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 56 73 29 6 71
Cd3-Delta Deficiency 56 73
Cd3delta Deficiency 12 15
Imd19 56 73
Severe Combined Immunodeficiency, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 56
T Cell-Negative, B Cell-Positive, Nk Cell-Positive Severe Combined Immunodeficiency 73
Scid, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 56
T Cell-Negative, B Cell-Positive, Nk Cell-Positive Scid 73
Immunodeficiency, Type 19 39
Cd3d 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0060016
OMIM 56 615617
OMIM Phenotypic Series 56 PS300755
MeSH 43 D007153
UMLS 71 C3810147

Summaries for Immunodeficiency 19

OMIM : 56 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 cd3zeta deficiency and immunodeficiency 17, and has symptoms including diarrhea An important gene associated with Immunodeficiency 19 is CD3D (CD3d Molecule), and among its related pathways/superpathways are CCR5 Pathway in Macrophages and Development Angiotensin activation of ERK. Affiliated tissues include b cells, t cells and nk cells, and related phenotypes are recurrent respiratory infections and failure to thrive

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 : 73 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

Human phenotypes related to Immunodeficiency 19:

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

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Immunodeficiency 19:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.55 ADA CD3G CORO1A PTCRA ZAP70
2 hematopoietic system MP:0005397 9.5 ADA CD3D CD3G CORO1A DOCK2 PTCRA
3 immune system MP:0005387 9.17 ADA CD3D CD3G CORO1A DOCK2 PTCRA

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:

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

Publications for Immunodeficiency 19

Articles related to Immunodeficiency 19:

# Title Authors PMID Year
1
Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID. 6 56
21883749 2011
2
A leaky mutation in CD3D differentially affects αβ and γδ T cells and leads to a Tαβ-Tγδ+B+NK+ human SCID. 56 6
21926461 2011
3
Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency. 6 56
14602880 2003
4
Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. 56
15546002 2004
5
CD3delta couples T-cell receptor signalling to ERK activation and thymocyte positive selection. 6
10935641 2000
6
Acute hypoxemic respiratory failure in children following bone marrow transplantation: an outcome and pathologic study. 61
7712767 1995

Variations for Immunodeficiency 19

ClinVar genetic disease variations for Immunodeficiency 19:

