IMD19
MCID: IMM081
MIFTS: 48

Immunodeficiency 19 (IMD19)

Categories: Genetic diseases, Immune diseases, Infectious diseases, Respiratory diseases
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Aliases & Classifications for Immunodeficiency 19

MalaCards integrated aliases for Immunodeficiency 19:

Name: Immunodeficiency 19 57 11 73 28 5 71
Cd3-Delta Deficiency 57 11 73
Imd19 57 11 73
Severe Combined Immunodeficiency, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 57 11
Cd3delta Deficiency 11 14
T Cell-Negative, B Cell-Positive, Nk Cell-Positive Severe Combined Immunodeficiency 73
Scid, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 57
Scid T Cell-Negative, B Cell-Positive, Nk Cell-Positive 11
T Cell-Negative, B Cell-Positive, Nk Cell-Positive Scid 73
Immunodeficiency 19, Severe Combined 57
Immunodeficiency, Type 19 38
Cd3d 11

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
death in infancy without bone marrow transplantation


Classifications:



External Ids:

Disease Ontology 11 DOID:0060016 DOID:0111972
OMIM® 57 615617
OMIM Phenotypic Series 57 PS300755,PS601457
MeSH 43 D007153
UMLS 71 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) (Updated 08-Dec-2022)

MalaCards based summary: Immunodeficiency 19, also known as cd3-delta deficiency, is related to granulomatous disease, chronic, autosomal recessive, 3 and coronin-1a deficiency, and has symptoms including diarrhea An important gene associated with Immunodeficiency 19 is CD3D (CD3 Delta Subunit Of T-Cell Receptor Complex), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Akt Signaling. Affiliated tissues include bone marrow, bone and t cells, and related phenotypes are failure to thrive and recurrent respiratory infections

Disease Ontology 11 Immunodeficiency 19: A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has material basis in homozygous or compound heterozygous mutation in CD3D on chromosome 11q23.3.

Cd3delta deficiency: 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 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

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

(show all 42)
# Related Disease Score Top Affiliating Genes
1 granulomatous disease, chronic, autosomal recessive, 3 31.4 CD3G CD3D
2 coronin-1a deficiency 31.3 CORO1A CD3D
3 adenosine deaminase deficiency 31.3 CD3D ADA
4 immunodeficiency 17 31.0 ZAP70 CD3G CD3D
5 bare lymphocyte syndrome, type ii 30.9 ZAP70 CD3D ADA
6 cd3zeta deficiency 30.8 CD3G CD3D CD247
7 immunodeficiency 18 30.7 PTCRA CD3G CD3D CD247
8 omenn syndrome 30.2 ZAP70 CORO1A CD3G CD3D ADA
9 t-cell acute lymphoblastic leukemia 29.1 ZAP70 PTCRA ADA
10 leukemia, acute lymphoblastic 29.0 ZAP70 CD247 ADA
11 immune deficiency disease 29.0 ZAP70 CD247 ADA
12 severe combined immunodeficiency 28.3 ZAP70 CORO1A CD3G CD3D CD247 ADA
13 combined immunodeficiency 28.3 ZAP70 CORO1A CD3G CD3D CD247 ADA
14 immunodeficiency 49 12.1
15 immunodeficiency 104 11.8
16 bladder cancer 9.9
17 breast cancer 9.9
18 colorectal cancer 9.9
19 hepatocellular carcinoma 9.9
20 coloboma, ocular, autosomal dominant 9.9
21 coloboma of optic nerve 9.9
22 rheumatoid arthritis 9.9
23 type 1 diabetes mellitus 9.9
24 squamous cell carcinoma, head and neck 9.9
25 leukemia, acute myeloid 9.9
26 gastric cancer 9.9
27 acute leukemia 9.9
28 colon adenocarcinoma 9.9
29 colonic benign neoplasm 9.9
30 arthritis 9.9
31 myeloid leukemia 9.9
32 acute myeloid leukemia with recurrent genetic anomaly 9.9
33 primary agammaglobulinemia 9.9
34 t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta 9.9 CD3D CD247
35 purine nucleoside phosphorylase deficiency 9.8 ZAP70 ADA
36 t cell deficiency 9.8 ZAP70 CORO1A
37 prolymphocytic leukemia 9.8 ZAP70 ADA
38 lymphopenia 9.7 CORO1A CD3G ADA
39 melioidosis 9.6
40 cutaneous leishmaniasis 9.6
41 common variable immunodeficiency 9.4 ZAP70 CD247 ADA
42 leukemia, chronic lymphocytic 9.2 ZAP70 CD247 ADA

