CHIDG
MCID: CMB022
MIFTS: 32

Combined Cellular and Humoral Immune Defects with Granulomas (CHIDG)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases, Skin 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 57 75 29 13 6 73
Immune Defects, Combined Cellular and Humoral with Granulomas 40
Combined Immunodeficiency Due to Rag 1/2 Deficiency 59
Combined Immunodeficiency with Skin Granulomas 59
Cid Due to Rag 1/2 Deficiency 59
Cchidg 57
Chidg 75

Characteristics:

OMIM:

57
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:

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


Classifications:



External Ids:

OMIM 57 233650
Orphanet 59 ORPHA157949
ICD10 via Orphanet 34 D81.1
UMLS via Orphanet 74 C2673536
MedGen 42 C2673536
SNOMED-CT via HPO 69 258211005 123785006 190981001
UMLS 73 C2673536

Summaries for Combined Cellular and Humoral Immune Defects with Granulomas

UniProtKB/Swiss-Prot : 75 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 immune defects, combined cellular and humoral with granulomas, is related to combined immunodeficiency with skin granulomas and recombinase activating gene 1 deficiency. 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, and related phenotypes are recurrent respiratory infections and decrease in t cell count

Description from OMIM: 233650

Related Diseases for Combined Cellular and Humoral Immune Defects with Granulomas

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:

57
Immunology:
hypogammaglobulinemia
granulomas, non-infectious
granulomas can appear on skin, tongue, lungs, or other tissues
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:

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

# Genetic test Affiliating Genes
1 Combined Cellular and Humoral Immune Defects with Granulomas 29 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:

