IMD17
MCID: IMM184
MIFTS: 46

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 cd3zeta deficiency and immunodeficiency 19. An important gene associated with Immunodeficiency 17 is CD3G (CD3g Molecule), and among its related pathways/superpathways are TCR Signaling (Qiagen) and Immune response NFAT in immune response. Affiliated tissues include t cells, b cells and nk cells, and related phenotypes are failure to thrive and abnormal intestine morphology

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 39)
# Related Disease Score Top Affiliating Genes
1 cd3zeta deficiency 10.3 CD3G CD3D
2 immunodeficiency 19 10.2 CD3G CD3D
3 immunodeficiency 18 10.2 CD3G CD3D
4 coronin-1a deficiency 10.2 DOCK8 CD3D
5 hyper ige recurrent infection syndrome 1 10.1 PGM3 DOCK8
6 adenosine deaminase deficiency 10.1 RAG2 CD3D
7 janus kinase-3 deficiency 10.1 RAG2 PGM3
8 severe combined immunodeficiency with sensitivity to ionizing radiation 10.0 RAG2 NHEJ1
9 lig4 syndrome 10.0 RAG2 NHEJ1
10 whim syndrome 9.9 HAX1 DOCK8
11 bare lymphocyte syndrome, type i 9.9 DOCK8 CD8A
12 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia 9.8 DOCK8 CD8A
13 immunodeficiency with hyper-igm, type 3 9.8 DOCK8 CD8A
14 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.8 DOCK8 CD8A
15 t cell deficiency 9.8 DOCK8 CD8A
16 chickenpox 9.7 DOCK8 CD8A
17 cd40 ligand deficiency 9.7 DOCK8 CD8A
18 t-cell lymphoblastic leukemia/lymphoma 9.7 RAG2 LCK CD3G
19 nail disease 9.7 DOCK8 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 opportunistic mycosis 9.6 DOCK8 CD8A
30 thymus gland disease 9.6 LCK CD8A
31 thymus cancer 9.5 LCK CD8A
32 b cell deficiency 9.5 RAG2 DOCK8 CD8A
33 fungal infectious disease 9.5 DOCK8 CD8A
34 epidermodysplasia verruciformis 1 9.4 DOCK8 CD8A
35 digeorge syndrome 9.3 RAG2 DOCK8 CD8A
36 bare lymphocyte syndrome, type ii 8.9 RAG2 NHEJ1 DOCK8 CD8A CD3D
37 severe combined immunodeficiency 8.8 RAG2 PGM3 NHEJ1 LCK CD3G CD3D
38 omenn syndrome 8.3 RAG2 PGM3 NHEJ1 DOCK8 CD8A CD3G
39 combined t cell and b cell immunodeficiency 7.9 RAG2 PGM3 NHEJ1 LCK DOCK8 CD8A

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 abnormal intestine morphology 31 occasional (7.5%) HP:0002242
3 autoimmune hemolytic anemia 31 occasional (7.5%) HP:0001890
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 recurrent gastroenteritis 31 HP:0031123
9 decreased proportion of cd8-positive t cells 31 HP:0005415

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin:
dermatitis

Head And Neck Ears:
otitis, recurrent

Abdomen Gastrointestinal:
enteropathy (in some patients)
gastroenteritis, recurrent

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
Growth Other:
failure to thrive (in some patients)

Clinical features from OMIM:

615607

MGI Mouse Phenotypes related to Immunodeficiency 17:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.7 CD3G CD8A HAX1 LCK NHEJ1 PGM3
2 hematopoietic system MP:0005397 9.61 CD3D CD3G CD8A DOCK8 HAX1 LCK
3 immune system MP:0005387 9.28 CD3D CD3G CD8A DOCK8 HAX1 LCK

