse Phenotypes related to Combined Cellular and Humoral Immune Defects with Granulomas:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.1RAG2, RAG1
2MP:00053819.1RAG2, RAG1
3MP:00053709.0RAG2, RAG1
4MP:00053888.8RAG2, RAG1

Publications for Combined Cellular and Humoral Immune Defects with Granulomas

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Variations for Combined Cellular and Humoral Immune Defects with Granulomas

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Combined Cellular and Humoral Immune Defects with Granulomas:

65
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

Clinvar genetic disease variations for Combined Cellular and Humoral Immune Defects with Granulomas:

1
id Gene Name Type Significance SNP ID Assembly Location
1RAG2NM_000536.3(RAG2): c.230C> A (p.Thr77Asn)single nucleotide variantPathogenicrs121918574GRCh37Chr 11, 36615489: 36615489
2RAG2NM_000536.3(RAG2): c.1352G> C (p.Gly451Ala)single nucleotide variantPathogenicrs121918575GRCh37Chr 11, 36614367: 36614367
3RAG1NM_000448.2(RAG1): c.940C> T (p.Arg314Trp)single nucleotide variantPathogenicrs121918568GRCh37Chr 11, 36595794: 36595794
4RAG1NM_000448.2(RAG1): c.2333G> A (p.Arg778Gln)single nucleotide variantPathogenicrs121918569GRCh37Chr 11, 36597187: 36597187
5RAG1NM_000448.2(RAG1): c.2923C> T (p.Arg975Trp)single nucleotide variantPathogenicrs121918570GRCh37Chr 11, 36597777: 36597777
6RAG1NM_000448.2(RAG1): c.1566G> T (p.Trp522Cys)single nucleotide variantLikely pathogenic, Pathogenicrs193922461GRCh37Chr 11, 36596420: 36596420

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

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2BioGPS, 16Gene 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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51PathCards, 31KEGG, 39NCBI BioSystems Database
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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
1
Show member pathways
PLK2 and PLK4 events39
Polo-like kinase signaling events in the cell cycle39
9.1RAG2, RAG1
29.1RAG2, RAG1

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

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Sources:
30IUPHAR, 46Novoseek, 62Tocris Bioscience, 52PharmGKB, 12DrugBank, 25HMDB, 3BitterDB
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Compounds related to Combined Cellular and Humoral Immune Defects with Granulomas according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1probenecid30 46 62 52 1213.1RAG2, RAG1
2zinc46 2510.1RAG2, RAG1
3cytidine46 25 1211.0RAG2, RAG1
4caffeine46 30 3 52 25 1213.8RAG2, RAG1

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

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17Gene 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
1zinc ion bindingGO:0082709.1RAG2, 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet