IMD18
MCID: IMM082
MIFTS: 42

Immunodeficiency 18 (IMD18)

Categories: Bone diseases, Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 18

MalaCards integrated aliases for Immunodeficiency 18:

Name: Immunodeficiency 18 57 75 29 6 73
Immunodeficiency 18, Severe Combined Immunodeficiency Variant 75 29 6
Immunodeficiency 18, Scid Variant 57 75
Cd3-Epsilon Deficiency 57 75
Cd3epsilon Deficiency 12 15
Imd18 57 75
Immunodeficiency, Type 18 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
immunodeficiency 18:
Onset and clinical course variable expressivity infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615615
Disease Ontology 12 DOID:0060017
MeSH 44 D007153
SNOMED-CT via HPO 69 258211005 48813009 234532001
UMLS 73 C3810127

Summaries for Immunodeficiency 18

OMIM : 57 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 t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta and immunodeficiency 19. 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 TCR Signaling (Qiagen). Affiliated tissues include t cells, bone and b cells, and related phenotypes are recurrent respiratory infections and immunodeficiency

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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Immunodeficiency 18:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 32 HP:0002205
2 immunodeficiency 32 HP:0002721
3 recurrent otitis media 32 HP:0000403
4 lymphopenia 32 very rare (1%) HP:0001888
5 defective t cell proliferation 32 occasional (7.5%) HP:0030253
6 recurrent gastroenteritis 32 HP:0031123
7 decreased proportion of cd3-positive t cells 32 HP:0045080

MGI Mouse Phenotypes related to Immunodeficiency 18:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.43 CD3D CD3E CD3G PTCRA PTPRC TAL1
2 immune system MP:0005387 9.1 CD3D CD3E CD3G PTCRA PTPRC TAL1

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, Severe Combined Immunodeficiency Variant 29
2 Immunodeficiency 18 29 CD3E

Anatomical Context for Immunodeficiency 18

MalaCards organs/tissues related to Immunodeficiency 18:

41
T Cells, Bone, B Cells, Nk Cells, Bone Marrow, Small Intestine

Publications for Immunodeficiency 18

Articles related to Immunodeficiency 18:

# Title Authors Year
1
Thymoma and immunodeficiency: (18)F-FDG-PET/CT imaging of Good syndrome. ( 23687646 )
2013

Variations for Immunodeficiency 18

ClinVar genetic disease variations for Immunodeficiency 18:

