IMD18
MCID: IMM082
MIFTS: 44

Immunodeficiency 18 (IMD18)

Categories: Bone diseases, Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 18

MalaCards integrated aliases for Immunodeficiency 18:

Name: Immunodeficiency 18 56 73 29 6 71
Immunodeficiency 18, Severe Combined Immunodeficiency Variant 73 29 6
Immunodeficiency 18, Scid Variant 56 73 29
Cd3-Epsilon Deficiency 56 73
Cd3epsilon Deficiency 12 15
Imd18 56 73
Immunodeficiency, Type 18 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
two unrelated families have been reported (last curated january 2014)


HPO:

31
immunodeficiency 18:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0060017
OMIM 56 615615
OMIM Phenotypic Series 56 PS300755
MeSH 43 D007153
SNOMED-CT via HPO 68 234532001 258211005 48813009
UMLS 71 C3810127

Summaries for Immunodeficiency 18

OMIM : 56 Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. The severity is variable, encompassing both a mild immunodeficiency and severe combined immunodeficiency (SCID), resulting in early death without bone marrow transplantation in some patients. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18 (summary by de Saint Basile et al., 2004). (615615)

MalaCards based summary : Immunodeficiency 18, also known as immunodeficiency 18, severe combined immunodeficiency variant, is related to precursor t-cell acute lymphoblastic leukemia and leukemia. An important gene associated with Immunodeficiency 18 is CD3E (CD3e Molecule), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Akt Signaling. Affiliated tissues include t cells, nk cells and b cells, and related phenotypes are defective t cell proliferation and lymphopenia

Disease Ontology : 12 A severe combined immunodeficiency that has material basis in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex.

UniProtKB/Swiss-Prot : 73 Immunodeficiency 18: An autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. The severity is variable, encompassing both a mild immunodeficiency and severe combined immunodeficiency (SCID), resulting in early death without bone marrow transplantation in some patients. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18.

Related Diseases for Immunodeficiency 18

Graphical network of the top 20 diseases related to Immunodeficiency 18:



Diseases related to Immunodeficiency 18

Symptoms & Phenotypes for Immunodeficiency 18

Human phenotypes related to Immunodeficiency 18:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 defective t cell proliferation 31 occasional (7.5%) HP:0030253
2 lymphopenia 31 very rare (1%) HP:0001888
3 recurrent respiratory infections 31 HP:0002205
4 immunodeficiency 31 HP:0002721
5 recurrent otitis media 31 HP:0000403
6 recurrent gastroenteritis 31 HP:0031123
7 decreased proportion of cd3-positive t cells 31 HP:0045080

Symptoms via clinical synopsis from OMIM:

56
Respiratory:
respiratory infections, recurrent

Head And Neck Ears:
otitis media, recurrent

Immunology:
primary immunodeficiency
normal b cells
decreased cd3 expression on t cells
decreased cytotoxic t cell activity
variably impaired t-cell proliferative responses
more
Abdomen Gastrointestinal:
gastroenteritis, recurrent

Clinical features from OMIM:

615615

MGI Mouse Phenotypes related to Immunodeficiency 18:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.55 CD247 CD3E CD3G PTCRA RAG1
2 hematopoietic system MP:0005397 9.5 CD247 CD3D CD3E CD3G PTCRA RAG1
3 immune system MP:0005387 9.17 CD247 CD3D CD3E CD3G PTCRA RAG1

Drugs & Therapeutics for Immunodeficiency 18

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 18

Genetic Tests for Immunodeficiency 18

Genetic tests related to Immunodeficiency 18:

# Genetic test Affiliating Genes
1 Immunodeficiency 18 29 CD3E
2 Immunodeficiency 18, Severe Combined Immunodeficiency Variant 29
3 Immunodeficiency 18, Scid Variant 29

Anatomical Context for Immunodeficiency 18

MalaCards organs/tissues related to Immunodeficiency 18:

40
T Cells, Nk Cells, B Cells, Bone Marrow, Bone

Publications for Immunodeficiency 18

Articles related to Immunodeficiency 18:

# Title Authors PMID Year
1
Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency. 6 56
8490660 1993
2
Structural analysis of low TCR-CD3 complex expression in T cells of an immunodeficient patient. 6 56
1370449 1992
3
Immunodeficiency with low expression of the T cell receptor/CD3 complex. Effect on T lymphocyte activation. 56 6
1676369 1991
4
Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. 56
15546002 2004
5
Specific requirement for CD3epsilon in T cell development. 6
9843989 1998
6
Thymoma and immunodeficiency: (18)F-FDG-PET/CT imaging of Good syndrome. 61
23687646 2013
7
Bacteroides infections in children. 61
7629859 1995

