IMD19
MCID: IMM081
MIFTS: 42

Immunodeficiency 19 (IMD19)

Categories: Genetic diseases, Immune diseases, Infectious diseases

Aliases & Classifications for Immunodeficiency 19

MalaCards integrated aliases for Immunodeficiency 19:

Name: Immunodeficiency 19 57 75 29 6 73
Cd3-Delta Deficiency 57 75
Cd3delta Deficiency 12 15
Imd19 57 75
Severe Combined Immunodeficiency, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 57
T Cell-Negative, B Cell-Positive, Nk Cell-Positive Severe Combined Immunodeficiency 75
Scid, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 57
T Cell-Negative, B Cell-Positive, Nk Cell-Positive Scid 75
Immunodeficiency, Type 19 40
Cd3d 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
immunodeficiency 19:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615617
Disease Ontology 12 DOID:0060016
MeSH 44 D007153
UMLS 73 C3810147

Summaries for Immunodeficiency 19

OMIM : 57 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 immunodeficiency 17 and immunodeficiency 18, and has symptoms including diarrhea 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 failure to thrive and recurrent respiratory infections

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 : 75 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:

57
Growth Other:
failure to thrive

Abdomen Gastrointestinal:
diarrhea
gastroenteritis

Head And Neck Ears:
otitis media, recurrent

Immunology:
lymphopenia
primary immunodeficiency
recurrent infections, bacterial, viral, and fungal
normal b cells
normal nk cells
more
Respiratory:
respiratory infections, recurrent

Head And Neck Mouth:
thrush


Clinical features from OMIM:

615617

Human phenotypes related to Immunodeficiency 19:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 recurrent respiratory infections 32 HP:0002205
3 immunodeficiency 32 HP:0002721
4 recurrent otitis media 32 HP:0000403
5 lymphopenia 32 HP:0001888
6 diarrhea 32 HP:0002014

UMLS symptoms related to Immunodeficiency 19:


diarrhea

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 9.17 ZAP70
2 Decreased viability GR00221-A-1 9.17 ZAP70
3 Decreased viability GR00221-A-2 9.17 ZAP70
4 Decreased viability GR00342-S-1 9.17 ZAP70
5 Decreased viability GR00342-S-2 9.17 IKBKB ZAP70
6 Decreased viability GR00402-S-2 9.17 ZAP70

MGI Mouse Phenotypes related to Immunodeficiency 19:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.46 CD3G IKBKB JAK3 ZAP70
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 29 CD3D

Anatomical Context for Immunodeficiency 19

MalaCards organs/tissues related to Immunodeficiency 19:

41
B Cells, T Cells, Nk Cells, Bone, Bone Marrow, Thymus

Publications for Immunodeficiency 19

Articles related to Immunodeficiency 19:

# Title Authors Year
1
CD3 delta deficiency arrests development of the alpha beta but not the gamma delta T cell lineage. ( 9135151 )
1997

Variations for Immunodeficiency 19

ClinVar genetic disease variations for Immunodeficiency 19:

6 (show all 20)
# 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.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs111033580 GRCh38 Chromosome 11, 118340447: 118340447
3 CD3D NM_000732.4(CD3D): c.279C> A (p.Cys93Ter) single nucleotide variant Pathogenic rs111033581 GRCh37 Chromosome 11, 118210617: 118210617
4 CD3D NM_000732.4(CD3D): c.279C> A (p.Cys93Ter) single nucleotide variant Pathogenic rs111033581 GRCh38 Chromosome 11, 118339902: 118339902
5 CD3D NM_000732.4(CD3D): c.450+6C> T single nucleotide variant Uncertain significance rs193922617 GRCh37 Chromosome 11, 118210160: 118210160
6 CD3D NM_000732.4(CD3D): c.450+6C> T single nucleotide variant Uncertain significance rs193922617 GRCh38 Chromosome 11, 118339445: 118339445
7 CD3D NM_000732.4(CD3D): c.274+5G> A single nucleotide variant Pathogenic rs730880296 GRCh38 Chromosome 11, 118340370: 118340370
8 CD3D NM_000732.4(CD3D): c.274+5G> A single nucleotide variant Pathogenic rs730880296 GRCh37 Chromosome 11, 118211085: 118211085
9 CD3D NM_000732.4(CD3D): c.463C> T (p.Arg155Ter) single nucleotide variant Uncertain significance rs777721098 GRCh38 Chromosome 11, 118339215: 118339215
10 CD3D NM_000732.4(CD3D): c.463C> T (p.Arg155Ter) single nucleotide variant Uncertain significance rs777721098 GRCh37 Chromosome 11, 118209930: 118209930
11 CD3D NM_000732.4(CD3D): c.274+8C> T single nucleotide variant Likely benign GRCh38 Chromosome 11, 118340367: 118340367
12 CD3D NM_000732.4(CD3D): c.274+8C> T single nucleotide variant Likely benign GRCh37 Chromosome 11, 118211082: 118211082
13 CD3D NM_000732.4(CD3D): c.76A> G (p.Ile26Val) single nucleotide variant Uncertain significance rs201374139 GRCh38 Chromosome 11, 118340573: 118340573
14 CD3D NM_000732.4(CD3D): c.76A> G (p.Ile26Val) single nucleotide variant Uncertain significance rs201374139 GRCh37 Chromosome 11, 118211288: 118211288
15 CD3D NM_000732.4(CD3D): c.52C> A (p.Gln18Lys) single nucleotide variant Uncertain significance rs141902449 GRCh37 Chromosome 11, 118213271: 118213271
16 CD3D NM_000732.4(CD3D): c.52C> A (p.Gln18Lys) single nucleotide variant Uncertain significance rs141902449 GRCh38 Chromosome 11, 118342556: 118342556
17 CD3D NM_000732.4(CD3D): c.418C> A (p.Gln140Lys) single nucleotide variant Uncertain significance rs201126605 GRCh38 Chromosome 11, 118339483: 118339483
18 CD3D NM_000732.4(CD3D): c.418C> A (p.Gln140Lys) single nucleotide variant Uncertain significance rs201126605 GRCh37 Chromosome 11, 118210198: 118210198
19 CD3D NM_000732.4(CD3D): c.244A> G (p.Lys82Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 118211120: 118211120
20 CD3D NM_000732.4(CD3D): c.244A> G (p.Lys82Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 118340405: 118340405