6 (show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 CD3E NM_000733.3(CD3E): c.520+2T> C single nucleotide variant Pathogenic rs483352928 GRCh37 Chromosome 11, 118184591: 118184591
2 CD3E NM_000733.3(CD3E): c.520+2T> C single nucleotide variant Pathogenic rs483352928 GRCh38 Chromosome 11, 118313876: 118313876
3 CD3E NM_000733.3(CD3E): c.176G> A (p.Trp59Ter) single nucleotide variant Pathogenic rs121918659 GRCh37 Chromosome 11, 118183405: 118183405
4 CD3E NM_000733.3(CD3E): c.176G> A (p.Trp59Ter) single nucleotide variant Pathogenic rs121918659 GRCh38 Chromosome 11, 118312690: 118312690
5 CD3E NM_000733.3(CD3E): c.128_129delCC (p.Thr43Asnfs) deletion Pathogenic rs483352929 GRCh37 Chromosome 11, 118183357: 118183358
6 CD3E NM_000733.3(CD3E): c.128_129delCC (p.Thr43Asnfs) deletion Pathogenic rs483352929 GRCh38 Chromosome 11, 118312642: 118312643
7 CD3E NM_000733.3(CD3E): c.498G> A (p.Ala166=) single nucleotide variant Benign/Likely benign rs78373007 GRCh37 Chromosome 11, 118184567: 118184567
8 CD3E NM_000733.3(CD3E): c.498G> A (p.Ala166=) single nucleotide variant Benign/Likely benign rs78373007 GRCh38 Chromosome 11, 118313852: 118313852
9 CD3E NM_000733.3(CD3E): c.507C> T (p.Gly169=) single nucleotide variant Conflicting interpretations of pathogenicity rs2231447 GRCh37 Chromosome 11, 118184576: 118184576
10 CD3E NM_000733.3(CD3E): c.507C> T (p.Gly169=) single nucleotide variant Conflicting interpretations of pathogenicity rs2231447 GRCh38 Chromosome 11, 118313861: 118313861
11 CD3E NM_000733.3(CD3E): c.216T> C (p.Asp72=) single nucleotide variant Benign/Likely benign rs2231444 GRCh38 Chromosome 11, 118312730: 118312730
12 CD3E NM_000733.3(CD3E): c.216T> C (p.Asp72=) single nucleotide variant Benign/Likely benign rs2231444 GRCh37 Chromosome 11, 118183445: 118183445
13 CD3E NM_000733.3(CD3E): c.103C> T (p.Pro35Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs143949187 GRCh38 Chromosome 11, 118312170: 118312170
14 CD3E NM_000733.3(CD3E): c.103C> T (p.Pro35Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs143949187 GRCh37 Chromosome 11, 118182885: 118182885
15 CD3E NM_000733.3(CD3E): c.211G> C (p.Asp71His) single nucleotide variant Conflicting interpretations of pathogenicity rs148647954 GRCh37 Chromosome 11, 118183440: 118183440
16 CD3E NM_000733.3(CD3E): c.211G> C (p.Asp71His) single nucleotide variant Conflicting interpretations of pathogenicity rs148647954 GRCh38 Chromosome 11, 118312725: 118312725
17 CD3E NM_000733.3(CD3E): c.54C> T (p.Gly18=) single nucleotide variant Benign rs1126924 GRCh38 Chromosome 11, 118307292: 118307292
18 CD3E NM_000733.3(CD3E): c.54C> T (p.Gly18=) single nucleotide variant Benign rs1126924 GRCh37 Chromosome 11, 118178007: 118178007
19 CD3E NM_000733.3(CD3E): c.580G> A (p.Gly194Ser) single nucleotide variant Uncertain significance rs141553540 GRCh37 Chromosome 11, 118186213: 118186213
20 CD3E NM_000733.3(CD3E): c.580G> A (p.Gly194Ser) single nucleotide variant Uncertain significance rs141553540 GRCh38 Chromosome 11, 118315498: 118315498
21 CD3E NM_000733.3(CD3E): c.323C> T (p.Ala108Val) single nucleotide variant Benign rs35299792 GRCh37 Chromosome 11, 118183552: 118183552
22 CD3E NM_000733.3(CD3E): c.323C> T (p.Ala108Val) single nucleotide variant Benign rs35299792 GRCh38 Chromosome 11, 118312837: 118312837
23 CD3E NM_000733.3(CD3E): c.49+3G> A single nucleotide variant Uncertain significance rs202200315 GRCh37 Chromosome 11, 118175719: 118175719
24 CD3E NM_000733.3(CD3E): c.49+3G> A single nucleotide variant Uncertain significance rs202200315 GRCh38 Chromosome 11, 118305004: 118305004
25 CD3E NM_000733.3(CD3E): c.353-5C> A single nucleotide variant Uncertain significance rs374456909 GRCh37 Chromosome 11, 118184417: 118184417
26 CD3E NM_000733.3(CD3E): c.353-5C> A single nucleotide variant Uncertain significance rs374456909 GRCh38 Chromosome 11, 118313702: 118313702
27 CD3E NM_000733.3(CD3E): c.567+10G> T single nucleotide variant Uncertain significance rs920180688 GRCh38 Chromosome 11, 118314504: 118314504
28 CD3E NM_000733.3(CD3E): c.567+10G> T single nucleotide variant Uncertain significance rs920180688 GRCh37 Chromosome 11, 118185219: 118185219
29 CD3E NM_000733.3(CD3E): c.103+1G> T single nucleotide variant Likely pathogenic rs201543770 GRCh38 Chromosome 11, 118312171: 118312171
30 CD3E NM_000733.3(CD3E): c.103+1G> T single nucleotide variant Likely pathogenic rs201543770 GRCh37 Chromosome 11, 118182886: 118182886