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:

30 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 30 HP:0001508
2 recurrent respiratory infections 30 HP:0002205
3 immunodeficiency 30 HP:0002721
4 recurrent otitis media 30 HP:0000403
5 lymphopenia 30 HP:0001888
6 diarrhea 30 HP:0002014

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
failure to thrive

Abdomen Gastrointestinal:
diarrhea
gastroenteritis

Head And Neck Ears:
otitis media, recurrent

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

Head And Neck Mouth:
thrush

Clinical features from OMIM®:

615617 (Updated 08-Dec-2022)

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 9.63 ADA CD247 CD3G CORO1A PTCRA ZAP70
2 immune system MP:0005387 9.5 ADA CD247 CD3D CD3G CORO1A PTCRA
3 hematopoietic system MP:0005397 9.17 ADA CD247 CD3D CD3G CORO1A 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 28 CD3D

Anatomical Context for Immunodeficiency 19

Organs/tissues related to Immunodeficiency 19:

MalaCards : Bone Marrow, Bone, T Cells, B Cells, Nk Cells, Lung, Breast
ODiseA: Blood And Bone Marrow, Respiratory System-Lung, Respiratory System

Publications for Immunodeficiency 19

Articles related to Immunodeficiency 19:

(show top 50) (show all 180)
# Title Authors PMID Year
1
Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID. 62 57 5
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. 62 57 5
21926461 2011
3
Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. 62 57 5
15546002 2004
4
Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency. 62 57 5
14602880 2003
5
Human CD3γ, but not CD3δ, haploinsufficiency differentially impairs γδ versus αβ surface TCR expression. 62 5
23336327 2013
6
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies. 5
31031743 2019
7
Esid 2014 oral presentations. 5
25344390 2014
8
Enrichment of the rare CD4⁺ γδ T-cell subset in patients with atypical CD3δ deficiency. 5
24290291 2014
9
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. 5
17576681 2007
10
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
11
CD3delta couples T-cell receptor signalling to ERK activation and thymocyte positive selection. 5
10935641 2000
12
Statistical features of human exons and their flanking regions. 5
9536098 1998
13
Autoimmune gene expression profiling of fingerstick whole blood in Chronic Fatigue Syndrome. 62
36284352 2022
14
Radiotherapy-Related Gene Signature in Prostate Cancer. 62
36291815 2022
15
FGFR1/MAPK-directed brachyury activation drives PD-L1-mediated immune evasion to promote lung cancer progression. 62
35985510 2022
16
The Immune Subtypes and Landscape of Advanced-Stage Ovarian Cancer. 62
36146529 2022
17
Severe combined immunodeficiencies: Expanding the mutation spectrum in Turkey and identification of 12 novel variants. 62
35303369 2022
18
CD3D: a prognostic biomarker associated with immune infiltration and immunotherapeutic response in head and neck squamous cell carcinoma. 62
35712757 2022
19
Single-cell Transcriptomics Uncover a Novel Role of Myeloid Cells and T-lymphocytes in the Fibrotic Microenvironment in Peyronie's Disease. 62
33962884 2022
20
Overcoming biases in causal inference of molecular interactions. 62
35385081 2022
21
Overexpression of miR-490-5p/miR-490-3p Potentially Induces IL-17-Producing T Cells in Patients With Breast Cancer. 62
35445179 2022
22
A novel 4 immune-related genes as diagnostic markers and correlated with immune infiltrates in major depressive disorder. 62
35152883 2022
23
Identifying the Hub Genes and Immune Cell Infiltration in Synovial Tissue between Osteoarthritic and Rheumatoid Arthritic Patients by Bioinformatic Approach. 62
34736376 2022
24
Single-Cell RNA and ATAC Sequencing Reveal Hemodialysis-Related Immune Dysregulation of Circulating Immune Cell Subpopulations. 62
