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

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

Name: Combined Cellular and Humoral Immune Defects with Granulomas 52 24 70 27 12
Combined Immunodeficiency Due to Rag 1/2 Deficiency 54
Combined Immunodeficiency with Skin Granulomas 54
 
Cid Due to Rag 1/2 Deficiency 54
Cchidg 24
Chidg 70

Characteristics:

HPO:

64
combined cellular and humoral immune defects with granulomas:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM52 233650
Orphanet54 ORPHA157949
ICD10 via Orphanet31 D81.1
MedGen37 C2673536

Summaries for Combined Cellular and Humoral Immune Defects with Granulomas

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UniProtKB/Swiss-Prot:70 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, igg deficiency and combined immunodeficiency. An important gene associated with Combined Cellular and Humoral Immune Defects with Granulomas is RAG2 (Recombination Activating 2), and among its related pathways are FoxO signaling pathway and Primary immunodeficiency. Affiliated tissues include skin, b cells and t cells.

Description from OMIM:52 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
1slc6a20-related hyperglycinuria9.9RAG1, RAG2
2interleukin-7 receptor alpha deficiency9.9RAG1, RAG2
3nephrotic syndrome, type 49.9RAG1, RAG2
4slc16a1-related hyperinsulinism9.9RAG1, RAG2
5ectopic thymus9.9RAG1, RAG2
6porencephaly 19.9RAG1, RAG2
7childhood choriocarcinoma of the testis9.8RAG1, RAG2
8cockayne syndrome, type b9.8RAG1, RAG2
9single ventricular heart9.7RAG1, RAG2

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 & Phenotypes 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

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

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id Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections64 HP:0002205
2 igg deficiency64 HP:0004315
3 combined immunodeficiency64 HP:0005387
4 decrease in t cell count64 HP:0005403
5 b lymphocytopenia64 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 Granulomas27 24 RAG2

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:

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Skin, B cells, T cells

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:

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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)SNVPathogenicrs121918574GRCh37Chr 11, 36615489: 36615489
2RAG2NM_ 000536.3(RAG2): c.1352G> C (p.Gly451Ala)SNVPathogenicrs121918575GRCh37Chr 11, 36614367: 36614367
3RAG1NM_ 000448.2(RAG1): c.940C> T (p.Arg314Trp)SNVPathogenicrs121918568GRCh37Chr 11, 36595794: 36595794
4RAG1NM_ 000448.2(RAG1): c.2210G> A (p.Arg737His)SNV, HaplotypePathogenicrs104894286GRCh37Chr 11, 36597064: 36597064
5RAG1NM_ 000448.2(RAG1): c.2333G> A (p.Arg778Gln)SNVPathogenicrs121918569GRCh37Chr 11, 36597187: 36597187
6RAG1NM_ 000448.2(RAG1): c.2923C> T (p.Arg975Trp)SNVPathogenicrs121918570GRCh37Chr 11, 36597777: 36597777
7RAG1RAG1, 1-BP DEL, 1621CdeletionPathogenic
8RAG1NM_ 000448.2(RAG1): c.1566G> T (p.Trp522Cys)SNVPathogenic/ Likely 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
39.1RAG1, 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:00301839.8RAG1, RAG2
2covalent chromatin modificationGO:00165699.7RAG1, RAG2
3DNA recombinationGO:00063109.6RAG1, RAG2
4pre-B cell allelic exclusionGO:00023319.6RAG1, RAG2
5T cell differentiation in thymusGO:00330779.4RAG1, RAG2
6V(D)J recombinationGO:00331519.1RAG1, 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet