MCID: IMM081
MIFTS: 41

Immunodeficiency 19

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 19

MalaCards integrated aliases for Immunodeficiency 19:

Name: Immunodeficiency 19 53 71 28 69
Cd3-Delta Deficiency 53 71
Cd3delta Deficiency 12 14
Imd19 53 71
Severe Combined Immunodeficiency, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 53
T Cell-Negative, B Cell-Positive, Nk Cell-Positive Severe Combined Immunodeficiency 71
Scid, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 53
T Cell-Negative, B Cell-Positive, Nk Cell-Positive Scid 71
Cd3d 12

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
death in infancy without bone marrow transplantation


HPO:

31
immunodeficiency 19:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 615617
Disease Ontology 12 DOID:0060016
MeSH 41 D007153
UMLS 69 C3810147

Summaries for Immunodeficiency 19

OMIM : 53 Immunodeficiency-19 (IMD19) is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype. The disorder is lethal in early childhood without bone marrow transplantation (summary by Yu et al., 2011). (615617)

MalaCards based summary : Immunodeficiency 19, also known as cd3-delta deficiency, is related to severe combined immunodeficiency and combined immunodeficiency, x-linked, and has symptoms including diarrhea, failure to thrive and recurrent respiratory infections. An important gene associated with Immunodeficiency 19 is CD3D (CD3d Molecule), and among its related pathways/superpathways are Innate Immune System and GPCR Pathway. Affiliated tissues include b cells, t cells and nk cells, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development.

UniProtKB/Swiss-Prot : 71 Immunodeficiency 19: An autosomal recessive form of severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T-cell negative, B-cell positive, NK-cell positive phenotype.

Related Diseases for Immunodeficiency 19

Graphical network of the top 20 diseases related to Immunodeficiency 19:



Diseases related to Immunodeficiency 19

Symptoms & Phenotypes for Immunodeficiency 19

Symptoms via clinical synopsis from OMIM:

53
Abdomen Gastroin testinal:
diarrhea
gastroenteritis

Immunology:
lymphopenia
primary immunodeficiency
recurrent infections, bacterial, viral, and fungal
normal b cells
normal nk cells
more
Head And Neck Ears:
otitis media, recurrent

Growth Other:
failure to thrive

Respiratory:
respiratory infections, recurrent

Head And Neck Mouth:
thrush


Clinical features from OMIM:

615617

Human phenotypes related to Immunodeficiency 19:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 diarrhea 31 HP:0002014
2 failure to thrive 31 HP:0001508
3 recurrent respiratory infections 31 HP:0002205
4 immunodeficiency 31 HP:0002721
5 recurrent otitis media 31 HP:0000403
6 lymphopenia 31 HP:0001888

UMLS symptoms related to Immunodeficiency 19:


diarrhea

GenomeRNAi Phenotypes related to Immunodeficiency 19 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 9.1 ZAP70
2 Decreased viability GR00221-A-1 9.1 ZAP70
3 Decreased viability GR00221-A-2 9.1 ZAP70
4 Decreased viability GR00342-S-1 9.1 ZAP70
5 Decreased viability GR00342-S-2 9.1 IKBKB ZAP70

MGI Mouse Phenotypes related to Immunodeficiency 19:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.46 ZAP70 CD3G IKBKB JAK3
2 hematopoietic system MP:0005397 9.35 CD3D CD3G IKBKB JAK3 ZAP70
3 immune system MP:0005387 9.02 CD3D CD3G IKBKB JAK3 ZAP70

Drugs & Therapeutics for Immunodeficiency 19

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 19

Genetic Tests for Immunodeficiency 19

Genetic tests related to Immunodeficiency 19:

# Genetic test Affiliating Genes
1 Immunodeficiency 19 28 CD3D

Anatomical Context for Immunodeficiency 19

MalaCards organs/tissues related to Immunodeficiency 19:

38
B Cells, T Cells, Nk Cells, Bone, Bone Marrow

Publications for Immunodeficiency 19

Articles related to Immunodeficiency 19:

# Title Authors Year
1
Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency. ( 14602880 )
2003

Variations for Immunodeficiency 19

ClinVar genetic disease variations for Immunodeficiency 19:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CD3D NM_000732.4(CD3D): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs111033580 GRCh37 Chromosome 11, 118211162: 118211162
2 CD3D NM_000732.4(CD3D): c.279C> A (p.Cys93Ter) single nucleotide variant Pathogenic rs111033581 GRCh37 Chromosome 11, 118210617: 118210617
3 CD3D NM_000732.4(CD3D): c.274+5G> A single nucleotide variant Pathogenic rs730880296 GRCh38 Chromosome 11, 118340370: 118340370

Expression for Immunodeficiency 19

Search GEO for disease gene expression data for Immunodeficiency 19.

