MCID: CMB022
MIFTS: 31

Combined Cellular and Humoral Immune Defects with Granulomas

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

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

MalaCards integrated aliases for Combined Cellular and Humoral Immune Defects with Granulomas:

Name: Combined Cellular and Humoral Immune Defects with Granulomas 53 71 28 13 69
Combined Immunodeficiency Due to Rag 1/2 Deficiency 55
Combined Immunodeficiency with Skin Granulomas 55
Cid Due to Rag 1/2 Deficiency 55
Cchidg 53
Chidg 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood
allelic disorder to t cell-negative, b cell-negative, nk cell- negative scid , which is more severe


HPO:

31
combined cellular and humoral immune defects with granulomas:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 53 233650
Orphanet 55 ORPHA157949
UMLS via Orphanet 70 C2673536
ICD10 via Orphanet 33 D81.1
MedGen 39 C2673536
SNOMED-CT via HPO 65 258211005 123785006 190981001
UMLS 69 C2673536

Summaries for Combined Cellular and Humoral Immune Defects with Granulomas

UniProtKB/Swiss-Prot : 71 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 recombinase activating gene 1 deficiency and severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative, and has symptoms including recurrent respiratory infections, decrease in t cell count and b lymphocytopenia. An important gene associated with Combined Cellular and Humoral Immune Defects with Granulomas is RAG1 (Recombination Activating 1), 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:

# Related Disease Score Top Affiliating Genes
1 recombinase activating gene 1 deficiency 9.7 RAG1 RAG2
2 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 9.7 RAG1 RAG2
3 malignant histiocytosis 9.7 RAG1 RAG2
4 lig4 syndrome 9.7 RAG1 RAG2
5 combined immunodeficiency, x-linked 9.6 RAG1 RAG2
6 omenn syndrome 9.6 RAG1 RAG2
7 immune deficiency disease 9.5 RAG1 RAG2
8 severe combined immunodeficiency 9.4 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 via clinical synopsis from OMIM:

53
Immunology:
granulomas, non-infectious
granulomas can appear on skin, tongue, lungs, or other tissues
hypogammaglobulinemia
lack of thymus on ultrasound
decreased numbers of b cells
more

Clinical features from OMIM:

233650

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

31
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 31 HP:0002205
2 decrease in t cell count 31 HP:0005403
3 b lymphocytopenia 31 HP:0010976
4 igg deficiency 31 HP:0004315
5 combined immunodeficiency 31 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:

# Genetic test Affiliating Genes
1 Combined Cellular and Humoral Immune Defects with Granulomas 28 RAG1 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:

38
Skin, B Cells, T Cells, Lung, Tongue, Nk Cells, Thymus

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:

71
# 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
# 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:

# 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:

# 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:

# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....