IMD17
MCID: IMM184
MIFTS: 43

Immunodeficiency 17 (IMD17)

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

Aliases & Classifications for Immunodeficiency 17

MalaCards integrated aliases for Immunodeficiency 17:

Name: Immunodeficiency 17 57 75 29 6 73
Scid-Like Immunodeficiency, T Cell-Partial, B Cell-Positive, Nk Cell-Positive 57 75
Cd3-Gamma Deficiency 57 75
Cd3gamma Deficiency 12 15
Imd17 57 75
Combined Immunodeficiency Due to Cd3gamma Deficiency 59
Immunodeficiency 17, Cd3 Gamma Deficient 57
Immunodeficiency, Type 17 40

Characteristics:

Orphanet epidemiological data:

59
combined immunodeficiency due to cd3gamma deficiency
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
highly variable severity
some patients may die in infancy, whereas others survive into adulthood and are only mildly affected or essentially clinically asymptomatic
t-cell lymphopenia is more severe early in life


HPO:

32
immunodeficiency 17:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 615607
Disease Ontology 12 DOID:0060018
Orphanet 59 ORPHA169082
ICD10 via Orphanet 34 D81.2
MeSH 44 D007153
UMLS 73 C3810107

Summaries for Immunodeficiency 17

OMIM : 57 Immunodeficiency-17 is an autosomal recessive primary immunodeficiency characterized by highly variable clinical severity. Some patients have onset of severe recurrent infections in early infancy that may be lethal, whereas others may be only mildly affected or essentially asymptomatic into young adulthood. More severely affected patients may have evidence of autoimmune disease or enteropathy. The immunologic pattern is similar among patients, showing partial T-cell lymphopenia, particularly of cytotoxic CD8 (see 186910)-positive cells, decreased amounts of the CD3 complex, and impaired proliferative responses to T-cell receptor (TCR)-dependent stimuli. B cells, natural killer (NK) cells, and immunoglobulins are usually normal. Although thymic output of functional naive T cells early in life is decreased, polyclonal expansion of functional memory T cells is substantial. The phenotype in some patients is reminiscent of severe combined immunodeficiency (SCID) (summary by Timon et al. (1993) and Recio et al. (2007)). (615607)

MalaCards based summary : Immunodeficiency 17, also known as scid-like immunodeficiency, t cell-partial, b cell-positive, nk cell-positive, is related to immunodeficiency 19 and granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii. An important gene associated with Immunodeficiency 17 is CD3G (CD3g Molecule), and among its related pathways/superpathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Affiliated tissues include t cells, b cells and nk cells, and related phenotypes are failure to thrive and recurrent respiratory infections

Disease Ontology : 12 A severe combined immunodeficiency that has material basis in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected.

UniProtKB/Swiss-Prot : 75 Immunodeficiency 17: An autosomal recessive primary immunodeficiency characterized by highly variable clinical severity. Some patients have onset of severe recurrent infections in early infancy that may be lethal, whereas others may be only mildly affected or essentially asymptomatic into young adulthood. More severely affected patients may have evidence of autoimmune disease or enteropathy. The immunologic pattern is similar among patients, showing partial T-cell lymphopenia, decreased amounts of the CD3 complex, and impaired proliferative responses to T-cell receptor dependent stimuli. The phenotype in some patients is reminiscent of severe combined immunodeficiency.

Related Diseases for Immunodeficiency 17

Graphical network of the top 20 diseases related to Immunodeficiency 17:



Diseases related to Immunodeficiency 17

Symptoms & Phenotypes for Immunodeficiency 17

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
dermatitis

Head And Neck Ears:
otitis, recurrent

Growth Other:
failure to thrive (in some patients)

Hematology:
autoimmune hemolytic anemia (in some patients)

Respiratory:
respiratory infections, recurrent

Immunology:
primary immunodeficiency
normal t cells
autoimmune features (in some patients)
recurrent infections, bacterial, viral, and fungal
partial t-cell lymphopenia
more
Abdomen Gastrointestinal:
enteropathy (in some patients)
gastroenteritis, recurrent


Clinical features from OMIM:

615607

Human phenotypes related to Immunodeficiency 17:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 occasional (7.5%) HP:0001508
2 recurrent respiratory infections 32 HP:0002205
3 immunodeficiency 32 HP:0002721
4 recurrent otitis media 32 HP:0000403
5 eczema 32 HP:0000964
6 autoimmune hemolytic anemia 32 occasional (7.5%) HP:0001890
7 abnormal intestine morphology 32 occasional (7.5%) HP:0002242
8 decreased proportion of cd8-positive t cells 32 HP:0005415
9 recurrent gastroenteritis 32 HP:0031123

GenomeRNAi Phenotypes related to Immunodeficiency 17 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.35 CD3D CD69 DDX41 PTPRC STAT1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.32 CD3G CD40LG MALT1 STAT1
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.32 CARD9 CD3G CD40LG DDX41 MALT1 STAT1

MGI Mouse Phenotypes related to Immunodeficiency 17:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.61 CARD9 CD3D CD3G CD40LG CD69 DOCK8
2 immune system MP:0005387 9.28 CARD9 CD3D CD3G CD40LG CD69 DOCK8