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. 6 56
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. 6 56
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 47) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.79+10A>GSNV Conflicting interpretations of pathogenicity 474801 rs115851096 11:118219775-118219775 11:118349060-118349060
6 CD3G NM_000073.2(CD3G):c.213del (p.Lys71fs)deletion Conflicting interpretations of pathogenicity 541654 rs570768621 11:118220583-118220583 11:118349868-118349868
7 CD3G NM_000073.2(CD3G):c.56G>A (p.Gly19Asp)SNV Conflicting interpretations of pathogenicity 541656 rs146393315 11:118219742-118219742 11:118349027-118349027
8 CD3G NM_000073.2(CD3G):c.496C>A (p.Arg166=)SNV Conflicting interpretations of pathogenicity 541655 rs201529449 11:118223131-118223131 11:118352416-118352416
9 CD3G NM_000073.2(CD3G):c.158T>C (p.Ile53Thr)SNV Conflicting interpretations of pathogenicity 302681 rs142915569 11:118220536-118220536 11:118349821-118349821
10 CD3G NM_000073.2(CD3G):c.511T>C (p.Tyr171His)SNV Conflicting interpretations of pathogenicity 302686 rs148191859 11:118223146-118223146 11:118352431-118352431
11 CD3G NM_000073.2(CD3G):c.*112C>TSNV Uncertain significance 302687 rs201272612 11:118223927-118223927 11:118353212-118353212
12 CD3G NM_000073.2(CD3G):c.*450T>GSNV Uncertain significance 302691 rs200498090 11:118224265-118224265 11:118353550-118353550
13 CD3G NM_000073.2(CD3G):c.170A>C (p.Lys57Thr)SNV Uncertain significance 541653 rs1555121379 11:118220548-118220548 11:118349833-118349833
14 CD3G NM_000073.2(CD3G):c.32T>C (p.Ile11Thr)SNV Uncertain significance 302680 rs201006956 11:118215170-118215170 11:118344455-118344455
15 CD3G NM_000073.2(CD3G):c.187G>A (p.Gly63Ser)SNV Uncertain significance 572829 rs755334490 11:118220565-118220565 11:118349850-118349850
16 CD3G NM_000073.2(CD3G):c.33C>G (p.Ile11Met)SNV Uncertain significance 580921 rs143990986 11:118215171-118215171 11:118344456-118344456
17 CD3G NM_000073.2(CD3G):c.36G>A (p.Leu12=)SNV Uncertain significance 649896 11:118215174-118215174 11:118344459-118344459
18 CD3G NM_000073.2(CD3G):c.40A>G (p.Ile14Val)SNV Uncertain significance 643291 11:118215178-118215178 11:118344463-118344463
19 CD3G NM_000073.2(CD3G):c.122C>T (p.Ser41Leu)SNV Uncertain significance 661867 11:118220500-118220500 11:118349785-118349785
20 CD3G NM_000073.2(CD3G):c.128T>C (p.Leu43Pro)SNV Uncertain significance 648713 11:118220506-118220506 11:118349791-118349791
21 CD3G NM_000073.2(CD3G):c.273G>C (p.Gln91His)SNV Uncertain significance 640654 11:118220651-118220651 11:118349936-118349936
22 CD3G NM_000073.2(CD3G):c.326A>G (p.Glu109Gly)SNV Uncertain significance 644192 11:118221285-118221285 11:118350570-118350570
23 CD3G NM_000073.2(CD3G):c.389_391delinsTCT (p.Ala130_Val131delinsValPhe)indel Uncertain significance 661539 11:118221348-118221350 11:118350633-118350635
24 CD3G NM_000073.3(CD3G):c.37G>A (p.Ala13Thr)SNV Uncertain significance 845191 11:118215175-118215175 11:118344460-118344460
25 CD3G NM_000073.3(CD3G):c.353T>C (p.Phe118Ser)SNV Uncertain significance 849416 11:118221312-118221312 11:118350597-118350597
26 CD3G NM_000073.3(CD3G):c.79+4G>ASNV Uncertain significance 863273 11:118219769-118219769 11:118349054-118349054
27 CD3G NM_000073.3(CD3G):c.243T>C (p.Pro81=)SNV Uncertain significance 878050 11:118220621-118220621 11:118349906-118349906
28 CD3G NM_000073.3(CD3G):c.467A>G (p.Asn156Ser)SNV Uncertain significance 879514 11:118222370-118222370 11:118351655-118351655
29 CD3G NM_000073.3(CD3G):c.*141G>ASNV Uncertain significance 879515 11:118223956-118223956 11:118353241-118353241
30 CD3G NM_000073.3(CD3G):c.*216C>ASNV Uncertain significance 879516 11:118224031-118224031 11:118353316-118353316
31 CD3G NM_000073.3(CD3G):c.*253G>ASNV Uncertain significance 879878 11:118224068-118224068 11:118353353-118353353
32 CD3G NM_000073.3(CD3G):c.*363C>TSNV Uncertain significance 879879 11:118224178-118224178 11:118353463-118353463
33 CD3G NM_000073.3(CD3G):c.*426T>GSNV Uncertain significance 879880 11:118224241-118224241 11:118353526-118353526
34 CD3G NM_000073.3(CD3G):c.*551C>TSNV Uncertain significance 879881 11:118224366-118224366 11:118353651-118353651
35 CD3G NM_000073.3(CD3G):c.*617G>TSNV Uncertain significance 877939 11:118224432-118224432 11:118353717-118353717
36 CD3G NM_000073.3(CD3G):c.*650C>TSNV Uncertain significance 877940 11:118224465-118224465 11:118353750-118353750
37 CD3G NM_000073.2(CD3G):c.-17G>TSNV Uncertain significance 302679 rs145293635 11:118215122-118215122 11:118344407-118344407
38 CD3G NM_000073.2(CD3G):c.308-4A>GSNV Uncertain significance 302683 rs201296802 11:118221263-118221263 11:118350548-118350548
39 CD3G NM_000073.2(CD3G):c.*500G>ASNV Uncertain significance 302694 rs886047743 11:118224315-118224315 11:118353600-118353600
40 CD3G NM_000073.2(CD3G):c.*308G>ASNV Uncertain significance 302689 rs73018291 11:118224123-118224123 11:118353408-118353408
41 CD3G NM_000073.3(CD3G):c.56-5T>CSNV Likely benign 794659 11:118219737-118219737 11:118349022-118349022
42 CD3G NM_000073.2(CD3G):c.390_391delinsCT (p.Val131Phe)indel Benign 474799 rs71469175 11:118221349-118221350 11:118350634-118350635
43 CD3G NM_000073.2(CD3G):c.64G>A (p.Ala22Thr)SNV Benign 474800 rs139781104 11:118219750-118219750 11:118349035-118349035
44 CD3G NM_000073.2(CD3G):c.*244A>GSNV Benign 302688 rs45508093 11:118224059-118224059 11:118353344-118353344
45 CD3G NM_000073.2(CD3G):c.*453G>TSNV Benign 302693 rs45477194 11:118224268-118224268 11:118353553-118353553
46 CD3G NM_000073.3(CD3G):c.390T>C (p.Ala130=)SNV Benign 302684 rs3753059 11:118221349-118221349 11:118350634-118350634
47 CD3G NM_000073.3(CD3G):c.391G>T (p.Val131Phe)SNV Benign 302685 rs3753058 11:118221350-118221350 11:118350635-118350635

