CCHIDG
MCID: CMB022
MIFTS: 35

Combined Cellular and Humoral Immune Defects with Granulomas (CCHIDG)

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 74 29 13 6 72
Immune Defects, Combined Cellular and Humoral with Granulomas 40
Combined Immunodeficiency Due to Rag 1/2 Deficiency 59
Combined Immunodeficiency with Granulomatosis 59
Cid Due to Rag 1/2 Deficiency 59
Cchidg 57
Chidg 74

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:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 57 233650
ICD10 via Orphanet 34 D81.1
UMLS via Orphanet 73 C2673536
Orphanet 59 ORPHA157949
MedGen 42 C2673536
UMLS 72 C2673536

Summaries for Combined Cellular and Humoral Immune Defects with Granulomas

UniProtKB/Swiss-Prot : 74 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 b cells, skin and t cells, and related phenotypes are recurrent respiratory infections and decreased circulating igg level

More information 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

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 decreased circulating igg level 32 HP:0004315
3 decrease in t cell count 32 HP:0005403
4 b lymphocytopenia 32 HP:0010976
5 combined immunodeficiency 32 HP:0005387

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

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

Publications for Combined Cellular and Humoral Immune Defects with Granulomas

Articles related to Combined Cellular and Humoral Immune Defects with Granulomas:

# Title Authors PMID Year
1
Hypomorphic Rag mutations can cause destructive midline granulomatous disease. 8 71
20489056 2010
2
An immunodeficiency disease with RAG mutations and granulomas. 8 71
18463379 2008
3
Familial combined cellular and humoral immune defect with multisystem granulomata. 8
644530 1978

