CHIDG
MCID: CMB022
MIFTS: 31

Combined Cellular and Humoral Immune Defects with Granulomas (CHIDG) malady

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

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

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

Name: Combined Cellular and Humoral Immune Defects with Granulomas 54 24 66 29 13
Combined Immunodeficiency Due to Rag 1/2 Deficiency 56
Combined Immunodeficiency with Skin Granulomas 56
Cid Due to Rag 1/2 Deficiency 56
Cchidg 24
Chidg 66

Characteristics:

HPO:

32
combined cellular and humoral immune defects with granulomas:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 54 233650
Orphanet 56 ORPHA157949
ICD10 via Orphanet 34 D81.1
MedGen 40 C2673536

Summaries for Combined Cellular and Humoral Immune Defects with Granulomas

UniProtKB/Swiss-Prot : 66 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 slc6a20-related hyperglycinuria and interleukin-7 receptor alpha deficiency, and has symptoms including recurrent respiratory infections, b lymphocytopenia and igg deficiency. An important gene associated with Combined Cellular and Humoral Immune Defects with Granulomas is RAG2 (Recombination Activating 2), and among its related pathways/superpathways are FoxO signaling pathway and Primary immunodeficiency. Affiliated tissues include skin, b cells and t cells.

Description from OMIM: 233650

Related Diseases for Combined Cellular and Humoral Immune Defects with Granulomas

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

id Related Disease Score Top Affiliating Genes
1 slc6a20-related hyperglycinuria 9.9 RAG1 RAG2
2 interleukin-7 receptor alpha deficiency 9.9 RAG1 RAG2
3 nephrotic syndrome, type 4 9.9 RAG1 RAG2
4 slc16a1-related hyperinsulinism 9.9 RAG1 RAG2
5 ectopic thymus 9.9 RAG1 RAG2
6 porencephaly 1 9.9 RAG1 RAG2
7 childhood choriocarcinoma of the testis 9.8 RAG1 RAG2
8 cockayne syndrome, type b 9.8 RAG1 RAG2
9 single ventricular heart 9.7 RAG1 RAG2

Graphical network of the top 20 diseases related to Combined Cellular and Humoral Immune Defects with Granulomas:



Diseases related to Combined Cellular and Humoral Immune Defects with Granulomas

Symptoms & Phenotypes for Combined Cellular and Humoral Immune Defects with Granulomas

Symptoms by clinical synopsis from OMIM:

233650

Clinical features from OMIM:

233650

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

32
id Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 32 HP:0002205
2 b lymphocytopenia 32 HP:0010976
3 igg deficiency 32 HP:0004315
4 decrease in t cell count 32 HP:0005403
5 combined immunodeficiency 32 HP:0005387

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

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

Genetic Tests for Combined Cellular and Humoral Immune Defects with Granulomas

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 Granulomas 29 24 RAG2

Anatomical Context for Combined Cellular and Humoral Immune Defects with Granulomas

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

39
Skin, B Cells, T Cells

Publications for Combined Cellular and Humoral Immune Defects with Granulomas

Variations for Combined Cellular and Humoral Immune Defects with Granulomas

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

66
id Symbol AA change Variation ID SNP ID
1 RAG1 p.Arg737His VAR_008891 rs104894286
2 RAG1 p.Arg507Trp VAR_025979 rs104894298
3 RAG1 p.Arg314Trp VAR_045957 rs121918568
4 RAG1 p.Arg778Gln VAR_045958 rs121918569
5 RAG1 p.Arg975Trp VAR_045959 rs121918570
6 RAG2 p.Thr77Asn VAR_045960 rs121918574
7 RAG2 p.Gly451Ala VAR_045962 rs121918575

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RAG2 NM_000536.3(RAG2): c.230C> A (p.Thr77Asn) single nucleotide variant Pathogenic rs121918574 GRCh37 Chromosome 11, 36615489: 36615489
2 RAG2 NM_000536.3(RAG2): c.1352G> C (p.Gly451Ala) single nucleotide variant Pathogenic rs121918575 GRCh37 Chromosome 11, 36614367: 36614367
3 RAG1 NM_000448.2(RAG1): c.2210G> A (p.Arg737His) single nucleotide variant Pathogenic rs104894286 GRCh37 Chromosome 11, 36597064: 36597064
4 RAG1 NM_000448.2(RAG1): c.940C> T (p.Arg314Trp) single nucleotide variant Pathogenic rs121918568 GRCh37 Chromosome 11, 36595794: 36595794
5 RAG1 NM_000448.2(RAG1): c.2333G> A (p.Arg778Gln) single nucleotide variant Pathogenic rs121918569 GRCh37 Chromosome 11, 36597187: 36597187
6 RAG1 NM_000448.2(RAG1): c.2923C> T (p.Arg975Trp) single nucleotide variant Pathogenic rs121918570 GRCh37 Chromosome 11, 36597777: 36597777
7 RAG1 RAG1, 1-BP DEL, 1621C deletion Pathogenic
8 RAG1 NM_000448.2(RAG1): c.1566G> T (p.Trp522Cys) single nucleotide variant Pathogenic/Likely pathogenic rs193922461 GRCh37 Chromosome 11, 36596420: 36596420

Expression for Combined Cellular and Humoral Immune Defects with Granulomas

Search GEO for disease gene expression data for Combined Cellular and Humoral Immune Defects with Granulomas.

Pathways for Combined Cellular and Humoral Immune Defects with Granulomas

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.3 RAG1 RAG2
2 10.52 RAG1 RAG2
3 10.07 RAG1 RAG2

GO Terms for Combined Cellular and Humoral Immune Defects with Granulomas

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

id Name GO ID Score Top Affiliating Genes
1 covalent chromatin modification GO:0016569 9.37 RAG1 RAG2
2 DNA recombination GO:0006310 9.32 RAG1 RAG2
3 B cell differentiation GO:0030183 9.26 RAG1 RAG2
4 T cell differentiation in thymus GO:0033077 9.16 RAG1 RAG2
5 V(D)J recombination GO:0033151 8.96 RAG1 RAG2
6 pre-B cell allelic exclusion GO:0002331 8.62 RAG1 RAG2

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

id Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase activity GO:0061630 8.62 RAG1 RAG2

Sources for Combined Cellular and Humoral Immune Defects with Granulomas

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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48 NDF-RT
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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