MCID: IMM184
MIFTS: 42

Immunodeficiency 17

Categories: Genetic diseases, Blood diseases, Rare diseases, Immune 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 immune defect due to absence of thymus. 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

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.

Disease Ontology : 12 A severe combined immunodeficiency an autosomal recessive immunodeficiency that has material basis in 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.

Related Diseases for Immunodeficiency 17

Diseases related to Immunodeficiency 17 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency 19 10.6 CD3D CD3G
2 immune defect due to absence of thymus 10.4 CD3G CD40LG
3 immunodeficiency with hyper-igm, type 3 10.4 CARD9 CD40LG
4 hyperimmunoglobulin syndrome 10.4 CD40LG DOCK8
5 primary systemic mycosis 10.4 CARD9 CD40LG
6 axillary adenitis 10.2 CD40LG STAT1
7 zika fever 10.2 CD40LG STAT1
8 lung lymphoma 10.2 CD40LG MALT1
9 meningoencephalitis 10.2 CARD9 CD40LG
10 cardiovascular syphilis 10.1 CD40LG DDX41
11 focal chorioretinitis 10.1 CD40LG DDX41
12 marginal zone b-cell lymphoma 10.1 CD40LG MALT1
13 tertiary syphilis 10.1 CD40LG DDX41
14 latent syphilis 10.1 CD40LG DDX41
15 norwegian scabies 10.1 CD40LG STAT1
16 congenital syphilis 10.1 CD40LG DDX41
17 secondary syphilis 10.1 CD40LG DDX41
18 asymptomatic neurosyphilis 10.1 CD40LG DDX41
19 progressive multifocal leukoencephalopathy 10.1 CD40LG STAT1
20 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive 10.0 CD3D PTPRC
21 t cell deficiency 10.0 CD3G PTPRC
22 syphilis 10.0 CD40LG DDX41
23 tertiary neurosyphilis 9.9 CD40LG DDX41
24 coccidioidomycosis 9.9 CARD9 CD40LG STAT1
25 dengue hemorrhagic fever 9.9 CD40LG STAT1
26 opportunistic mycosis 9.9 CARD9 CD40LG STAT1
27 gamma heavy chain disease 9.8 CD40LG PTPRC
28 mumps 9.8 CD40LG STAT1
29 plasma cell neoplasm 9.8 CD40LG PTPRC
30 immunodeficiency 18 9.7 CD3D CD3G PTPRC
31 dendritic cell tumor 9.7 CD69 PTPRC
32 severe acute respiratory syndrome 9.7 CD40LG STAT1
33 mature b-cell neoplasm 9.6 CD40LG PTPRC
34 rabies 9.4 CD40LG STAT1
35 lymphoma, non-hodgkin, familial 9.3 CD40LG MALT1 PTPRC
36 combined immunodeficiency, x-linked 8.7 CD3D CD3G CD40LG DOCK8 PTPRC

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

Variations for Immunodeficiency 17

ClinVar genetic disease variations for Immunodeficiency 17:

6
(show all 22)
# 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 GRCh38 Chromosome 11, 118349876: 118349876
18 CD3G NM_000073.2(CD3G): c.213delA (p.Lys71Asnfs) deletion Pathogenic GRCh37 Chromosome 11, 118220591: 118220591
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

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 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 CARD9 CD3D CD3G CD40LG DDX41 MALT1
2
Show member pathways
13.2 CD3D CD3G CD40LG MALT1 PTPRC
3
Show member pathways
12.77 CARD9 CD3D CD3G STAT1
4
Show member pathways
12.67 CD3D CD3G MALT1 PTPRC STAT1
5
Show member pathways
12.47 CD3D CD3G CD40LG MALT1 PTPRC STAT1
6 12.28 CARD9 CD40LG MALT1 PTPRC STAT1
7
Show member pathways
12.22 CD3D CD3G STAT1
8
Show member pathways
12.13 CD3D CD3G MALT1 PTPRC
9
Show member pathways
12.06 CD3D CD3G MALT1 PTPRC
10 12 CARD9 MALT1 STAT1
11
Show member pathways
11.98 CARD9 MALT1 STAT1
12
Show member pathways
11.96 CD3D CD3G CD40LG MALT1 PTPRC
13
Show member pathways
11.95 CD3D CD3G STAT1
14 11.86 CD3D CD3G CD40LG
15
Show member pathways
11.75 CD3D CD3G STAT1
16
Show member pathways
11.73 CD3D CD3G CD40LG MALT1 PTPRC
17
Show member pathways
11.72 CD3D CD3G PTPRC
18
Show member pathways
11.66 CD3D CD3G MALT1 PTPRC
19 11.38 PTPRC STAT1
20 11.36 CD40LG CD69 PTPRC
21 11.33 CD3D CD3G
22
Show member pathways
11.27 CD3D CD3G
23 11.21 PTPRC STAT1
24 11.15 CD3D CD3G
25 11.15 CD3D CD40LG PTPRC
26 11.1 CD40LG PTPRC
27 11.04 CD3D CD3G
28 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 external side of plasma membrane GO:0009897 9.33 CD40LG CD69 PTPRC
2 clathrin-coated vesicle membrane GO:0030665 9.26 CD3D CD3G
3 T cell receptor complex GO:0042101 8.96 CD3D CD3G
4 alpha-beta T cell receptor complex GO:0042105 8.62 CD3D CD3G

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

# Name GO ID Score Top Affiliating Genes
1 cell surface receptor signaling pathway GO:0007166 9.63 CD3D CD3G PTPRC
2 regulation of immune response GO:0050776 9.54 CD3D CD3G CD40LG
3 T cell differentiation GO:0030217 9.43 CD3D PTPRC
4 B cell proliferation GO:0042100 9.4 CD40LG PTPRC
5 T cell costimulation GO:0031295 9.33 CD3D CD3G CD40LG
6 cellular response to interferon-beta GO:0035458 9.32 DDX41 STAT1
7 response to fungus GO:0009620 9.26 CARD9 MALT1
8 defense response to virus GO:0051607 9.26 CARD9 DDX41 PTPRC STAT1
9 T cell receptor signaling pathway GO:0050852 8.92 CD3D CD3G MALT1 PTPRC

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

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.02 CARD9 CD3D CD3G CD69 STAT1
2 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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