Variations for Combined Cellular and Humoral Immune Defects with Granulomas

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

6 (show top 50) (show all 112)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RAG2 NM_000536.4(RAG2): c.595G> T (p.Glu199Ter) single nucleotide variant Pathogenic rs748727021 11:36615124-36615124 11:36593574-36593574
2 RAG1 RAG1, 1-BP DEL, 1621C deletion Pathogenic
3 RAG1 NM_000448.2(RAG1): c.1421G> A (p.Arg474His) single nucleotide variant Pathogenic rs199474686 11:36596275-36596275 11:36574725-36574725
4 RAG1 NM_000448.2(RAG1): c.424C> T (p.Arg142Ter) single nucleotide variant Pathogenic 11:36595278-36595278 11:36573728-36573728
5 RAG1 NM_000448.2(RAG1): c.1180C> T (p.Arg394Trp) single nucleotide variant Pathogenic 11:36596034-36596034 11:36574484-36574484
6 RAG1 NM_000448.2(RAG1): c.994C> T (p.Arg332Ter) single nucleotide variant Pathogenic 11:36595848-36595848 11:36574298-36574298
7 RAG1 NM_000448.2(RAG1): c.1566G> T (p.Trp522Cys) single nucleotide variant Pathogenic rs193922461 11:36596420-36596420 11:36574870-36574870
8 RAG1 NM_000448.2(RAG1): c.983G> A (p.Cys328Tyr) single nucleotide variant Pathogenic rs121918571 11:36595837-36595837 11:36574287-36574287
9 RAG1 NM_000448.2(RAG1): c.940C> T (p.Arg314Trp) single nucleotide variant Pathogenic rs121918568 11:36595794-36595794 11:36574244-36574244
10 RAG1 NM_000448.2(RAG1): c.2210G> A (p.Arg737His) single nucleotide variant Pathogenic rs104894286 11:36597064-36597064 11:36575514-36575514
11 RAG1 NM_000448.2(RAG1): c.1187G> A (p.Arg396His) single nucleotide variant Pathogenic rs104894291 11:36596041-36596041 11:36574491-36574491
12 RAG1 NM_000448.2(RAG1): c.2333G> A (p.Arg778Gln) single nucleotide variant Pathogenic rs121918569 11:36597187-36597187 11:36575637-36575637
13 RAG1 NM_000448.2(RAG1): c.2974A> G (p.Lys992Glu) single nucleotide variant Pathogenic rs539590514 11:36597828-36597828 11:36576278-36576278
14 RAG1 NM_000448.2(RAG1): c.1210C> T (p.Arg404Trp) single nucleotide variant Pathogenic/Likely pathogenic 11:36596064-36596064 11:36574514-36574514
15 RAG1 NM_000448.2(RAG1): c.322C> T (p.Arg108Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922464 11:36595176-36595176 11:36573626-36573626
16 RAG1 NM_000448.2(RAG1): c.2348C> G (p.Ser783Ter) single nucleotide variant Pathogenic/Likely pathogenic 11:36597202-36597202 11:36575652-36575652
17 RAG1 NM_000448.2(RAG1): c.1303A> G (p.Met435Val) single nucleotide variant Pathogenic/Likely pathogenic rs141524540 11:36596157-36596157 11:36574607-36574607
18 RAG2 NM_000536.4(RAG2): c.1375A> C (p.Met459Leu) single nucleotide variant Likely pathogenic 11:36614344-36614344 11:36592794-36592794
19 RAG2 NM_000536.4(RAG2): c.186C> A (p.Phe62Leu) single nucleotide variant Likely pathogenic 11:36615533-36615533 11:36593983-36593983
20 RAG2 NM_000536.4(RAG2): c.283G> A (p.Gly95Arg) single nucleotide variant Likely pathogenic rs36001797 11:36615436-36615436 11:36593886-36593886
21 RAG2 NM_000536.4(RAG2): c.230C> A (p.Thr77Asn) single nucleotide variant Likely pathogenic rs121918574 11:36615489-36615489 11:36593939-36593939
22 RAG1 NM_000448.2(RAG1): c.2326C> T (p.Arg776Trp) single nucleotide variant Likely pathogenic rs121918572 11:36597180-36597180 11:36575630-36575630
23 RAG2 NM_000536.4(RAG2): c.1352G> C (p.Gly451Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs121918575 11:36614367-36614367 11:36592817-36592817
24 RAG2 NM_000536.4(RAG2): c.644C> T (p.Thr215Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs35691292 11:36615075-36615075 11:36593525-36593525
25 RAG1 NM_000448.2(RAG1): c.2981A> G (p.His994Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs775412266 11:36597835-36597835 11:36576285-36576285
26 RAG1 NM_000448.2(RAG1): c.2603C> T (p.Ala868Val) single nucleotide variant Conflicting interpretations of pathogenicity rs193922462 11:36597457-36597457 11:36575907-36575907
27 RAG2 NM_000536.4(RAG2): c.104G> C (p.Gly35Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs148508754 11:36615615-36615615 11:36594065-36594065
28 RAG1 NM_000448.2(RAG1): c.577G> A (p.Glu193Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs34841221 11:36595431-36595431 11:36573881-36573881
