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IMD19
MCID: IMM081
MIFTS: 41

Immunodeficiency 19 (IMD19)

Categories: Genetic diseases, Immune diseases, Infectious diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Immunodeficiency 19

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MalaCards integrated aliases for Immunodeficiency 19:

Name: Immunodeficiency 19 58 76 30 6 74
Cd3-Delta Deficiency 58 76
Cd3delta Deficiency 12 15
Imd19 58 76
Severe Combined Immunodeficiency, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 58
T Cell-Negative, B Cell-Positive, Nk Cell-Positive Severe Combined Immunodeficiency 76
Scid, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 58
T Cell-Negative, B Cell-Positive, Nk Cell-Positive Scid 76
Immunodeficiency, Type 19 41
Cd3d 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
immunodeficiency 19:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Infectious diseases
Anatomical: Immune diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0060016
OMIM 58 615617
MeSH 45 D007153
UMLS 74 C3810147
Sources

Summaries for Immunodeficiency 19

About this section
OMIM : 58 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 18 and granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii, 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 : 76 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.

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Related Diseases for Immunodeficiency 19

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Diseases related to Immunodeficiency 19 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency 18 31.7 CD3D CD3G
2 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii 31.7 CD3D CD3G
3 immunodeficiency 17 31.6 CD3D CD3G
4 severe combined immunodeficiency 29.3 CD3D JAK3 ZAP70
5 combined t cell and b cell immunodeficiency 29.3 CD3G JAK3 ZAP70
6 immunodeficiency 49 12.1
7 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive 11.3
8 viral pneumonia 11.2
9 t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta 11.0
10 melioidosis 10.7
11 cutaneous leishmaniasis 10.7
12 leukemia, acute lymphoblastic 10.1
13 diabetes mellitus 10.1
14 leukemia 10.1
15 lymphocytic leukemia 10.1
16 acute t cell leukemia 10.1
17 immune defect due to absence of thymus 9.8 CD3G ZAP70
18 t cell deficiency 9.6 CD3G ZAP70

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



Diseases related to Immunodeficiency 19
Sources

Symptoms & Phenotypes for Immunodeficiency 19

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Human phenotypes related to Immunodeficiency 19:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 33 HP:0001508
2 recurrent respiratory infections 33 HP:0002205
3 immunodeficiency 33 HP:0002721
4 recurrent otitis media 33 HP:0000403
5 lymphopenia 33 HP:0001888
6 diarrhea 33 HP:0002014

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Immunodeficiency 19:


diarrhea

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

27
# 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:

47
# 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
Sources

Drugs & Therapeutics for Immunodeficiency 19

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Search Clinical Trials , NIH Clinical Center for Immunodeficiency 19

Sources

Genetic Tests for Immunodeficiency 19

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Genetic tests related to Immunodeficiency 19:

# Genetic test Affiliating Genes
1 Immunodeficiency 19 30 CD3D
Sources

Anatomical Context for Immunodeficiency 19

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MalaCards organs/tissues related to Immunodeficiency 19:

42
B Cells, T Cells, Nk Cells, Bone, Bone Marrow
Sources

Publications for Immunodeficiency 19

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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
Sources

Variations for Immunodeficiency 19

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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.274+5G> A single nucleotide variant Pathogenic rs730880296 GRCh38 Chromosome 11, 118340370: 118340370
2 CD3D NM_000732.4(CD3D): c.274+5G> A single nucleotide variant Pathogenic rs730880296 GRCh37 Chromosome 11, 118211085: 118211085
3 CD3D NM_000732.4(CD3D): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs111033580 GRCh38 Chromosome 11, 118340447: 118340447
4 CD3D NM_000732.4(CD3D): c.279C> A (p.Cys93Ter) single nucleotide variant Pathogenic rs111033581 GRCh37 Chromosome 11, 118210617: 118210617
5 CD3D NM_000732.4(CD3D): c.279C> A (p.Cys93Ter) single nucleotide variant Pathogenic rs111033581 GRCh38 Chromosome 11, 118339902: 118339902
6 CD3D NM_000732.4(CD3D): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs111033580 GRCh37 Chromosome 11, 118211162: 118211162
7 CD3D NM_000732.4(CD3D): c.450+6C> T single nucleotide variant Uncertain significance rs193922617 GRCh37 Chromosome 11, 118210160: 118210160
8 CD3D NM_000732.4(CD3D): c.450+6C> T single nucleotide variant Uncertain significance rs193922617 GRCh38 Chromosome 11, 118339445: 118339445
9 CD3D NM_000732.4(CD3D): c.463C> T (p.Arg155Ter) single nucleotide variant Uncertain significance rs777721098 GRCh37 Chromosome 11, 118209930: 118209930
10 CD3D NM_000732.4(CD3D): c.463C> T (p.Arg155Ter) single nucleotide variant Uncertain significance rs777721098 GRCh38 Chromosome 11, 118339215: 118339215
11 CD3D NM_000732.4(CD3D): c.274+8C> T single nucleotide variant Likely benign rs1209300043 GRCh38 Chromosome 11, 118340367: 118340367
12 CD3D NM_000732.4(CD3D): c.274+8C> T single nucleotide variant Likely benign rs1209300043 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 GRCh37 Chromosome 11, 118210198: 118210198
18 CD3D NM_000732.4(CD3D): c.418C> A (p.Gln140Lys) single nucleotide variant Uncertain significance rs201126605 GRCh38 Chromosome 11, 118339483: 118339483
19 CD3D NM_000732.4(CD3D): c.244A> G (p.Lys82Glu) single nucleotide variant Uncertain significance rs1555119773 GRCh37 Chromosome 11, 118211120: 118211120
20 CD3D NM_000732.4(CD3D): c.244A> G (p.Lys82Glu) single nucleotide variant Uncertain significance rs1555119773 GRCh38 Chromosome 11, 118340405: 118340405
Sources