Variations for Immunodeficiency 18

ClinVar genetic disease variations for Immunodeficiency 18:

6 (show top 50) (show all 57) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CD3E NM_000733.4(CD3E):c.261_262del (p.Ser88fs)deletion Pathogenic 847887 11:118183488-118183489 11:118312773-118312774
2 CD3E NM_000733.4(CD3E):c.490C>T (p.Arg164Ter)SNV Pathogenic 847888 11:118184559-118184559 11:118313844-118313844
3 CD3E NM_000733.3(CD3E):c.520+2T>CSNV Pathogenic 12744 rs483352928 11:118184591-118184591 11:118313876-118313876
4 CD3E NM_000733.3(CD3E):c.176G>A (p.Trp59Ter)SNV Pathogenic 12745 rs121918659 11:118183405-118183405 11:118312690-118312690
5 CD3E NM_000733.3(CD3E):c.128_129del (p.Thr43fs)deletion Pathogenic 12746 rs483352929 11:118183357-118183358 11:118312642-118312643
6 CD3E NM_000733.4(CD3E):c.103+1G>ASNV Likely pathogenic 835442 11:118182886-118182886 11:118312171-118312171
7 CD3E NM_000733.3(CD3E):c.103+1G>TSNV Likely pathogenic 570046 rs201543770 11:118182886-118182886 11:118312171-118312171
8 CD3E NM_000733.3(CD3E):c.470C>T (p.Ala157Val)SNV Conflicting interpretations of pathogenicity 496074 rs140639753 11:118184539-118184539 11:118313824-118313824
9 CD3E NM_000733.3(CD3E):c.211G>C (p.Asp71His)SNV Conflicting interpretations of pathogenicity 302662 rs148647954 11:118183440-118183440 11:118312725-118312725
10 CD3E NM_000733.3(CD3E):c.458A>C (p.Lys153Thr)SNV Uncertain significance 302663 rs200258299 11:118184527-118184527 11:118313812-118313812
11 CD3E NM_000733.3(CD3E):c.*441C>TSNV Uncertain significance 302667 rs886047736 11:118186698-118186698 11:118315983-118315983
12 CD3E NM_000733.3(CD3E):c.-166G>ASNV Uncertain significance 302656 rs886047735 11:118175385-118175385 11:118304670-118304670
13 CD3E NM_000733.3(CD3E):c.580G>A (p.Gly194Ser)SNV Uncertain significance 302664 rs141553540 11:118186213-118186213 11:118315498-118315498
14 CD3E NM_000733.3(CD3E):c.*535C>GSNV Uncertain significance 302668 rs200286219 11:118186792-118186792 11:118316077-118316077
15 CD3E NM_000733.3(CD3E):c.-73T>CSNV Uncertain significance 302658 rs867899567 11:118175478-118175478 11:118304763-118304763
16 CD3E NM_000733.3(CD3E):c.73A>G (p.Asn25Asp)SNV Uncertain significance 302660 rs201867379 11:118179144-118179144 11:118308429-118308429
17 CD3E NM_000733.3(CD3E):c.49+3G>ASNV Uncertain significance 541658 rs202200315 11:118175719-118175719 11:118305004-118305004
18 CD3E NM_000733.3(CD3E):c.353-5C>ASNV Uncertain significance 541657 rs374456909 11:118184417-118184417 11:118313702-118313702
19 CD3E NM_000733.3(CD3E):c.567+10G>TSNV Uncertain significance 569657 rs920180688 11:118185219-118185219 11:118314504-118314504
20 CD3E NM_000733.4(CD3E):c.292T>C (p.Cys98Arg)SNV Uncertain significance 862305 11:118183521-118183521 11:118312806-118312806
21 CD3E NM_000733.4(CD3E):c.360G>C (p.Glu120Asp)SNV Uncertain significance 860753 11:118184429-118184429 11:118313714-118313714
22 CD3E NM_000733.4(CD3E):c.500G>T (p.Gly167Val)SNV Uncertain significance 856082 11:118184569-118184569 11:118313854-118313854
23 CD3E NM_000733.4(CD3E):c.17A>C (p.His6Pro)SNV Uncertain significance 841090 11:118175684-118175684 11:118304969-118304969