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 49)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 CD3D CD3G IKBKB JAK3 ZAP70
2
Show member pathways
13.42 CD3D CD3G IKBKB JAK3 ZAP70
3
Show member pathways
13.34 CD3D CD3G IKBKB JAK3
4
Show member pathways
13.15 CD3D CD3G IKBKB ZAP70
5
Show member pathways
13.12 CD3D CD3G IKBKB JAK3 ZAP70
6
Show member pathways
12.77 CD3D CD3G ZAP70
7
Show member pathways
12.76 CD3D CD3G IKBKB
8
Show member pathways
12.72 CD3D CD3G IKBKB
9
Show member pathways
12.7 CD3D CD3G IKBKB ZAP70
10
Show member pathways
12.67 CD3D CD3G IKBKB JAK3
11
Show member pathways
12.66 CD3D CD3G IKBKB ZAP70
12
Show member pathways
12.57 CD3D CD3G IKBKB JAK3
13
Show member pathways
12.43 CD3D CD3G IKBKB ZAP70
14 12.35 IKBKB JAK3 ZAP70
15
Show member pathways
12.33 CD3D CD3G IKBKB
16
Show member pathways
12.33 CD3D CD3G IKBKB JAK3 ZAP70
17
Show member pathways
12.28 CD3D CD3G IKBKB
18
Show member pathways
12.22 CD3D CD3G IKBKB ZAP70
19 12.2 CD3D CD3G IKBKB JAK3
20
Show member pathways
12.16 CD3D CD3G IKBKB ZAP70
21
Show member pathways
12.08 CD3D CD3G IKBKB ZAP70
22
Show member pathways
12.04 CD3D CD3G IKBKB ZAP70
23 11.97 CD3D CD3G IKBKB JAK3
24 11.84 CD3D CD3G
25
Show member pathways
11.83 CD3D CD3G IKBKB
26 11.8 CD3D CD3G ZAP70
27
Show member pathways
11.8 CD3D CD3G ZAP70
28 11.79 CD3D CD3G ZAP70
29
Show member pathways
11.78 CD3D CD3G ZAP70
30
Show member pathways
11.72 IKBKB JAK3
31
Show member pathways
11.71 CD3D CD3G IKBKB ZAP70
32 11.68 CD3D CD3G
33 11.67 IKBKB ZAP70
34
Show member pathways
11.65 IKBKB JAK3
35 11.6 CD3D CD3G ZAP70
36 11.57 CD3D CD3G ZAP70
37 11.57 CD3G IKBKB ZAP70
38 11.56 CD3D CD3G
39
Show member pathways
11.56 CD3D CD3G IKBKB JAK3 ZAP70
40 11.49 CD3D CD3G ZAP70
41
Show member pathways
11.47 CD3D CD3G IKBKB
42
Show member pathways
11.46 CD3D CD3G
43 11.4 CD3D CD3G ZAP70
44
Show member pathways
11.29 CD3D CD3G IKBKB ZAP70
45 11.22 CD3D CD3G IKBKB ZAP70
46 11.2 CD3D CD3G
47 11.2 CD3D JAK3 ZAP70
48 11.1 CD3D CD3G
49
Show member pathways
11 IKBKB JAK3

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 clathrin-coated vesicle membrane GO:0030665 9.16 CD3D CD3G
2 alpha-beta T cell receptor complex GO:0042105 8.96 CD3D CD3G
3 T cell receptor complex GO:0042101 8.8 CD3D CD3G ZAP70

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

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.62 CD3D CD3G JAK3 ZAP70
2 phosphorylation GO:0016310 9.61 IKBKB JAK3 ZAP70
3 protein phosphorylation GO:0006468 9.58 IKBKB JAK3 ZAP70
4 adaptive immune response GO:0002250 9.56 CD3D CD3G JAK3 ZAP70
5 membrane organization GO:0061024 9.46 CD3D CD3G
6 T cell activation GO:0042110 9.37 CD3G ZAP70
7 T cell differentiation GO:0030217 9.33 CD3D CD3G ZAP70
8 T cell receptor signaling pathway GO:0050852 9.26 CD3D CD3G IKBKB ZAP70
9 positive thymic T cell selection GO:0045059 8.8 CD3D CD3G 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
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
Content
Loading form....