Drugs & Therapeutics for Immunodeficiency 17

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 17

Genetic Tests for Immunodeficiency 17

Genetic tests related to Immunodeficiency 17:

# Genetic test Affiliating Genes
1 Immunodeficiency 17 29 CD3G

Anatomical Context for Immunodeficiency 17

MalaCards organs/tissues related to Immunodeficiency 17:

41
T Cells, B Cells, Nk Cells, Thymus

Publications for Immunodeficiency 17

Articles related to Immunodeficiency 17:

# Title Authors Year
1
Variable presentation of primary immune deficiency: two cases with CD3 gamma deficiency presenting with only autoimmunity. ( 23590417 )
2013

Variations for Immunodeficiency 17

ClinVar genetic disease variations for Immunodeficiency 17:

6 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 CD3G NM_000073.2(CD3G): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs104894199 GRCh37 Chromosome 11, 118215139: 118215139
2 CD3G NM_000073.2(CD3G): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs104894199 GRCh38 Chromosome 11, 118344424: 118344424
3 CD3G NM_000073.2(CD3G): c.80_96del17 (p.Asn28Valfs) deletion Pathogenic rs483352927 GRCh37 Chromosome 11, 118220458: 118220474
4 CD3G NM_000073.2(CD3G): c.80_96del17 (p.Asn28Valfs) deletion Pathogenic rs483352927 GRCh38 Chromosome 11, 118349743: 118349759
5 CD3G NM_000073.2(CD3G): c.205A> T (p.Lys69Ter) single nucleotide variant Pathogenic rs199676861 GRCh37 Chromosome 11, 118220583: 118220583
6 CD3G NM_000073.2(CD3G): c.205A> T (p.Lys69Ter) single nucleotide variant Pathogenic rs199676861 GRCh38 Chromosome 11, 118349868: 118349868
7 CD3G NM_000073.2(CD3G): c.158T> C (p.Ile53Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs142915569 GRCh37 Chromosome 11, 118220536: 118220536
8 CD3G NM_000073.2(CD3G): c.158T> C (p.Ile53Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs142915569 GRCh38 Chromosome 11, 118349821: 118349821
9 CD3G NM_000073.2(CD3G): c.79+10A> G single nucleotide variant Benign rs115851096 GRCh37 Chromosome 11, 118219775: 118219775
10 CD3G NM_000073.2(CD3G): c.79+10A> G single nucleotide variant Benign rs115851096 GRCh38 Chromosome 11, 118349060: 118349060
11 CD3G NM_000073.2(CD3G): c.390_391delTGinsCT (p.Val131Phe) indel Benign rs71469175 GRCh38 Chromosome 11, 118350634: 118350635
12 CD3G NM_000073.2(CD3G): c.390_391delTGinsCT (p.Val131Phe) indel Benign rs71469175 GRCh37 Chromosome 11, 118221349: 118221350
13 CD3G NM_000073.2(CD3G): c.64G> A (p.Ala22Thr) single nucleotide variant Benign rs139781104 GRCh37 Chromosome 11, 118219750: 118219750
14 CD3G NM_000073.2(CD3G): c.64G> A (p.Ala22Thr) single nucleotide variant Benign rs139781104 GRCh38 Chromosome 11, 118349035: 118349035
15 CD3G NM_000073.2(CD3G): c.170A> C (p.Lys57Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 118220548: 118220548
16 CD3G NM_000073.2(CD3G): c.170A> C (p.Lys57Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 118349833: 118349833
17 CD3G NM_000073.2(CD3G): c.213delA (p.Lys71Asnfs) deletion Pathogenic GRCh37 Chromosome 11, 118220591: 118220591
18 CD3G NM_000073.2(CD3G): c.213delA (p.Lys71Asnfs) deletion Pathogenic GRCh38 Chromosome 11, 118349876: 118349876
19 CD3G NM_000073.2(CD3G): c.56G> A (p.Gly19Asp) single nucleotide variant Likely benign rs146393315 GRCh37 Chromosome 11, 118219742: 118219742
20 CD3G NM_000073.2(CD3G): c.56G> A (p.Gly19Asp) single nucleotide variant Likely benign rs146393315 GRCh38 Chromosome 11, 118349027: 118349027
21 CD3G NM_000073.2(CD3G): c.496C> A (p.Arg166=) single nucleotide variant Benign rs201529449 GRCh38 Chromosome 11, 118352416: 118352416
22 CD3G NM_000073.2(CD3G): c.496C> A (p.Arg166=) single nucleotide variant Benign rs201529449 GRCh37 Chromosome 11, 118223131: 118223131
23 CD3G NM_000073.2(CD3G): c.213dup (p.Trp72Metfs) duplication Pathogenic GRCh38 Chromosome 11, 118349876: 118349876
24 CD3G NM_000073.2(CD3G): c.213dup (p.Trp72Metfs) duplication Pathogenic GRCh37 Chromosome 11, 118220591: 118220591
25 CD3G NM_000073.2(CD3G): c.187G> A (p.Gly63Ser) single nucleotide variant Uncertain significance rs755334490 GRCh37 Chromosome 11, 118220565: 118220565
26 CD3G NM_000073.2(CD3G): c.187G> A (p.Gly63Ser) single nucleotide variant Uncertain significance rs755334490 GRCh38 Chromosome 11, 118349850: 118349850
27 CD3G NM_000073.2(CD3G): c.33C> G (p.Ile11Met) single nucleotide variant Uncertain significance rs143990986 GRCh38 Chromosome 11, 118344456: 118344456
28 CD3G NM_000073.2(CD3G): c.33C> G (p.Ile11Met) single nucleotide variant Uncertain significance rs143990986 GRCh37 Chromosome 11, 118215171: 118215171