24 CD3E NM_000733.4(CD3E):c.202G>A (p.Gly68Ser)SNV Uncertain significance 838943 11:118183431-118183431 11:118312716-118312716
25 CD3E NM_000733.3(CD3E):c.499G>A (p.Gly167Ser)SNV Uncertain significance 645439 11:118184568-118184568 11:118313853-118313853
26 CD3E NM_000733.3(CD3E):c.575G>A (p.Arg192Gln)SNV Uncertain significance 646469 11:118186208-118186208 11:118315493-118315493
27 CD3E NM_000733.3(CD3E):c.617G>A (p.Arg206His)SNV Uncertain significance 652168 11:118186250-118186250 11:118315535-118315535
28 CD3E NM_000733.3(CD3E):c.298C>A (p.Pro100Thr)SNV Uncertain significance 646902 11:118183527-118183527 11:118312812-118312812
29 CD3E NM_000733.4(CD3E):c.82A>C (p.Met28Leu)SNV Uncertain significance 877840 11:118179153-118179153 11:118308438-118308438
30 CD3E NM_000733.4(CD3E):c.408G>A (p.Val136=)SNV Uncertain significance 877842 11:118184477-118184477 11:118313762-118313762
31 CD3E NM_000733.4(CD3E):c.441G>A (p.Leu147=)SNV Uncertain significance 877998 11:118184510-118184510 11:118313795-118313795
32 CD3E NM_000733.4(CD3E):c.611A>G (p.Gln204Arg)SNV Uncertain significance 877999 11:118186244-118186244 11:118315529-118315529
33 CD3E NM_000733.4(CD3E):c.*196C>GSNV Uncertain significance 878000 11:118186453-118186453 11:118315738-118315738
34 CD3E NM_000733.4(CD3E):c.*247C>TSNV Uncertain significance 879461 11:118186504-118186504 11:118315789-118315789
35 CD3E NM_000733.4(CD3E):c.*311C>TSNV Uncertain significance 879462 11:118186568-118186568 11:118315853-118315853
36 CD3E NM_000733.4(CD3E):c.*383C>TSNV Uncertain significance 879463 11:118186640-118186640 11:118315925-118315925
37 CD3E NM_000733.4(CD3E):c.530del (p.Lys177fs)deletion Uncertain significance 855359 11:118185171-118185171 11:118314456-118314456
38 CD3E NC_000011.10:g.118316181T>CSNV Uncertain significance 879823 11:118186896-118186896 11:118316181-118316181
39 CD3E NM_000733.4(CD3E):c.*522C>GSNV Uncertain significance 879465 11:118186779-118186779 11:118316064-118316064
40 CD3E NM_000733.4(CD3E):c.*557T>CSNV Uncertain significance 879466 11:118186814-118186814 11:118316099-118316099
41 CD3E NM_000733.4(CD3E):c.*559G>CSNV Uncertain significance 879821 11:118186816-118186816 11:118316101-118316101
42 CD3E NM_000733.4(CD3E):c.*604G>TSNV Uncertain significance 879822 11:118186861-118186861 11:118316146-118316146
43 CD3E NM_000733.4(CD3E):c.353-11A>TSNV Likely benign 877841 11:118184411-118184411 11:118313696-118313696
44 CD3E NM_000733.4(CD3E):c.*410A>GSNV Likely benign 879464 11:118186667-118186667 11:118315952-118315952
45 CD3E NM_000733.4(CD3E):c.103+10T>CSNV Likely benign 744708 11:118182895-118182895 11:118312180-118312180
46 CD3E NM_000733.4(CD3E):c.567+6G>ASNV Likely benign 739300 11:118185215-118185215 11:118314500-118314500
47 CD3E NM_000733.4(CD3E):c.27T>G (p.Val9=)SNV Likely benign 757751 11:118175694-118175694 11:118304979-118304979
48 CD3E NM_000733.4(CD3E):c.297C>T (p.Tyr99=)SNV Likely benign 792968 11:118183526-118183526 11:118312811-118312811
49 CD3E NM_000733.3(CD3E):c.103C>T (p.Pro35Ser)SNV Benign/Likely benign 302661 rs143949187 11:118182885-118182885 11:118312170-118312170
50 CD3E NM_000733.3(CD3E):c.498G>A (p.Ala166=)SNV Benign/Likely benign 35806 rs78373007 11:118184567-118184567 11:118313852-118313852

