MCID: CMB022
MIFTS: 24

Combined Cellular and Humoral Immune Defects with Granulomas malady

Genetic diseases (common), Immune diseases categories

Summaries for Combined Cellular and Humoral Immune Defects with Granulomas

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MalaCards based summary: Combined Cellular and Humoral Immune Defects with Granulomas is related to omenn syndrome and severe combined immunodeficiency, and has symptoms including autosomal recessive inheritance, recurrent respiratory infections and infantile onset. 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. Related mouse phenotypes are tumorigenesis and digestive/alimentary.

Description from OMIM:45 233650

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

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Combined Cellular and Humoral Immune Defects with Granulomas, Aliases & Descriptions:

Name: Combined Cellular and Humoral Immune Defects with Granulomas 45 10


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Immune diseases


External Ids:

OMIM45 233650

Related Diseases for Combined Cellular and Humoral Immune Defects with Granulomas

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Diseases related to Combined Cellular and Humoral Immune Defects with Granulomas via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1omenn syndrome9.9RAG2, RAG1
2severe combined immunodeficiency9.9RAG1, RAG2
3hodgkin lymphoma9.9RAG2, RAG1
4t-cell leukemia9.9RAG2, RAG1
5leukemia9.9RAG2, RAG1
6ipex syndrome9.8RAG1, RAG2
7burkitt lymphoma9.7RAG2, 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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Symptoms by clinical synopsis from OMIM:

233650

Clinical features from OMIM:

233650

HPO human phenotypes related to Combined Cellular and Humoral Immune Defects with Granulomas:

(show all 7)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 recurrent respiratory infections HP:0002205
3 infantile onset HP:0003593
4 igg deficiency HP:0004315
5 combined immunodeficiency HP:0005387
6 t lymphocytopenia HP:0005403
7 b lymphocytopenia HP:0010976

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

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Drug clinical trials:

Search ClinicalTrials for Combined Cellular and Humoral Immune Defects with Granulomas

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

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

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

35
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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UniProtKB/Swiss-Prot 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

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

6
id Gene Variation 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.2210G> A (p.Arg737His)single nucleotide variantPathogenicrs104894286GRCh37Chr 11, 36597064: 36597064
4RAG1NM_000448.2(RAG1): c.940C> T (p.Arg314Trp)single nucleotide variantPathogenicrs121918568GRCh37Chr 11, 36595794: 36595794
5RAG1NM_000448.2(RAG1): c.2210G> A (p.Arg737His)single nucleotide variantPathogenicrs104894286GRCh37Chr 11, 36597064: 36597064
6RAG1NM_000448.2(RAG1): c.2333G> A (p.Arg778Gln)single nucleotide variantPathogenicrs121918569GRCh37Chr 11, 36597187: 36597187
7RAG1NM_000448.2(RAG1): c.2923C> T (p.Arg975Trp)single nucleotide variantPathogenicrs121918570GRCh37Chr 11, 36597777: 36597777
8RAG1RAG1, 1-BP DEL, 1621CdeletionPathogenic
9RAG1NM_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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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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Pathways related to Combined Cellular and Humoral Immune Defects with Granulomas according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
PLK2 and PLK4 events36
Polo-like kinase signaling events in the cell cycle36
9.1RAG2, RAG1
29.1RAG2, RAG1

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

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Compounds related to Combined Cellular and Humoral Immune Defects with Granulomas according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1probenecid28 43 59 49 1213.1RAG2, RAG1
2zinc43 2410.1RAG2, RAG1
3cytidine43 24 1211.0RAG2, RAG1
4caffeine43 28 2 49 24 1213.8RAG2, RAG1

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

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Biological processes related to Combined Cellular and Humoral Immune Defects with Granulomas according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1pre-B cell allelic exclusionGO:00023319.1RAG2, RAG1
2B cell differentiationGO:00301839.1RAG2, RAG1
3V(D)J recombinationGO:00331519.0RAG2, RAG1
4T cell differentiation in thymusGO:00330778.8RAG2, RAG1

Molecular functions related to Combined Cellular and Humoral Immune Defects with Granulomas according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1zinc ion bindingGO:00082709.1RAG2, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet