MCID: CMB022
MIFTS: 30

Combined Cellular and Humoral Immune Defects with Granulomas malady

Categories: Genetic diseases, Skin diseases, Blood diseases, Rare diseases, Immune diseases

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

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

Name: Combined Cellular and Humoral Immune Defects with Granulomas 50 68 25 12
Combined Immunodeficiency Due to Rag 1/2 Deficiency 52
Combined Immunodeficiency with Skin Granulomas 52
 
Cid Due to Rag 1/2 Deficiency 52
Chidg 68

Characteristics:

HPO:

62
combined cellular and humoral immune defects with granulomas:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM50 233650
Orphanet52 ORPHA157949
ICD10 via Orphanet29 D81.1
MedGen35 C2673536

Summaries for Combined Cellular and Humoral Immune Defects with Granulomas

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UniProtKB/Swiss-Prot:68 Combined cellular and humoral immune defects with granulomas: Immunodeficiency disease with granulomas in the skin, mucous membranes, and internal organs. Other characteristics include hypogammaglobulinemia, a diminished number of T and B-cells, and sparse thymic tissue on ultrasonography.

MalaCards based summary: Combined Cellular and Humoral Immune Defects with Granulomas, also known as combined immunodeficiency due to rag 1/2 deficiency, is related to severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive, cd3d-related and alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity, and has symptoms including recurrent respiratory infections, igg deficiency and combined immunodeficiency. An important gene associated with Combined Cellular and Humoral Immune Defects with Granulomas is RAG1 (Recombination Activating 1), and among its related pathways are FoxO signaling pathway and Primary immunodeficiency. Affiliated tissues include skin and b cells.

Description from OMIM:50 233650

Related Diseases for Combined Cellular and Humoral Immune Defects with Granulomas

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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:

id Description Frequency HPO Source Accession
1 recurrent respiratory infections HP:0002205
2 igg deficiency HP:0004315
3 combined immunodeficiency HP:0005387
4 t lymphocytopenia HP:0005403
5 b lymphocytopenia HP:0010976

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

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Interventional clinical trials:

Search ClinicalTrials, 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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Genetic tests related to Combined Cellular and Humoral Immune Defects with Granulomas:

id Genetic test Affiliating Genes
1 Combined Cellular and Humoral Immune Defects with Granulomas25

Anatomical Context for Combined Cellular and Humoral Immune Defects with Granulomas

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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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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:

68
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_045960rs121918574
7RAG2p.Gly451AlaVAR_045962rs121918575

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

5
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 pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1RAG1, RAG2
29.1RAG1, RAG2

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:00023319.5RAG1, RAG2
2T cell differentiation in thymusGO:00330779.1RAG1, RAG2
3B cell differentiationGO:00301839.0RAG1, RAG2
4V(D)J recombinationGO:00331518.8RAG1, RAG2

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

idNameGO IDScoreTop Affiliating Genes
1ubiquitin protein ligase activityGO:00616309.1RAG1, RAG2

Sources for Combined Cellular and Humoral Immune Defects with Granulomas

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet