IMD17
MCID: IMM184
MIFTS: 44

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 56 73 29 6 71
Scid-Like Immunodeficiency, T Cell-Partial, B Cell-Positive, Nk Cell-Positive 56 73
Immunodeficiency 17, Cd3 Gamma Deficient 56 29
Cd3-Gamma Deficiency 56 73
Cd3gamma Deficiency 12 15
Imd17 56 73
Combined Immunodeficiency Due to Cd3gamma Deficiency 58
Immunodeficiency, Type 17 39

Characteristics:

Orphanet epidemiological data:

58
combined immunodeficiency due to cd3gamma deficiency
Inheritance: Autosomal recessive;

OMIM:

56
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:

31
immunodeficiency 17:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0060018
OMIM 56 615607
OMIM Phenotypic Series 56 PS300755
MeSH 43 D007153
ICD10 via Orphanet 33 D81.2
Orphanet 58 ORPHA169082
UMLS 71 C3810107

Summaries for Immunodeficiency 17

OMIM : 56 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, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia and t cell deficiency. An important gene associated with Immunodeficiency 17 is CD3G (CD3g Molecule), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Allograft rejection. Affiliated tissues include t cells, b cells and nk cells, and related phenotypes are failure to thrive and autoimmune hemolytic anemia

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 : 73 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

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, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia 9.9 DOCK8 CD8A
2 t cell deficiency 9.9 DOCK8 CD8A
3 anemia, autoimmune hemolytic 9.9 DOCK8 CD8A
4 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.9 DOCK8 CD8A
5 esophageal candidiasis 9.9 CD8A CARD9
6 chickenpox 9.9 DOCK8 CD8A
7 blastomycosis 9.9 CD8A CARD9
8 uveoparotid fever 9.9 CD8A CARD9
9 hyper ige recurrent infection syndrome 1 9.9 DOCK8 CARD9
10 primary systemic mycosis 9.8 CD8A CARD9
11 vaginal disease 9.8 CD8A CARD9
12 b cell deficiency 9.8 DOCK8 CD8A
13 oral candidiasis 9.8 CD8A CARD9
14 combined t cell and b cell immunodeficiency 9.7 DOCK8 CD8A
15 mastoiditis 9.7 MALT1 DOCK8
16 meningoencephalitis 9.7 CD8A CARD9
17 immunodeficiency 18 9.7 CD8A CD3G CD3D
18 immunodeficiency 19 9.7 CD8A CD3G CD3D
19 duodenitis 9.7 MALT1 CD8A
20 thrombocytopenic purpura, autoimmune 9.7
21 immune deficiency disease 9.7
22 bacterial infectious disease 9.7
23 giardiasis 9.7
24 common variable immunodeficiency 9.7
25 agammaglobulinemia 9.7
26 purpura 9.7
27 lymphopenia 9.7
28 splenomegaly 9.7
29 bare lymphocyte syndrome, type ii 9.7 DOCK8 CD8A
30 epidermodysplasia verruciformis 1 9.6 DOCK8 CD8A
31 lymphoid interstitial pneumonia 9.6 MALT1 CD8A
32 nail disease 9.5 DOCK8 CD8A CARD9
33 opportunistic mycosis 9.5 DOCK8 CD8A CARD9
34 x-linked recessive disease 9.5 DOCK8 CD8A
35 chronic mucocutaneous candidiasis 8.9 MALT1 DOCK8 CD8A CARD9
36 omenn syndrome 8.7 MALT1 DOCK8 CD8A CD3G CD3D

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



Diseases related to Immunodeficiency 17

Symptoms & Phenotypes for Immunodeficiency 17

Human phenotypes related to Immunodeficiency 17:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 occasional (7.5%) HP:0001508
2 autoimmune hemolytic anemia 31 occasional (7.5%) HP:0001890
3 abnormal intestine morphology 31 occasional (7.5%) HP:0002242
4 recurrent respiratory infections 31 HP:0002205
5 immunodeficiency 31 HP:0002721
6 recurrent otitis media 31 HP:0000403
7 eczema 31 HP:0000964
8 decreased proportion of cd8-positive t cells 31 HP:0005415
9 recurrent gastroenteritis 31 HP:0031123

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Immunodeficiency 17:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.43 CARD9 CD3D CD3G CD8A DOCK8 MALT1
2 immune system MP:0005387 9.1 CARD9 CD3D CD3G CD8A DOCK8 MALT1

Drugs & Therapeutics for Immunodeficiency 17

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 2 Clinical Trial To Evaluate The Immune Restoration Potential Of Lenalidomide For Patients With CLL-Associated Immunodeficiency Withdrawn NCT02371577 Phase 2 Lenalidomide

Search 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
2 Immunodeficiency 17, Cd3 Gamma Deficient 29

Anatomical Context for Immunodeficiency 17

MalaCards organs/tissues related to Immunodeficiency 17:

40
T Cells, B Cells, Nk Cells, Thymus, Pituitary

Publications for Immunodeficiency 17

Articles related to Immunodeficiency 17:

(show all 11)
# Title Authors PMID Year
1
Differential biological role of CD3 chains revealed by human immunodeficiencies. 56 6
17277165 2007
2
Brief report: primary immunodeficiency caused by mutations in the gene encoding the CD3-gamma subunit of the T-lymphocyte receptor. 56 6
1635567 1992
3
Biochemical basis of a novel T lymphocyte receptor immunodeficiency by immunohistochemistry. A possible CD3 gamma abnormality. 56 6
1709425 1991
4
Selective disbalances of peripheral blood T lymphocyte subsets in human CD3 gamma deficiency. 56
8325321 1993
5
Expression and function of a variant T cell receptor complex lacking CD3-gamma. 56
1713248 1991
6
Familial defect in the surface expression of the T-cell receptor-CD3 complex. 56
3262828 1988
7
Familial defect of CD3 (T3) expression by T cells associated with rare gut epithelial cell autoantibodies. 56
2872416 1986
8
Intermedin promotes hepatocellular carcinoma cell proliferation through the classical Wnt signaling pathway. 61
29563999 2018
9
Downregulation of endogenous intermedin augmented myocardial injury in rats with ischemia/reperfusion. 61
23018870 2013
10
Intermedin 17-47 does not function as a full intermedin antagonist within the central nervous system or pituitary. 61
17945397 2007
11
[Common variable immunodeficiency: 17 observations in the adult]. 61
14550517 2003

Variations for Immunodeficiency 17

ClinVar genetic disease variations for Immunodeficiency 17:

6 (show all 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CD3G NM_000073.2(CD3G):c.213dup (p.Trp72fs)duplication Pathogenic 580586 rs570768621 11:118220582-118220583 11:118349867-118349868
2 CD3G NM_000073.2(CD3G):c.1A>G (p.Met1Val)SNV Pathogenic 12753 rs104894199 11:118215139-118215139 11:118344424-118344424
3 CD3G NM_000073.2(CD3G):c.80_96deldeletion Pathogenic 12754 rs483352927 11:118220456-118220472 11:118349741-118349757
4 CD3G NM_000073.2(CD3G):c.205A>T (p.Lys69Ter)SNV Pathogenic 100626 rs199676861 11:118220583-118220583 11:118349868-118349868
5 CD3G NM_000073.2(CD3G):c.213del (p.Lys71fs)deletion Conflicting interpretations of pathogenicity 541654 rs570768621 11:118220583-118220583 11:118349868-118349868
6 CD3G NM_000073.2(CD3G):c.170A>C (p.Lys57Thr)SNV Uncertain significance 541653 rs1555121379 11:118220548-118220548 11:118349833-118349833
7 CD3G NM_000073.2(CD3G):c.187G>A (p.Gly63Ser)SNV Uncertain significance 572829 rs755334490 11:118220565-118220565 11:118349850-118349850
8 CD3G NM_000073.2(CD3G):c.33C>G (p.Ile11Met)SNV Uncertain significance 580921 rs143990986 11:118215171-118215171 11:118344456-118344456
9 CD3G NM_000073.2(CD3G):c.36G>A (p.Leu12=)SNV Uncertain significance 649896 11:118215174-118215174 11:118344459-118344459
10 CD3G NM_000073.2(CD3G):c.40A>G (p.Ile14Val)SNV Uncertain significance 643291 11:118215178-118215178 11:118344463-118344463
11 CD3G NM_000073.2(CD3G):c.122C>T (p.Ser41Leu)SNV Uncertain significance 661867 11:118220500-118220500 11:118349785-118349785
12 CD3G NM_000073.2(CD3G):c.128T>C (p.Leu43Pro)SNV Uncertain significance 648713 11:118220506-118220506 11:118349791-118349791
13 CD3G NM_000073.2(CD3G):c.273G>C (p.Gln91His)SNV Uncertain significance 640654 11:118220651-118220651 11:118349936-118349936
14 CD3G NM_000073.2(CD3G):c.326A>G (p.Glu109Gly)SNV Uncertain significance 644192 11:118221285-118221285 11:118350570-118350570
15 CD3G NM_000073.2(CD3G):c.389_391delinsTCT (p.Ala130_Val131delinsValPhe)indel Uncertain significance 661539 11:118221348-118221350 11:118350633-118350635

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 27)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.1 MALT1 CD8A CD3G CD3D
2
Show member pathways
12.53 CD8A CD3G CD3D
3
Show member pathways
12.51 MALT1 CD8A CD3G CD3D
4
Show member pathways
12.32 MALT1 CD3G CD3D
5 12.26 MALT1 CD8A CARD9
6
Show member pathways
12.15 CD8A CD3G CD3D
7
Show member pathways
12.1 MALT1 CD8A CD3G CD3D
8
Show member pathways
12.05 MALT1 CD3G CD3D
9
Show member pathways
12 MALT1 CD3G CD3D
10
Show member pathways
11.96 MALT1 CD3G CD3D
11
Show member pathways
11.76 CD3G CD3D
12 11.71 CD8A CD3G CD3D
13
Show member pathways
11.67 CD3G CD3D
14
Show member pathways
11.6 CD8A CD3G CD3D
15
Show member pathways
11.51 CD3G CD3D
16 11.49 CD3G CD3D
17 11.49 CD8A CD3G CD3D
18 11.47 CD3G CD3D
19 11.45 MALT1 CD3G
20
Show member pathways
11.32 CD3G CD3D
21 11.27 CD3G CD3D
22 11.18 CD8A CD3G CD3D
23 11.14 CD8A CD3D
24 11.08 CD3G CD3D
25 10.96 CD3G CD3D
26
Show member pathways
10.96 MALT1 CD8A CD3G CD3D
27
Show member pathways
10.92 CD8A CD3G CD3D

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 CD8A CD3G CD3D
2 clathrin-coated vesicle membrane GO:0030665 9.26 CD3G CD3D
3 T cell receptor complex GO:0042101 9.13 CD8A CD3G CD3D
4 alpha-beta T cell receptor complex GO:0042105 8.62 CD3G CD3D

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

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.56 CD8A CD3G CD3D CARD9
2 cell surface receptor signaling pathway GO:0007166 9.54 CD8A CD3G CD3D
3 regulation of immune response GO:0050776 9.5 CD8A CD3G CD3D
4 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.48 MALT1 CARD9
5 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.46 MALT1 CARD9
6 T cell activation GO:0042110 9.43 CD8A CD3G
7 T cell differentiation GO:0030217 9.4 CD3G CD3D
8 T cell receptor signaling pathway GO:0050852 9.33 MALT1 CD3G CD3D
9 positive thymic T cell selection GO:0045059 8.96 CD3G CD3D
10 response to fungus GO:0009620 8.62 MALT1 CARD9

Sources for Immunodeficiency 17

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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