Expression for Immunodeficiency 18

Search GEO for disease gene expression data for Immunodeficiency 18.

Pathways for Immunodeficiency 18

Pathways related to Immunodeficiency 18 according to GeneCards Suite gene sharing:

(show all 43)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.17 CD3G CD3E CD3D CD247
2
Show member pathways
13.13 CD3G CD3E CD3D CD247
3
Show member pathways
13.07 CD3G CD3E CD3D CD247
4
Show member pathways
12.87 CD3G CD3E CD3D CD247
5
Show member pathways
12.85 CD3G CD3E CD3D CD247
6
Show member pathways
12.78 CD3G CD3E CD3D CD247
7
Show member pathways
12.75 CD3G CD3E CD3D CD247
8
Show member pathways
12.73 CD3G CD3E CD3D CD247
9
Show member pathways
12.7 CD3G CD3E CD3D CD247
10
Show member pathways
12.68 CD3G CD3E CD3D CD247
11
Show member pathways
12.68 CD3G CD3E CD3D CD247
12
Show member pathways
12.64 CD3G CD3E CD3D CD247
13
Show member pathways
12.48 CD3G CD3E CD3D CD247
14
Show member pathways
12.45 CD3G CD3E CD3D CD247
15
Show member pathways
12.44 CD3G CD3E CD3D CD247
16 12.37 TAL1 RAG1 CD3E
17
Show member pathways
12.35 CD3G CD3E CD3D CD247
18
Show member pathways
12.28 CD3G CD3E CD3D
19
Show member pathways
12.27 CD3G CD3E CD3D CD247
20
Show member pathways
12.23 CD3G CD3E CD3D CD247
21 12.18 CD3G CD3E CD3D
22
Show member pathways
12.11 CD3G CD3E CD3D CD247
23 11.97 CD3G CD3E CD3D CD247
24
Show member pathways
11.91 CD3G CD3E CD3D CD247
25
Show member pathways
11.86 CD3G CD3E CD3D CD247
26 11.85 CD3G CD3E CD3D CD247
27 11.84 CD3G CD3E CD3D CD247
28
Show member pathways
11.83 CD3G CD3E CD3D CD247
29
Show member pathways
11.81 CD3G CD3E CD3D CD247
30 11.8 CD3G CD3E CD3D
31 11.69 CD3G CD3E
32 11.61 CD3G CD3E CD3D CD247
33 11.57 CD3G CD3E CD3D CD247
34
Show member pathways
11.52 CD3G CD3E CD3D CD247
35 11.52 CD3G CD3E CD3D CD247
36
Show member pathways
11.43 CD3G CD247
37
Show member pathways
11.42 CD3G CD3E CD3D CD247
38
Show member pathways
11.41 CD3G CD3E CD3D CD247
39 11.33 RAG1 CD3E CD3D
40 11.26 CD3G CD3E CD3D CD247
41 11.08 CD3E CD247
42 10.8 CD3G CD3E CD3D CD247
43 10.37 CD3G CD3E CD3D CD247

GO Terms for Immunodeficiency 18

Cellular components related to Immunodeficiency 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.43 CD3G CD3E CD3D
2 T cell receptor complex GO:0042101 9.26 CD3G CD3E CD3D CD247
3 clathrin-coated vesicle membrane GO:0030665 9.16 CD3G CD3D
4 alpha-beta T cell receptor complex GO:0042105 8.92 CD3G CD3E CD3D CD247

Biological processes related to Immunodeficiency 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.73 CD3G CD3E CD3D CD247
2 cell surface receptor signaling pathway GO:0007166 9.67 CD3G CD3E CD3D CD247
3 regulation of immune response GO:0050776 9.62 CD3G CD3E CD3D CD247
4 T cell activation GO:0042110 9.48 CD3G CD3E
5 T cell differentiation in thymus GO:0033077 9.46 RAG1 CD3E
6 T cell receptor signaling pathway GO:0050852 9.46 CD3G CD3E CD3D CD247
7 T cell differentiation GO:0030217 9.43 CD3G CD3E CD3D
8 negative regulation of thymocyte apoptotic process GO:0070244 9.4 RAG1 PTCRA
9 adaptive immune response GO:0002250 9.35 RAG1 CD3G CD3E CD3D CD247
10 positive thymic T cell selection GO:0045059 8.8 CD3G CD3E CD3D

Molecular functions related to Immunodeficiency 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.55 RAG1 CD3G CD3E CD3D CD247
2 protein heterodimerization activity GO:0046982 9.5 CD3G CD3E CD3D
3 receptor signaling complex scaffold activity GO:0030159 9.26 CD3G CD3E
4 T cell receptor binding GO:0042608 8.96 CD3G CD3E
5 transmembrane signaling receptor activity GO:0004888 8.92 CD3G CD3E CD3D CD247

Sources for Immunodeficiency 18

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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