6 (show all 39) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 33 genes: ARCN1 , HMBS , KMT2A NC_000011.9:g.(?_117856768)_(118972385_?)deldeletion Pathogenic 831101 11:117856768-118972385
2 CD3D NM_000732.4(CD3D):c.128G>A (p.Trp43Ter)SNV Pathogenic 643120 11:118211236-118211236 11:118340521-118340521
3 CD3D NM_000732.4(CD3D):c.274+5G>ASNV Pathogenic 180674 rs730880296 11:118211085-118211085 11:118340370-118340370
4 CD3D NM_000732.4(CD3D):c.202C>T (p.Arg68Ter)SNV Pathogenic 12747 rs111033580 11:118211162-118211162 11:118340447-118340447
5 CD3D NM_001040651.2(CD3D):c.275-408C>ASNV Pathogenic 12748 rs111033581 11:118210617-118210617 11:118339902-118339902
6 CD3D NM_000732.4(CD3D):c.450+6C>TSNV Uncertain significance 35805 rs193922617 11:118210160-118210160 11:118339445-118339445
7 CD3D NM_000732.4(CD3D):c.121A>G (p.Ile41Val)SNV Uncertain significance 302672 rs886047737 11:118211243-118211243 11:118340528-118340528
8 CD3D NM_000732.4(CD3D):c.-128G>TSNV Uncertain significance 302677 rs200171722 11:118213450-118213450 11:118342735-118342735
9 CD3D NM_000732.4(CD3D):c.-93C>TSNV Uncertain significance 302676 rs772705529 11:118213415-118213415 11:118342700-118342700
10 CD3D NM_000732.4(CD3D):c.274+4C>TSNV Uncertain significance 302671 rs201299420 11:118211086-118211086 11:118340371-118340371
11 CD3D NM_000732.4(CD3D):c.-46T>CSNV Uncertain significance 302675 rs886047740 11:118213368-118213368 11:118342653-118342653
12 CD3D NM_000732.4(CD3D):c.510C>T (p.Asn170=)SNV Uncertain significance 302670 rs146997233 11:118209883-118209883 11:118339168-118339168
13 CD3D NM_000732.4(CD3D):c.-44G>ASNV Uncertain significance 302674 rs886047739 11:118213366-118213366 11:118342651-118342651
14 CD3D NM_000732.4(CD3D):c.60C>G (p.Ser20Arg)SNV Uncertain significance 658379 11:118211304-118211304 11:118340589-118340589
15 CD3D NM_000732.6(CD3D):c.455T>C (p.Leu152Pro)SNV Uncertain significance 849523 11:118209938-118209938 11:118339223-118339223
16 CD3D NM_000732.6(CD3D):c.403G>A (p.Gly135Arg)SNV Uncertain significance 846720 11:118210493-118210493 11:118339778-118339778
17 CD3D NM_000732.6(CD3D):c.317G>A (p.Gly106Asp)SNV Uncertain significance 840028 11:118210579-118210579 11:118339864-118339864
18 CD3D NM_000732.6(CD3D):c.262G>A (p.Val88Ile)SNV Uncertain significance 844932 11:118211102-118211102 11:118340387-118340387
19 CD3D NM_000732.6(CD3D):c.247G>A (p.Glu83Lys)SNV Uncertain significance 842296 11:118211117-118211117 11:118340402-118340402
20 CD3D NM_000732.6(CD3D):c.114T>A (p.Asn38Lys)SNV Uncertain significance 845145 11:118211250-118211250 11:118340535-118340535
21 CD3D NM_000732.6(CD3D):c.112A>G (p.Asn38Asp)SNV Uncertain significance 848861 11:118211252-118211252 11:118340537-118340537
22 CD3D NM_000732.6(CD3D):c.-8G>ASNV Uncertain significance 877885 11:118213330-118213330 11:118342615-118342615
23 CD3D NM_000732.6(CD3D):c.-77G>ASNV Uncertain significance 877886 11:118213399-118213399 11:118342684-118342684
24 CD3D NM_000732.6(CD3D):c.450+7G>TSNV Uncertain significance 879824 11:118210159-118210159 11:118339444-118339444
25 CD3D NM_000732.4(CD3D):c.416C>T (p.Thr139Ile)SNV Uncertain significance 420806 rs527584796 11:118210200-118210200 11:118339485-118339485
26 CD3D NM_000732.4(CD3D):c.463C>T (p.Arg155Ter)SNV Uncertain significance 474829 rs777721098 11:118209930-118209930 11:118339215-118339215
27 CD3D NM_000732.4(CD3D):c.76A>G (p.Ile26Val)SNV Uncertain significance 541672 rs201374139 11:118211288-118211288 11:118340573-118340573
28 CD3D NM_000732.4(CD3D):c.418C>A (p.Gln140Lys)SNV Uncertain significance 541673 rs201126605 11:118210198-118210198 11:118339483-118339483
29 CD3D NM_000732.4(CD3D):c.244A>G (p.Lys82Glu)SNV Uncertain significance 541674 rs1555119773 11:118211120-118211120 11:118340405-118340405
30 CD3D NM_000732.4(CD3D):c.485A>T (p.His162Leu)SNV Uncertain significance 639952 11:118209908-118209908 11:118339193-118339193
31 CD3D NM_000732.4(CD3D):c.457C>G (p.Arg153Gly)SNV Uncertain significance 653087 11:118209936-118209936 11:118339221-118339221
32 CD3D NM_000732.4(CD3D):c.440A>G (p.Gln147Arg)SNV Uncertain significance 645619 11:118210176-118210176 11:118339461-118339461
33 CD3D NM_000732.4(CD3D):c.211T>C (p.Tyr71His)SNV Uncertain significance 656796 11:118211153-118211153 11:118340438-118340438
34 CD3D NM_000732.4(CD3D):c.52C>A (p.Gln18Lys)SNV Likely benign 541671 rs141902449 11:118213271-118213271 11:118342556-118342556
35 CD3D NM_000732.4(CD3D):c.275-5C>TSNV Likely benign 742068 11:118210626-118210626 11:118339911-118339911
36 CD3D NM_000732.4(CD3D):c.360G>A (p.Leu120=)SNV Likely benign 763721 11:118210536-118210536 11:118339821-118339821
37 CD3D NM_000732.4(CD3D):c.309C>T (p.Thr103=)SNV Likely benign 755525 11:118210587-118210587 11:118339872-118339872
38 CD3D NM_000732.4(CD3D):c.202C>A (p.Arg68=)SNV Likely benign 761076 11:118211162-118211162 11:118340447-118340447
39 CD3D NM_000732.4(CD3D):c.*59C>TSNV Benign 302669 rs113271462 11:118209818-118209818 11:118339103-118339103