Expression for Immunodeficiency 17

Search GEO for disease gene expression data for Immunodeficiency 17.

Pathways for Immunodeficiency 17

Pathways related to Immunodeficiency 17 according to GeneCards Suite gene sharing:

(show all 30)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 CARD9 CD3D CD3G CD40LG DDX41 MALT1
2
Show member pathways
13.21 CD3D CD3G CD40LG MALT1 PTPRC
3
Show member pathways
12.78 CARD9 CD3D CD3G STAT1
4
Show member pathways
12.7 CD3D CD3G MALT1 PTPRC STAT1
5
Show member pathways
12.47 CD3D CD3G CD40LG MALT1 PTPRC STAT1
6
Show member pathways
12.36 CD3D CD3G CD40LG MALT1 PTPRC
7
Show member pathways
12.31 CD3D CD3G STAT1
8 12.28 CARD9 CD40LG MALT1 PTPRC STAT1
9
Show member pathways
12.16 CD3D CD3G MALT1 PTPRC
10
Show member pathways
12.11 CD3D CD3G MALT1 PTPRC
11 12.08 CD3D CD3G STAT1
12 12.02 CARD9 MALT1 STAT1
13
Show member pathways
12 CARD9 MALT1 STAT1
14
Show member pathways
11.96 CD3D CD3G CD40LG MALT1 PTPRC
15 11.88 CD3D CD3G CD40LG
16
Show member pathways
11.79 CD3D CD3G STAT1
17
Show member pathways
11.75 CD3D CD3G PTPRC
18
Show member pathways
11.73 CD3D CD3G CD40LG MALT1 PTPRC
19
Show member pathways
11.66 CD3D CD3G MALT1 PTPRC
20
Show member pathways
11.43 CD3D CD3G STAT1
21 11.4 CD40LG CD69 PTPRC
22 11.38 PTPRC STAT1
23 11.36 CD3D CD3G MALT1 PTPRC
24 11.34 CD3D CD3G
25 11.23 PTPRC STAT1
26 11.18 CD3D CD40LG PTPRC
27 11.16 CD3D CD3G
28 11.12 CD40LG PTPRC
29 11.05 CD3D CD3G
30 10.81 CD3D CD3G PTPRC STAT1

GO Terms for Immunodeficiency 17

Cellular components related to Immunodeficiency 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 clathrin-coated vesicle membrane GO:0030665 9.26 CD3D CD3G
2 T cell receptor complex GO:0042101 9.16 CD3D CD3G
3 external side of plasma membrane GO:0009897 9.02 CD3D CD3G CD40LG CD69 PTPRC
4 alpha-beta T cell receptor complex GO:0042105 8.96 CD3D CD3G

Biological processes related to Immunodeficiency 17 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cell surface receptor signaling pathway GO:0007166 9.69 CD3D CD3G PTPRC
2 regulation of apoptotic process GO:0042981 9.67 CARD9 MALT1 STAT1
3 regulation of immune response GO:0050776 9.63 CD3D CD3G CD40LG
4 defense response to virus GO:0051607 9.56 CARD9 DDX41 PTPRC STAT1
5 positive regulation of tumor necrosis factor production GO:0032760 9.54 CARD9 PTPRC
6 T cell activation GO:0042110 9.52 CD3G PTPRC
7 B cell proliferation GO:0042100 9.48 CD40LG PTPRC
8 leukocyte cell-cell adhesion GO:0007159 9.43 CD40LG PTPRC
9 cellular response to interferon-beta GO:0035458 9.4 DDX41 STAT1
10 T cell proliferation GO:0042098 9.37 MALT1 PTPRC
11 T cell differentiation GO:0030217 9.33 CD3D CD3G PTPRC
12 response to fungus GO:0009620 9.32 CARD9 MALT1
13 T cell receptor signaling pathway GO:0050852 9.26 CD3D CD3G MALT1 PTPRC
14 positive thymic T cell selection GO:0045059 8.8 CD3D CD3G PTPRC

Molecular functions related to Immunodeficiency 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.33 CD3D CD3G CD69
2 protein homodimerization activity GO:0042803 9.1 CARD9 CD3D CD3G CD69 PTPRC STAT1
3 tumor necrosis factor receptor binding GO:0005164 8.96 CD40LG STAT1

Sources for Immunodeficiency 17

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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