41
Skin, B Cells, T Cells, Lung, Tongue, Thymus, Nk 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:

75
# 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 (show top 50) (show all 133)
# Gene Variation Type Significance SNP ID Assembly Location
1 RAG2 NM_001243785.1(RAG2): c.283G> A (p.Gly95Arg) single nucleotide variant Likely pathogenic rs36001797 GRCh37 Chromosome 11, 36615436: 36615436
2 RAG2 NM_001243785.1(RAG2): c.283G> A (p.Gly95Arg) single nucleotide variant Likely pathogenic rs36001797 GRCh38 Chromosome 11, 36593886: 36593886
3 RAG2 NM_000536.3(RAG2): c.644C> T (p.Thr215Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs35691292 GRCh37 Chromosome 11, 36615075: 36615075
4 RAG2 NM_000536.3(RAG2): c.644C> T (p.Thr215Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs35691292 GRCh38 Chromosome 11, 36593525: 36593525
5 RAG2 NM_000536.3(RAG2): c.230C> A (p.Thr77Asn) single nucleotide variant Likely pathogenic rs121918574 GRCh37 Chromosome 11, 36615489: 36615489
6 RAG2 NM_000536.3(RAG2): c.230C> A (p.Thr77Asn) single nucleotide variant Likely pathogenic rs121918574 GRCh38 Chromosome 11, 36593939: 36593939
7 RAG2 NM_000536.3(RAG2): c.1352G> C (p.Gly451Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs121918575 GRCh37 Chromosome 11, 36614367: 36614367
8 RAG2 NM_000536.3(RAG2): c.1352G> C (p.Gly451Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs121918575 GRCh38 Chromosome 11, 36592817: 36592817
9 RAG1 NM_000448.2(RAG1): c.1187G> A (p.Arg396His) single nucleotide variant Pathogenic rs104894291 GRCh37 Chromosome 11, 36596041: 36596041
10 RAG1 NM_000448.2(RAG1): c.1187G> A (p.Arg396His) single nucleotide variant Pathogenic rs104894291 GRCh38 Chromosome 11, 36574491: 36574491
11 RAG1 NM_000448.2(RAG1): c.2210G> A (p.Arg737His) single nucleotide variant Pathogenic rs104894286 GRCh37 Chromosome 11, 36597064: 36597064
12 RAG1 NM_000448.2(RAG1): c.2210G> A (p.Arg737His) single nucleotide variant Pathogenic rs104894286 GRCh38 Chromosome 11, 36575514: 36575514
13 RAG1 NM_000448.2(RAG1): c.940C> T (p.Arg314Trp) single nucleotide variant Pathogenic rs121918568 GRCh37 Chromosome 11, 36595794: 36595794
14 RAG1 NM_000448.2(RAG1): c.940C> T (p.Arg314Trp) single nucleotide variant Pathogenic rs121918568 GRCh38 Chromosome 11, 36574244: 36574244
15 RAG1 NM_000448.2(RAG1): c.1519C> T (p.Arg507Trp) single nucleotide variant no interpretation for the single variant rs104894298 GRCh37 Chromosome 11, 36596373: 36596373
16 RAG1 NM_000448.2(RAG1): c.1519C> T (p.Arg507Trp) single nucleotide variant no interpretation for the single variant rs104894298 GRCh38 Chromosome 11, 36574823: 36574823
17 RAG1 NM_000448.2(RAG1): c.2333G> A (p.Arg778Gln) single nucleotide variant Pathogenic rs121918569 GRCh37 Chromosome 11, 36597187: 36597187
18 RAG1 NM_000448.2(RAG1): c.2333G> A (p.Arg778Gln) single nucleotide variant Pathogenic rs121918569 GRCh38 Chromosome 11, 36575637: 36575637
19 RAG1 NM_000448.2(RAG1): c.2923C> T (p.Arg975Trp) single nucleotide variant Pathogenic rs121918570 GRCh37 Chromosome 11, 36597777: 36597777
20 RAG1 NM_000448.2(RAG1): c.2923C> T (p.Arg975Trp) single nucleotide variant Pathogenic rs121918570 GRCh38 Chromosome 11, 36576227: 36576227
21 RAG1 RAG1, 1-BP DEL, 1621C deletion Pathogenic
22 RAG1 NM_000448.2(RAG1): c.1566G> T (p.Trp522Cys) single nucleotide variant Pathogenic rs193922461 GRCh37 Chromosome 11, 36596420: 36596420
23 RAG1 NM_000448.2(RAG1): c.1566G> T (p.Trp522Cys) single nucleotide variant Pathogenic rs193922461 GRCh38 Chromosome 11, 36574870: 36574870
24 RAG1 NM_000448.2(RAG1): c.189A> G (p.Pro63=) single nucleotide variant Benign/Likely benign rs34357808 GRCh37 Chromosome 11, 36595043: 36595043
25 RAG1 NM_000448.2(RAG1): c.189A> G (p.Pro63=) single nucleotide variant Benign/Likely benign rs34357808 GRCh38 Chromosome 11, 36573493: 36573493