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 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 DOCK2 CD3G CD3D
2
Show member pathways
12.51 ZAP70 CD3G CD3D
3
Show member pathways
12.33 ZAP70 CD3G CD3D
4
Show member pathways
12.28 ZAP70 CD3G CD3D
5
Show member pathways
12.27 ZAP70 CD3G CD3D
6
Show member pathways
12.13 ZAP70 CD3G CD3D
7
Show member pathways
12.07 ZAP70 CD3G CD3D
8
Show member pathways
12 ZAP70 CD3G CD3D
9
Show member pathways
11.65 ZAP70 CD3G CD3D
10 11.62 ZAP70 CD3G
11 11.62 ZAP70 CD3G CD3D
12
Show member pathways
11.62 ZAP70 CD3G CD3D
13 11.61 CD3G CD3D
14 11.61 ZAP70 CD3G CD3D
15
Show member pathways
11.58 ZAP70 CD3G CD3D
16
Show member pathways
11.51 CD3G CD3D
17 11.5 PTCRA ADA
18 11.48 CD3G CD3D
19
Show member pathways
11.37 CD3G CD3D
20 11.3 ZAP70 CD3G CD3D
21 11.18 ZAP70 CD3G CD3D
22 11.08 CD3G CD3D
23 10.94 CD3G CD3D
24 10.83 ZAP70 CD3G CD3D
25 10.38 ZAP70 CD3D ADA

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 membrane GO:0016020 9.91 ZAP70 PTCRA DOCK2 CORO1A CD3G CD3D
2 external side of plasma membrane GO:0009897 9.5 CD3G CD3D ADA
3 clathrin-coated vesicle membrane GO:0030665 9.26 CD3G CD3D
4 immunological synapse GO:0001772 9.16 ZAP70 CORO1A
5 T cell receptor complex GO:0042101 9.13 ZAP70 CD3G CD3D
6 alpha-beta T cell receptor complex GO:0042105 8.62 CD3G CD3D

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 adaptive immune response GO:0002250 9.69 ZAP70 CD3G CD3D
2 T cell receptor signaling pathway GO:0050852 9.63 ZAP70 CD3G CD3D
3 positive regulation of T cell activation GO:0050870 9.49 CORO1A ADA
4 positive regulation of T cell differentiation GO:0045582 9.48 ZAP70 ADA
5 positive regulation of calcium-mediated signaling GO:0050850 9.43 ZAP70 ADA
6 immunological synapse formation GO:0001771 9.4 DOCK2 CORO1A
7 negative thymic T cell selection GO:0045060 9.37 ZAP70 DOCK2
8 T cell differentiation GO:0030217 9.33 ZAP70 CD3G CD3D
9 positive regulation of alpha-beta T cell differentiation GO:0046638 9.32 ZAP70 ADA
10 negative regulation of thymocyte apoptotic process GO:0070244 9.26 PTCRA ADA
11 T cell activation GO:0042110 9.26 ZAP70 DOCK2 CD3G ADA
12 positive thymic T cell selection GO:0045059 8.92 ZAP70 DOCK2 CD3G CD3D

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

# Name GO ID Score Top Affiliating Genes
1 T cell receptor binding GO:0042608 8.62 DOCK2 CD3G

Sources for Immunodeficiency 19

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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