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
12.63 LCK CD8A CD3G CD3D
2
Show member pathways
12.37 LCK CD3G CD3D
3
Show member pathways
12.34 LCK CD3G CD3D
4
Show member pathways
12.3 LCK CD8A CD3G CD3D
5
Show member pathways
12.24 CD8A CD3G CD3D
6
Show member pathways
12.21 LCK CD3G CD3D
7
Show member pathways
12.15 LCK CD3G CD3D
8
Show member pathways
12.1 LCK CD3G CD3D
9 12.08 LCK CD3G CD3D
10
Show member pathways
11.95 LCK CD3G CD3D
11 11.82 CD8A CD3G CD3D
12
Show member pathways
11.76 LCK CD3G CD3D
13
Show member pathways
11.71 LCK CD3G CD3D
14 11.68 LCK CD3G CD3D
15 11.65 CD8A CD3G CD3D
16
Show member pathways
11.61 LCK CD8A CD3G CD3D
17
Show member pathways
11.56 CD3G CD3D
18
Show member pathways
11.49 LCK CD8A CD3G CD3D
19 11.46 LCK CD3G CD3D
20 11.41 LCK CD3G CD3D
21 11.32 CD3G CD3D
22
Show member pathways
11.28 CD8A CD3G CD3D
23 11.14 CD3G CD3D
24 11.11 LCK CD8A CD3G CD3D
25 11.08 LCK CD8A
26 11 CD3G CD3D
27 10.5 RAG2 LCK CD8A 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 9.43 CD8A CD3G CD3D
2 clathrin-coated vesicle membrane GO:0030665 9.16 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 cell surface receptor signaling pathway GO:0007166 9.54 CD8A CD3G CD3D
2 regulation of immune response GO:0050776 9.43 CD8A CD3G CD3D
3 hemopoiesis GO:0030097 9.4 PGM3 LCK
4 T cell receptor signaling pathway GO:0050852 9.33 LCK CD3G CD3D
5 T cell activation GO:0042110 9.32 CD8A CD3G
6 T cell differentiation GO:0030217 9.02 RAG2 NHEJ1 LCK CD3G CD3D
7 positive thymic T cell selection GO:0045059 8.96 CD3G CD3D

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

# Name GO ID Score Top Affiliating Genes
1 T cell receptor binding GO:0042608 8.62 LCK CD3G

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
Content
Loading form....