29 RAG2 NM_000536.4(RAG2): c.1095T> C (p.Ser365=) single nucleotide variant Conflicting interpretations of pathogenicity rs140519815 11:36614624-36614624 11:36593074-36593074
30 RAG2 NM_000536.4(RAG2): c.22G> A (p.Val8Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs150762709 11:36615697-36615697 11:36594147-36594147
31 RAG1 NM_000448.2(RAG1): c.527G> T (p.Cys176Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs149229197 11:36595381-36595381 11:36573831-36573831
32 RAG1 NM_000448.2(RAG1): c.335G> A (p.Arg112His) single nucleotide variant Conflicting interpretations of pathogenicity rs749223640 11:36595189-36595189 11:36573639-36573639
33 RAG2 NM_000536.4(RAG2): c.1504A> G (p.Met502Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145614809 11:36614215-36614215 11:36592665-36592665
34 RAG1 NM_000448.2(RAG1): c.1060C> A (p.Leu354Met) single nucleotide variant Uncertain significance rs753165042 11:36595914-36595914 11:36574364-36574364
35 RAG1 NM_000448.2(RAG1): c.1232T> C (p.Leu411Pro) single nucleotide variant Uncertain significance rs1554944877 11:36596086-36596086 11:36574536-36574536
36 RAG1 NM_000448.2(RAG1): c.851C> T (p.Pro284Leu) single nucleotide variant Uncertain significance rs1554944775 11:36595705-36595705 11:36574155-36574155
37 RAG1 NM_000448.2(RAG1): c.2500G> T (p.Ala834Ser) single nucleotide variant Uncertain significance rs1215266586 11:36597354-36597354 11:36575804-36575804
38 RAG2 NM_000536.4(RAG2): c.1391G> A (p.Arg464His) single nucleotide variant Uncertain significance rs147748696 11:36614328-36614328 11:36592778-36592778
39 RAG1 NM_000448.2(RAG1): c.830A> G (p.Lys277Arg) single nucleotide variant Uncertain significance rs1027087402 11:36595684-36595684 11:36574134-36574134
40 RAG1 NM_000448.2(RAG1): c.1361T> A (p.Leu454Gln) single nucleotide variant Uncertain significance rs199474677 11:36596215-36596215 11:36574665-36574665
41 RAG1 NM_000448.2(RAG1): c.2258A> T (p.His753Leu) single nucleotide variant Uncertain significance rs199474687 11:36597112-36597112 11:36575562-36575562
42 RAG1 NM_000448.2(RAG1): c.101G> A (p.Arg34Gln) single nucleotide variant Uncertain significance rs377307948 11:36594955-36594955 11:36573405-36573405
43 RAG1 NM_000448.2(RAG1): c.1742T> C (p.Met581Thr) single nucleotide variant Uncertain significance rs1317842420 11:36596596-36596596 11:36575046-36575046
44 RAG1 NM_000448.2(RAG1): c.1761T> G (p.Asp587Glu) single nucleotide variant Uncertain significance rs1554944973 11:36596615-36596615 11:36575065-36575065
45 RAG2 NM_000536.4(RAG2): c.1268G> A (p.Cys423Tyr) single nucleotide variant Uncertain significance rs768567592 11:36614451-36614451 11:36592901-36592901
46 RAG2 NM_000536.4(RAG2): c.562G> C (p.Glu188Gln) single nucleotide variant Uncertain significance rs1554947160 11:36615157-36615157 11:36593607-36593607
47 RAG1 NM_000448.2(RAG1): c.2774C> T (p.Thr925Met) single nucleotide variant Uncertain significance 11:36597628-36597628 11:36576078-36576078
48 RAG2 NM_000536.4(RAG2): c.541T> C (p.Cys181Arg) single nucleotide variant Uncertain significance 11:36615178-36615178 11:36593628-36593628
49 RAG2 NM_000536.4(RAG2): c.35T> C (p.Ile12Thr) single nucleotide variant Uncertain significance 11:36615684-36615684 11:36594134-36594134
50 RAG1 NM_000448.2(RAG1): c.191C> T (p.Ala64Val) single nucleotide variant Uncertain significance 11:36595045-36595045 11:36573495-36573495

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

74
# 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

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
11.29 RAG2 RAG1
2 10.52 RAG2 RAG1
3 10.07 RAG2 RAG1

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 RAG2 RAG1
2 DNA recombination GO:0006310 9.32 RAG2 RAG1
3 B cell differentiation GO:0030183 9.26 RAG2 RAG1
4 T cell differentiation in thymus GO:0033077 9.16 RAG2 RAG1
5 V(D)J recombination GO:0033151 8.96 RAG2 RAG1
6 pre-B cell allelic exclusion GO:0002331 8.62 RAG2 RAG1

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 RAG2 RAG1

Sources for Combined Cellular and Humoral Immune Defects with Granulomas

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....