35720370 2022
25
Early-Life Exposure of Pigs to Topsoil Alters miRNA and mRNA Expression in Peripheral Blood Mononuclear Cells. 62
36081988 2022
26
Screening of Sepsis Biomarkers Based on Bioinformatics Data Analysis. 62
36199375 2022
27
Analysis of Sepsis Markers and Pathogenesis Based on Gene Differential Expression and Protein Interaction Network. 62
35190763 2022
28
Immune microenvironment-related gene mapping predicts immunochemotherapy response and prognosis in diffuse large B-cell lymphoma. 62
35092504 2022
29
Immunophenotypic Landscape and Prognosis-Related mRNA Signature in Diffuse Large B Cell Lymphoma. 62
35754837 2022
30
Identification of differentially expressed genes and pathways for risk stratification in HPV-associated cancers governing different anatomical sites. 62
35090306 2022
31
Identification of potential biomarkers and pathways associated with carotid atherosclerotic plaques in type 2 diabetes mellitus: A transcriptomics study. 62
36187128 2022
32
Transcriptomic signatures associated with autoimmune thyroiditis in papillary thyroid carcinoma and cancer immunotherapy-induced thyroid dysfunction. 62
35664236 2022
33
Transcriptome Profiling and Network Analysis Provide Insights Into the Pathogenesis of Vulvar Lichen Sclerosus. 62
35783265 2022
34
CD3D Is an Independent Prognostic Factor and Correlates With Immune Infiltration in Gastric Cancer. 62
35719985 2022
35
Dual immunological and proliferative regulation of immune checkpoint FGL1 in lung adenocarcinoma: The pivotal role of the YY1-FGL1-MYH9 axis. 62
36268014 2022
36
Repression of enhancer RNA PHLDA1 promotes tumorigenesis and progression of Ewing sarcoma via decreasing infiltrating T-lymphocytes: A bioinformatic analysis. 62
36092920 2022
37
Identification of mRNA expression biomarkers associated with epilepsy and response to valproate with co-expression analysis. 62
36330432 2022
38
Gene set-based identification of two immune subtypes of diffuse large B cell lymphoma for guiding immune checkpoint blocking therapy. 62
36276947 2022
39
The commonness in immune infiltration of rheumatoid arthritis and atherosclerosis: Screening for central targets via microarray data analysis. 62
36311761 2022
40
Identification of potential key genes for immune infiltration in childhood asthma by data mining and biological validation. 62
36118895 2022
41
Blood transcriptome analysis revealed the immune changes and immunological adaptation of wildness training giant pandas. 62
34985592 2022
42
Study on the role of immune‑related genes after intracranial subarachnoid hemorrhage. 62
36214715 2022
43
Molecular Biology Networks and Key Gene Regulators for Inflammatory Biomarkers Shared by Breast Cancer Development: Multi-Omics Systems Analysis. 62
34572592 2021
44
CML derived exosomes promote tumor favorable functional performance in T cells. 62
34493241 2021
45
Surface Ligand Valency and Immunoliposome Binding: when More Is Not Always Better. 62
34463936 2021
46
Effects of age on immune function in broiler chickens. 62
33731181 2021
47
Concomitant overexpression of mir-182-5p and mir-182-3p raises the possibility of IL-17-producing Treg formation in breast cancer by targeting CD3d, ITK, FOXO1, and NFATs: A meta-analysis and experimental study. 62
33283362 2021
48
Exploration of a Robust and Prognostic Immune Related Gene Signature for Cervical Squamous Cell Carcinoma. 62
33748188 2021
49
Multi-Omics Data Analyses Construct a Six Immune-Related Genes Prognostic Model for Cervical Cancer in Tumor Microenvironment. 62
34108992 2021
50
CD3G or CD3D Knockdown in Mature, but Not Immature, T Lymphocytes Similarly Cripples the Human TCRαβ Complex. 62
34249896 2021

Variations for Immunodeficiency 19

ClinVar genetic disease variations for Immunodeficiency 19:

5 (show top 50) (show all 103)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CD3D NM_000732.6(CD3D):c.279C>A (p.Cys93Ter) SNV Pathogenic
12748 rs111033581 GRCh37: 11:118210617-118210617
GRCh38: 11:118339902-118339902
2 CD3D NM_000732.6(CD3D):c.274+5G>A SNV Pathogenic
180674 rs730880296 GRCh37: 11:118211085-118211085
GRCh38: 11:118340370-118340370
3 CD3D NM_000732.6(CD3D):c.128G>A (p.Trp43Ter) SNV Pathogenic
643120 rs1591278347 GRCh37: 11:118211236-118211236
GRCh38: 11:118340521-118340521
4 CD3D NM_000732.6(CD3D):c.51_52del (p.Gln18fs) DEL Pathogenic
1075708 GRCh37: 11:118213271-118213272
GRCh38: 11:118342556-118342557
5 overlap with 33 genes NC_000011.9:g.(?_117856768)_(118972385_?)del DEL Pathogenic
831101 GRCh37: 11:117856768-118972385
GRCh38:
6 CD3D NM_000732.6(CD3D):c.202C>T (p.Arg68Ter) SNV Pathogenic
12747 rs111033580 GRCh37: 11:118211162-118211162
GRCh38: 11:118340447-118340447
7 CD3D NM_000732.6(CD3D):c.407-1G>A SNV Likely Pathogenic
1508408 GRCh37: 11:118210210-118210210
GRCh38: 11:118339495-118339495
8 CD3D NM_000732.6(CD3D):c.407-2A>G SNV Likely Pathogenic
1468778 GRCh37: 11:118210211-118210211
GRCh38: 11:118339496-118339496
9 CD3D NM_000732.6(CD3D):c.52C>A (p.Gln18Lys) SNV Conflicting Interpretations Of Pathogenicity
541671 rs141902449 GRCh37: 11:118213271-118213271
GRCh38: 11:118342556-118342556
10 CD3D NM_000732.6(CD3D):c.510C>T (p.Asn170=) SNV Conflicting Interpretations Of Pathogenicity
302670 rs146997233 GRCh37: 11:118209883-118209883
GRCh38: 11:118339168-118339168
11 CD3D NM_000732.6(CD3D):c.463C>T (p.Arg155Ter) SNV Uncertain Significance
474829 rs777721098 GRCh37: 11:118209930-118209930
GRCh38: 11:118339215-118339215
12 CD3D NM_000732.6(CD3D):c.28C>G (p.Leu10Val) SNV Uncertain Significance
1056415 GRCh37: 11:118213295-118213295
GRCh38: 11:118342580-118342580
13 CD3D NM_000732.6(CD3D):c.412G>A (p.Asp138Asn) SNV Uncertain Significance
1022082 rs547344580 GRCh37: 11:118210204-118210204
GRCh38: 11:118339489-118339489
14 CD3D NM_000732.6(CD3D):c.239A>G (p.Lys80Arg) SNV Uncertain Significance
1713613 GRCh37: 11:118211125-118211125
GRCh38: 11:118340410-118340410
15 CD3D NM_000732.4(CD3D):c.-128G>T SNV Uncertain Significance
302677 rs200171722 GRCh37: 11:118213450-118213450
GRCh38: 11:118342735-118342735
16 CD3D NM_000732.6(CD3D):c.418C>G (p.Gln140Glu) SNV Uncertain Significance
1395852 GRCh37: 11:118210198-118210198
GRCh38: 11:118339483-118339483
17 CD3D NM_000732.6(CD3D):c.187C>T (p.Arg63Cys) SNV Uncertain Significance
1020817 rs149264725 GRCh37: 11:118211177-118211177
GRCh38: 11:118340462-118340462
18 CD3D NM_000732.6(CD3D):c.76A>G (p.Ile26Val) SNV Uncertain Significance
541672 rs201374139 GRCh37: 11:118211288-118211288
GRCh38: 11:118340573-118340573
19 CD3D NM_000732.6(CD3D):c.244A>G (p.Lys82Glu) SNV Uncertain Significance
541674 rs1555119773 GRCh37: 11:118211120-118211120
GRCh38: 11:118340405-118340405
20 CD3D NM_000732.6(CD3D):c.485A>T (p.His162Leu) SNV Uncertain Significance
639952 rs1246867427 GRCh37: 11:118209908-118209908
GRCh38: 11:118339193-118339193
21 CD3D NM_000732.6(CD3D):c.440A>G (p.Gln147Arg) SNV Uncertain Significance