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 40)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.16 CD3D CD3E CD3G PTPRC
2
Show member pathways
12.71 CD3D CD3E CD3G PTPRC
3
Show member pathways
12.66 CD3D CD3E CD3G PTPRC
4
Show member pathways
12.61 CD3D CD3E CD3G
5
Show member pathways
12.54 CD3D CD3E CD3G
6
Show member pathways
12.42 CD3D CD3E CD3G PTPRC
7
Show member pathways
12.38 CD3D CD3E CD3G
8 12.35 CD3E PTPRC TAL1
9
Show member pathways
12.32 CD3D CD3E CD3G
10
Show member pathways
12.27 CD3D CD3E CD3G
11 12.23 CD3D CD3E CD3G
12
Show member pathways
12.22 CD3D CD3E CD3G PTPRC
13
Show member pathways
12.18 CD3D CD3E CD3G PTPRC
14 12.12 CD3D CD3E CD3G
15
Show member pathways
12.11 CD3D CD3E CD3G PTPRC
16
Show member pathways
12.06 CD3D CD3E CD3G PTPRC
17
Show member pathways
12.03 CD3D CD3E CD3G
18
Show member pathways
11.95 CD3D CD3E CD3G
19 11.9 CD3D CD3E CD3G
20
Show member pathways
11.81 CD3D CD3E CD3G
21 11.78 CD3D CD3E CD3G
22
Show member pathways
11.77 CD3D CD3E CD3G
23 11.77 CD3D CD3E CD3G
24 11.73 CD3D CD3E CD3G
25 11.59 CD3D CD3E CD3G
26 11.56 CD3D CD3E CD3G
27 11.54 CD3E PTPRC
28 11.53 CD3E CD3G
29
Show member pathways
11.49 CD3D CD3E CD3G
30
Show member pathways
11.49 CD3D CD3E CD3G PTPRC
31 11.46 CD3D CD3E CD3G
32
Show member pathways
11.45 CD3D CD3E CD3G
33 11.39 CD3E PTPRC
34 11.35 CD3D CD3E CD3G
35
Show member pathways
11.29 CD3D CD3E CD3G PTPRC
36 11.27 CD3D CD3E CD3G PTPRC
37 11.15 CD3D CD3E PTPRC
38 11.04 CD3D CD3E CD3G
39 10.88 CD3D CD3E CD3G
40 10.81 CD3D CD3E CD3G PTPRC

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 9.46 CD3D CD3E CD3G PTPRC
2 clathrin-coated vesicle membrane GO:0030665 9.26 CD3D CD3G
3 T cell receptor complex GO:0042101 9.13 CD3D CD3E CD3G
4 alpha-beta T cell receptor complex GO:0042105 8.8 CD3D CD3E CD3G

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 adaptive immune response GO:0002250 9.69 CD3D CD3E CD3G
2 regulation of immune response GO:0050776 9.67 CD3D CD3E CD3G
3 protein homooligomerization GO:0051260 9.65 CD3D CD3E CD3G
4 cell surface receptor signaling pathway GO:0007166 9.62 CD3D CD3E CD3G PTPRC
5 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.54 CD3E PTPRC
6 positive regulation of T cell proliferation GO:0042102 9.52 CD3E PTPRC
7 regulation of hematopoietic stem cell differentiation GO:1902036 9.46 LMO1 TAL1
8 T cell receptor signaling pathway GO:0050852 9.46 CD3D CD3E CD3G PTPRC
9 positive regulation of interleukin-2 biosynthetic process GO:0045086 9.43 CD3E PTPRC
10 T cell activation GO:0042110 9.43 CD3E CD3G PTPRC
11 negative thymic T cell selection GO:0045060 9.4 CD3E PTPRC
12 positive regulation of alpha-beta T cell proliferation GO:0046641 9.37 CD3E PTPRC
13 T cell differentiation GO:0030217 9.26 CD3D CD3E CD3G PTPRC
14 positive thymic T cell selection GO:0045059 8.92 CD3D CD3E CD3G PTPRC

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

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.62 CD3D CD3E CD3G PTPRC
2 transmembrane signaling receptor activity GO:0004888 9.43 CD3D CD3E CD3G
3 protein heterodimerization activity GO:0046982 9.26 CD3D CD3E CD3G TAL1
4 receptor signaling complex scaffold activity GO:0030159 9.16 CD3E CD3G
5 T cell receptor binding GO:0042608 8.62 CD3E CD3G

Sources for Immunodeficiency 18

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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