26 RAG1 NM_000448.2(RAG1): c.906C> A (p.Asp302Glu) single nucleotide variant Benign/Likely benign rs4151030 GRCh37 Chromosome 11, 36595760: 36595760
27 RAG1 NM_000448.2(RAG1): c.906C> A (p.Asp302Glu) single nucleotide variant Benign/Likely benign rs4151030 GRCh38 Chromosome 11, 36574210: 36574210
28 RAG1 NM_000448.2(RAG1): c.2258A> T (p.His753Leu) single nucleotide variant Uncertain significance rs199474687 GRCh37 Chromosome 11, 36597112: 36597112
29 RAG1 NM_000448.2(RAG1): c.2258A> T (p.His753Leu) single nucleotide variant Uncertain significance rs199474687 GRCh38 Chromosome 11, 36575562: 36575562
30 RAG1 NM_000448.2(RAG1): c.303G> A (p.Ala101=) single nucleotide variant Benign/Likely benign rs4151025 GRCh38 Chromosome 11, 36573607: 36573607
31 RAG1 NM_000448.2(RAG1): c.303G> A (p.Ala101=) single nucleotide variant Benign/Likely benign rs4151025 GRCh37 Chromosome 11, 36595157: 36595157
32 RAG1 NM_000448.2(RAG1): c.746G> A (p.Arg249His) single nucleotide variant Benign rs3740955 GRCh37 Chromosome 11, 36595600: 36595600
33 RAG1 NM_000448.2(RAG1): c.746G> A (p.Arg249His) single nucleotide variant Benign rs3740955 GRCh38 Chromosome 11, 36574050: 36574050
34 RAG1 NM_000448.2(RAG1): c.2638G> A (p.Glu880Lys) single nucleotide variant Benign rs4151033 GRCh38 Chromosome 11, 36575942: 36575942
35 RAG1 NM_000448.2(RAG1): c.2638G> A (p.Glu880Lys) single nucleotide variant Benign rs4151033 GRCh37 Chromosome 11, 36597492: 36597492
36 RAG2 NM_000536.3(RAG2): c.22G> A (p.Val8Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs150762709 GRCh38 Chromosome 11, 36594147: 36594147
37 RAG2 NM_000536.3(RAG2): c.22G> A (p.Val8Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs150762709 GRCh37 Chromosome 11, 36615697: 36615697
38 RAG2 NM_000536.3(RAG2): c.741G> A (p.Val247=) single nucleotide variant Benign/Likely benign rs34092949 GRCh38 Chromosome 11, 36593428: 36593428
39 RAG2 NM_000536.3(RAG2): c.741G> A (p.Val247=) single nucleotide variant Benign/Likely benign rs34092949 GRCh37 Chromosome 11, 36614978: 36614978
40 RAG2 NM_000536.3(RAG2): c.1158C> A (p.Phe386Leu) single nucleotide variant Benign/Likely benign rs34629171 GRCh38 Chromosome 11, 36593011: 36593011
41 RAG2 NM_000536.3(RAG2): c.1158C> A (p.Phe386Leu) single nucleotide variant Benign/Likely benign rs34629171 GRCh37 Chromosome 11, 36614561: 36614561
42 RAG1 NM_000448.2(RAG1): c.1346G> A (p.Arg449Lys) single nucleotide variant Benign rs4151031 GRCh37 Chromosome 11, 36596200: 36596200
43 RAG1 NM_000448.2(RAG1): c.1346G> A (p.Arg449Lys) single nucleotide variant Benign rs4151031 GRCh38 Chromosome 11, 36574650: 36574650
44 RAG2 NM_000536.3(RAG2): c.878A> G (p.Glu293Gly) single nucleotide variant Benign/Likely benign rs16929093 GRCh38 Chromosome 11, 36593291: 36593291
45 RAG2 NM_000536.3(RAG2): c.878A> G (p.Glu293Gly) single nucleotide variant Benign/Likely benign rs16929093 GRCh37 Chromosome 11, 36614841: 36614841
46 RAG1 NM_000448.2(RAG1): c.2659G> A (p.Asp887Asn) single nucleotide variant Benign/Likely benign rs4151034 GRCh38 Chromosome 11, 36575963: 36575963
47 RAG1 NM_000448.2(RAG1): c.2659G> A (p.Asp887Asn) single nucleotide variant Benign/Likely benign rs4151034 GRCh37 Chromosome 11, 36597513: 36597513
48 RAG1 NM_000448.2(RAG1): c.577G> A (p.Glu193Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs34841221 GRCh37 Chromosome 11, 36595431: 36595431
49 RAG1 NM_000448.2(RAG1): c.577G> A (p.Glu193Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs34841221 GRCh38 Chromosome 11, 36573881: 36573881
50 RAG2 NM_000536.3(RAG2): c.1095T> C (p.Ser365=) single nucleotide variant Conflicting interpretations of pathogenicity rs140519815 GRCh38 Chromosome 11, 36593074: 36593074

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 chromatin organization GO:0006325 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

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