Expression for Immunodeficiency 19

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Search GEO for disease gene expression data for Immunodeficiency 19.
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Pathways for Immunodeficiency 19

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

(show all 47)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 67
Show member pathways
 13.66 CD3D CD3G IKBKB JAK3 ZAP70
2
GPCR Pathway 65
Show member pathways
 13.41 CD3D CD3G IKBKB JAK3 ZAP70
3
PEDF Induced Signaling 65
Show member pathways
 13.33 CD3D CD3G IKBKB JAK3
4
Class I MHC mediated antigen processing and presentation 67
Show member pathways
 13.14 CD3D CD3G IKBKB ZAP70
5
Akt Signaling 65
Show member pathways
 13.11 CD3D CD3G IKBKB JAK3 ZAP70
6
Toll-like Receptor Signaling Pathway 38 1
Show member pathways
 12.89 CD3D CD3G IKBKB
7
Phospholipase-C Pathway 65
Show member pathways
 12.77 CD3D CD3G ZAP70
8
Development Angiotensin activation of ERK 23
Show member pathways
 12.69 CD3D CD3G IKBKB ZAP70
9
Human cytomegalovirus infection 38
Show member pathways
 12.67 CD3D CD3G IKBKB
10
CCR5 Pathway in Macrophages 65
Show member pathways
 12.66 CD3D CD3G IKBKB JAK3
11
Allograft rejection 1 38
Show member pathways
 12.65 CD3D CD3G IKBKB ZAP70
12
Immune response NFAT in immune response 23
Show member pathways
 12.42 CD3D CD3G IKBKB ZAP70
13
Influenza A 38
Show member pathways
 12.36 CD3D CD3G IKBKB JAK3
14
NF-kappaB Signaling 4
12.35 IKBKB JAK3 ZAP70
15
TCR Signaling (Qiagen) 65
Show member pathways
 12.33 CD3D CD3G IKBKB JAK3 ZAP70
16
Antigen processing-Cross presentation 67
Show member pathways
 12.27 CD3D CD3G IKBKB
17
T cell receptor signaling pathway 38
Show member pathways
 12.2 CD3D CD3G IKBKB ZAP70
18
ICos-ICosL Pathway in T-Helper Cell 65
Show member pathways
 12.14 CD3D CD3G IKBKB ZAP70
19
Human T-cell leukemia virus 1 infection 38
12.12 CD3D CD3G IKBKB JAK3
20
TCR signaling (REACTOME) 67
Show member pathways
 12.05 CD3D CD3G IKBKB ZAP70
21
B Cell Receptor Signaling Pathway (sino) 68
Show member pathways
 12 CD3D CD3G IKBKB ZAP70
22
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell 67
11.83 CD3D CD3G
23
IL12-mediated signaling events 1
Show member pathways
 11.82 CD3D CD3G IKBKB
24
Reelin Pathway (Cajal-Retzius cells) 65
11.8 CD3D CD3G ZAP70
25
Translocation of ZAP-70 to Immunological synapse 67
Show member pathways
 11.8 CD3D CD3G ZAP70
26
S-1P Stimulated Signaling 65
11.79 CD3D CD3G ZAP70
27
G-protein signaling N-RAS regulation pathway 23
Show member pathways
 11.77 CD3D CD3G ZAP70
28
Immune response IL-2 activation and signaling pathway 23
Show member pathways
 11.72 IKBKB JAK3
29
Immune response Function of MEF2 in T lymphocytes 23
Show member pathways
 11.71 CD3D CD3G IKBKB ZAP70
30
Hematopoietic cell lineage 38
11.67 CD3D CD3G
31
NF-kappa B signaling pathway 38
11.66 IKBKB ZAP70
32
Cytokine production by Th17 cells in CF (Mouse model) 23
Show member pathways
 11.65 IKBKB JAK3
33
Signal transduction_Erk Interactions- Inhibition of Erk 23
11.59 CD3D CD3G ZAP70
34
CTLA4 Signaling 65
11.56 CD3D CD3G ZAP70
35
NF-kB (NFkB) Pathway 68
11.56 CD3G IKBKB ZAP70
36
Th17 cell differentiation 38
Show member pathways
 11.56 CD3D CD3G IKBKB JAK3 ZAP70
37
CXCR4-mediated signaling events 1
11.55 CD3D CD3G
38
G-protein signaling_Regulation of RAC1 activity 23
11.48 CD3D CD3G ZAP70
39
IL-2 Gene Expression in Activated and Quiescent T-Cells 65
Show member pathways
 11.46 CD3D CD3G IKBKB
40
Downstream signaling in naive CD8+ T cells 1
Show member pathways
 11.45 CD3D CD3G
41
G-protein signaling_Rap1A regulation pathway 23
11.39 CD3D CD3G ZAP70
42
TCR signaling in naive CD4+ T cells 1
Show member pathways
 11.29 CD3D CD3G IKBKB ZAP70
43
DNA damage_Role of Brca1 and Brca2 in DNA repair 23
11.22 CD3D CD3G IKBKB ZAP70
44
Nur77 Signaling in T-Cell 65
11.2 CD3D CD3G
45
Primary immunodeficiency 38
11.18 CD3D JAK3 ZAP70
46
IL12 signaling mediated by STAT4 1
11.09 CD3D CD3G
47
Telomere Extension by Telomerase 65
Show member pathways
 11 IKBKB JAK3
Sources

GO Terms for Immunodeficiency 19

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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

Sources for Immunodeficiency 19

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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