Pathways for Immunodeficiency 19

Pathways related to Immunodeficiency 19 according to GeneCards Suite gene sharing:

(show all 42)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.66 CD3D CD3G IKBKB JAK3 ZAP70
2
Show member pathways
13.39 CD3D CD3G IKBKB JAK3 ZAP70
3
Show member pathways
13.32 CD3D CD3G IKBKB JAK3
4
Show member pathways
13.14 CD3D CD3G IKBKB ZAP70
5
Show member pathways
13.1 CD3D CD3G IKBKB JAK3 ZAP70
6
Show member pathways
12.75 CD3D CD3G ZAP70
7
Show member pathways
12.66 CD3D CD3G IKBKB JAK3
8
Show member pathways
12.64 CD3D CD3G IKBKB ZAP70
9
Show member pathways
12.56 CD3D CD3G IKBKB JAK3
10
Show member pathways
12.41 CD3D CD3G IKBKB ZAP70
11 12.34 IKBKB JAK3 ZAP70
12
Show member pathways
12.33 CD3D CD3G IKBKB JAK3 ZAP70
13
Show member pathways
12.3 CD3D CD3G IKBKB
14
Show member pathways
12.26 CD3D CD3G IKBKB
15
Show member pathways
12.19 CD3D CD3G IKBKB ZAP70
16 12.16 CD3D CD3G IKBKB JAK3
17
Show member pathways
12.11 CD3D CD3G IKBKB ZAP70
18
Show member pathways
12.05 CD3D CD3G IKBKB ZAP70
19
Show member pathways
11.94 CD3D CD3G IKBKB ZAP70
20 11.82 CD3D CD3G
21
Show member pathways
11.82 CD3D CD3G IKBKB
22
Show member pathways
11.8 CD3D CD3G ZAP70
23 11.79 CD3D CD3G ZAP70
24 11.77 CD3D CD3G ZAP70
25
Show member pathways
11.71 IKBKB JAK3
26
Show member pathways
11.71 CD3D CD3G IKBKB ZAP70
27 11.66 CD3D CD3G
28 11.65 IKBKB ZAP70
29
Show member pathways
11.64 IKBKB JAK3
30
Show member pathways
11.61 CD3D CD3G
31 11.58 CD3D CD3G ZAP70
32
Show member pathways
11.56 CD3D CD3G IKBKB JAK3 ZAP70
33 11.55 CD3D CD3G ZAP70
34 11.54 CD3D CD3G
35 11.53 CD3G IKBKB ZAP70
36
Show member pathways
11.46 CD3D CD3G IKBKB
37
Show member pathways
11.44 CD3D CD3G
38 11.37 CD3D CD3G ZAP70
39
Show member pathways
11.29 CD3D CD3G IKBKB ZAP70
40 11.19 CD3D CD3G
41 11.11 CD3D JAK3 ZAP70
42 11.08 CD3D CD3G

GO Terms for Immunodeficiency 19

Cellular components related to Immunodeficiency 19 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extrinsic component of cytoplasmic side of plasma membrane GO:0031234 9.26 JAK3 ZAP70
2 clathrin-coated vesicle membrane GO:0030665 9.16 CD3D CD3G
3 alpha-beta T cell receptor complex GO:0042105 8.96 CD3D CD3G
4 T cell receptor complex GO:0042101 8.8 CD3D CD3G ZAP70

Biological processes related to Immunodeficiency 19 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.67 IKBKB JAK3 ZAP70
2 protein phosphorylation GO:0006468 9.65 IKBKB JAK3 ZAP70
3 innate immune response GO:0045087 9.63 IKBKB JAK3 ZAP70
4 membrane organization GO:0061024 9.51 CD3D CD3G
5 immune system process GO:0002376 9.46 CD3D CD3G JAK3 ZAP70
6 T cell costimulation GO:0031295 9.43 CD3D CD3G
7 T cell activation GO:0042110 9.4 CD3G ZAP70
8 peptidyl-tyrosine autophosphorylation GO:0038083 9.37 JAK3 ZAP70
9 T cell differentiation GO:0030217 9.32 CD3D ZAP70
10 positive thymic T cell selection GO:0045059 9.26 CD3D ZAP70
11 adaptive immune response GO:0002250 9.26 CD3D CD3G JAK3 ZAP70
12 T cell receptor signaling pathway GO:0050852 8.92 CD3D CD3G IKBKB ZAP70

Molecular functions related to Immunodeficiency 19 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.5 CD3D CD3G IKBKB
2 kinase activity GO:0016301 9.43 IKBKB JAK3 ZAP70
3 protein kinase activity GO:0004672 9.33 IKBKB JAK3 ZAP70
4 protein heterodimerization activity GO:0046982 9.13 CD3D CD3G IKBKB
5 non-membrane spanning protein tyrosine kinase activity GO:0004715 8.62 JAK3 ZAP70

Sources for Immunodeficiency 19

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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