MCID: CMB022
MIFTS: 26

Combined Cellular and Humoral Immune Defects with Granulomas malady

Categories: Genetic diseases (common), 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 49 11 67 24
 
Chidg 67

Characteristics:

HPO:

61
combined cellular and humoral immune defects with granulomas:
Onset and clinical course: infantile onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 233650
MedGen34 C2673536

Summaries for Combined Cellular and Humoral Immune Defects with Granulomas

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UniProtKB/Swiss-Prot:67 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 chidg, is related to alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity and severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative, jak3-related, and has symptoms including b lymphocytopenia, t lymphocytopenia and combined immunodeficiency. An important gene associated with Combined Cellular and Humoral Immune Defects with Granulomas is RAG1 (Recombination Activating Gene 1), and among its related pathways are FoxO signaling pathway and Primary immunodeficiency. Affiliated tissues include b cells and skin.

Description from OMIM:49 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 b lymphocytopenia HP:0010976
2 t lymphocytopenia HP:0005403
3 combined immunodeficiency HP:0005387
4 igg deficiency HP:0004315
5 recurrent respiratory infections HP:0002205

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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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:

33
B cells, Skin

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:

67
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:

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
1B cell differentiationGO:00301839.1RAG1, RAG2

Sources for Combined Cellular and Humoral Immune Defects with Granulomas

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet