MCID: CMB022
MIFTS: 31

Combined Cellular and Humoral Immune Defects with Granulomas

Categories: Genetic diseases, Skin diseases, Blood diseases, Rare diseases, Immune 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:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


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 recombinase activating gene 1 deficiency and severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative. 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

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 9.5 RAG1 RAG2
2 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 9.4 RAG1 RAG2
3 malignant histiocytosis 9.4 RAG1 RAG2
4 lig4 syndrome 9.4 RAG1 RAG2
5 combined immunodeficiency, x-linked 9.3 RAG1 RAG2
6 omenn syndrome 9.2 RAG1 RAG2
7 immune deficiency disease 9.1 RAG1 RAG2
8 severe combined immunodeficiency 8.9 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:

57
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:

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, 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:

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 73)
# 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.230C> A (p.Thr77Asn) single nucleotide variant Pathogenic rs121918574 GRCh38 Chromosome 11, 36593939: 36593939
3 RAG2 NM_000536.3(RAG2): c.1352G> C (p.Gly451Ala) single nucleotide variant Pathogenic rs121918575 GRCh37 Chromosome 11, 36614367: 36614367
4 RAG2 NM_000536.3(RAG2): c.1352G> C (p.Gly451Ala) single nucleotide variant Pathogenic rs121918575 GRCh38 Chromosome 11, 36592817: 36592817
5 RAG1 NM_000448.2(RAG1): c.2210G> A (p.Arg737His) single nucleotide variant Pathogenic rs104894286 GRCh37 Chromosome 11, 36597064: 36597064
6 RAG1 NM_000448.2(RAG1): c.2210G> A (p.Arg737His) single nucleotide variant Pathogenic rs104894286 GRCh38 Chromosome 11, 36575514: 36575514
7 RAG1 NM_000448.2(RAG1): c.940C> T (p.Arg314Trp) single nucleotide variant Pathogenic rs121918568 GRCh37 Chromosome 11, 36595794: 36595794
8 RAG1 NM_000448.2(RAG1): c.940C> T (p.Arg314Trp) single nucleotide variant Pathogenic rs121918568 GRCh38 Chromosome 11, 36574244: 36574244
9 RAG1 NM_000448.2(RAG1): c.2333G> A (p.Arg778Gln) single nucleotide variant Pathogenic rs121918569 GRCh37 Chromosome 11, 36597187: 36597187
10 RAG1 NM_000448.2(RAG1): c.2333G> A (p.Arg778Gln) single nucleotide variant Pathogenic rs121918569 GRCh38 Chromosome 11, 36575637: 36575637
11 RAG1 NM_000448.2(RAG1): c.2923C> T (p.Arg975Trp) single nucleotide variant Pathogenic rs121918570 GRCh37 Chromosome 11, 36597777: 36597777
12 RAG1 NM_000448.2(RAG1): c.2923C> T (p.Arg975Trp) single nucleotide variant Pathogenic rs121918570 GRCh38 Chromosome 11, 36576227: 36576227
13 RAG1 RAG1, 1-BP DEL, 1621C deletion Pathogenic
14 RAG1 NM_000448.2(RAG1): c.1566G> T (p.Trp522Cys) single nucleotide variant Pathogenic rs193922461 GRCh37 Chromosome 11, 36596420: 36596420
15 RAG1 NM_000448.2(RAG1): c.1566G> T (p.Trp522Cys) single nucleotide variant Pathogenic rs193922461 GRCh38 Chromosome 11, 36574870: 36574870
16 RAG1 NM_000448.2(RAG1): c.1346G> A (p.Arg449Lys) single nucleotide variant Benign rs4151031 GRCh37 Chromosome 11, 36596200: 36596200
17 RAG1 NM_000448.2(RAG1): c.1346G> A (p.Arg449Lys) single nucleotide variant Benign rs4151031 GRCh38 Chromosome 11, 36574650: 36574650
18 RAG2 NM_000536.3(RAG2): c.878A> G (p.Glu293Gly) single nucleotide variant Benign/Likely benign rs16929093 GRCh38 Chromosome 11, 36593291: 36593291
19 RAG2 NM_000536.3(RAG2): c.878A> G (p.Glu293Gly) single nucleotide variant Benign/Likely benign rs16929093 GRCh37 Chromosome 11, 36614841: 36614841
20 RAG1 NM_000448.2(RAG1): c.2659G> A (p.Asp887Asn) single nucleotide variant Benign/Likely benign rs4151034 GRCh38 Chromosome 11, 36575963: 36575963
21 RAG1 NM_000448.2(RAG1): c.2659G> A (p.Asp887Asn) single nucleotide variant Benign/Likely benign rs4151034 GRCh37 Chromosome 11, 36597513: 36597513
22 RAG1 NM_000448.2(RAG1): c.577G> A (p.Glu193Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs34841221 GRCh37 Chromosome 11, 36595431: 36595431
23 RAG1 NM_000448.2(RAG1): c.577G> A (p.Glu193Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs34841221 GRCh38 Chromosome 11, 36573881: 36573881
24 RAG2 NM_000536.3(RAG2): c.1095T> C (p.Ser365=) single nucleotide variant Conflicting interpretations of pathogenicity rs140519815 GRCh38 Chromosome 11, 36593074: 36593074
25 RAG2 NM_000536.3(RAG2): c.1095T> C (p.Ser365=) single nucleotide variant Conflicting interpretations of pathogenicity rs140519815 GRCh37 Chromosome 11, 36614624: 36614624
26 RAG1 NM_000448.2(RAG1): c.2974A> G (p.Lys992Glu) single nucleotide variant Pathogenic rs539590514 GRCh37 Chromosome 11, 36597828: 36597828
27 RAG1 NM_000448.2(RAG1): c.2974A> G (p.Lys992Glu) single nucleotide variant Pathogenic rs539590514 GRCh38 Chromosome 11, 36576278: 36576278
28 RAG1 NM_000448.2(RAG1): c.251A> G (p.His84Arg) single nucleotide variant Benign rs150199231 GRCh37 Chromosome 11, 36595105: 36595105
29 RAG1 NM_000448.2(RAG1): c.251A> G (p.His84Arg) single nucleotide variant Benign rs150199231 GRCh38 Chromosome 11, 36573555: 36573555
30 RAG1 NM_000448.2(RAG1): c.335G> A (p.Arg112His) single nucleotide variant Conflicting interpretations of pathogenicity rs749223640 GRCh37 Chromosome 11, 36595189: 36595189
31 RAG1 NM_000448.2(RAG1): c.335G> A (p.Arg112His) single nucleotide variant Conflicting interpretations of pathogenicity rs749223640 GRCh38 Chromosome 11, 36573639: 36573639
32 RAG2 NM_000536.3(RAG2): c.1504A> G (p.Met502Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145614809 GRCh37 Chromosome 11, 36614215: 36614215
33 RAG2 NM_000536.3(RAG2): c.1504A> G (p.Met502Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145614809 GRCh38 Chromosome 11, 36592665: 36592665
34 RAG1 NM_000448.2(RAG1): c.1060C> A (p.Leu354Met) single nucleotide variant Uncertain significance rs753165042 GRCh38 Chromosome 11, 36574364: 36574364
35 RAG1 NM_000448.2(RAG1): c.1060C> A (p.Leu354Met) single nucleotide variant Uncertain significance rs753165042 GRCh37 Chromosome 11, 36595914: 36595914
36 RAG1 NM_000448.2(RAG1): c.1232T> C (p.Leu411Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 36574536: 36574536
37 RAG1 NM_000448.2(RAG1): c.1232T> C (p.Leu411Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 36596086: 36596086
38 RAG1 NM_000448.2(RAG1): c.851C> T (p.Pro284Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 36595705: 36595705
39 RAG1 NM_000448.2(RAG1): c.851C> T (p.Pro284Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 36574155: 36574155
40 RAG1 NM_000448.2(RAG1): c.2500G> T (p.Ala834Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 36597354: 36597354
41 RAG1 NM_000448.2(RAG1): c.2500G> T (p.Ala834Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 36575804: 36575804
42 RAG2 NM_000536.3(RAG2): c.899G> A (p.Arg300His) single nucleotide variant Likely benign rs138857320 GRCh37 Chromosome 11, 36614820: 36614820
43 RAG2 NM_000536.3(RAG2): c.899G> A (p.Arg300His) single nucleotide variant Likely benign rs138857320 GRCh38 Chromosome 11, 36593270: 36593270
44 RAG1 NM_000448.2(RAG1): c.830A> G (p.Lys277Arg) single nucleotide variant Uncertain significance rs1027087402 GRCh37 Chromosome 11, 36595684: 36595684
45 RAG1 NM_000448.2(RAG1): c.830A> G (p.Lys277Arg) single nucleotide variant Uncertain significance rs1027087402 GRCh38 Chromosome 11, 36574134: 36574134
46 RAG1 NM_000448.2(RAG1): c.2799A> G (p.Gly933=) single nucleotide variant Likely benign rs769375583 GRCh37 Chromosome 11, 36597653: 36597653
47 RAG1 NM_000448.2(RAG1): c.2799A> G (p.Gly933=) single nucleotide variant Likely benign rs769375583 GRCh38 Chromosome 11, 36576103: 36576103
48 RAG1 NM_000448.2(RAG1): c.2571C> T (p.Ala857=) single nucleotide variant Benign/Likely benign rs141560248 GRCh38 Chromosome 11, 36575875: 36575875
49 RAG1 NM_000448.2(RAG1): c.2571C> T (p.Ala857=) single nucleotide variant Benign/Likely benign rs141560248 GRCh37 Chromosome 11, 36597425: 36597425
50 RAG2 NM_000536.3(RAG2): c.1403A> G (p.His468Arg) single nucleotide variant Uncertain significance rs751064709 GRCh38 Chromosome 11, 36592766: 36592766

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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