645619 rs45510201 GRCh37: 11:118210176-118210176
GRCh38: 11:118339461-118339461
22 CD3D NM_000732.6(CD3D):c.211T>C (p.Tyr71His) SNV Uncertain Significance
656796 rs377725940 GRCh37: 11:118211153-118211153
GRCh38: 11:118340438-118340438
23 CD3D NM_000732.6(CD3D):c.60C>G (p.Ser20Arg) SNV Uncertain Significance
658379 rs529268621 GRCh37: 11:118211304-118211304
GRCh38: 11:118340589-118340589
24 CD3D NM_000732.6(CD3D):c.418C>A (p.Gln140Lys) SNV Uncertain Significance
541673 rs201126605 GRCh37: 11:118210198-118210198
GRCh38: 11:118339483-118339483
25 CD3D NM_000732.6(CD3D):c.450+6C>T SNV Uncertain Significance
35805 rs193922617 GRCh37: 11:118210160-118210160
GRCh38: 11:118339445-118339445
26 overlap with 33 genes NC_000011.9:g.(?_117856768)_(118972385_?)dup DUP Uncertain Significance
1007237 GRCh37: 11:117856768-118972385
GRCh38:
27 CD3D NM_000732.6(CD3D):c.274+4C>T SNV Uncertain Significance
302671 rs201299420 GRCh37: 11:118211086-118211086
GRCh38: 11:118340371-118340371
28 CD3D NM_000732.6(CD3D):c.455T>C (p.Leu152Pro) SNV Uncertain Significance
849523 rs1377972098 GRCh37: 11:118209938-118209938
GRCh38: 11:118339223-118339223
29 CD3D NM_000732.6(CD3D):c.416C>T (p.Thr139Ile) SNV Uncertain Significance
420806 rs527584796 GRCh37: 11:118210200-118210200
GRCh38: 11:118339485-118339485
30 CD3D NM_000732.6(CD3D):c.457C>T (p.Arg153Ter) SNV Uncertain Significance
940758 rs201994476 GRCh37: 11:118209936-118209936
GRCh38: 11:118339221-118339221
31 CD3D NM_000732.6(CD3D):c.152T>C (p.Leu51Pro) SNV Uncertain Significance
1017550 rs200037447 GRCh37: 11:118211212-118211212
GRCh38: 11:118340497-118340497
32 CD3D NM_000732.6(CD3D):c.235_237del (p.Tyr79del) DEL Uncertain Significance
1430925 GRCh37: 11:118211127-118211129
GRCh38: 11:118340412-118340414
33 CD3D NM_000732.6(CD3D):c.275T>C (p.Met92Thr) SNV Uncertain Significance
1475297 GRCh37: 11:118210621-118210621
GRCh38: 11:118339906-118339906
34 CD3D NM_000732.6(CD3D):c.343A>T (p.Thr115Ser) SNV Uncertain Significance
1479199 GRCh37: 11:118210553-118210553
GRCh38: 11:118339838-118339838
35 CD3D NM_000732.6(CD3D):c.167C>T (p.Thr56Ile) SNV Uncertain Significance
1502045 GRCh37: 11:118211197-118211197
GRCh38: 11:118340482-118340482
36 CD3D NM_000732.6(CD3D):c.189C>T (p.Arg63=) SNV Uncertain Significance
1499666 GRCh37: 11:118211175-118211175
GRCh38: 11:118340460-118340460
37 CD3D NM_000732.6(CD3D):c.-46T>C SNV Uncertain Significance
302675 rs886047740 GRCh37: 11:118213368-118213368
GRCh38: 11:118342653-118342653
38 CD3D NM_000732.6(CD3D):c.121A>G (p.Ile41Val) SNV Uncertain Significance
302672 rs886047737 GRCh37: 11:118211243-118211243
GRCh38: 11:118340528-118340528
39 CD3D NM_000732.6(CD3D):c.-93C>T SNV Uncertain Significance
302676 rs772705529 GRCh37: 11:118213415-118213415
GRCh38: 11:118342700-118342700
40 CD3D NM_000732.6(CD3D):c.-44G>A SNV Uncertain Significance
302674 rs886047739 GRCh37: 11:118213366-118213366
GRCh38: 11:118342651-118342651
41 CD3D NM_000732.6(CD3D):c.457C>G (p.Arg153Gly) SNV Uncertain Significance
653087 rs201994476 GRCh37: 11:118209936-118209936
GRCh38: 11:118339221-118339221
42 CD3D NM_000732.6(CD3D):c.-8G>A SNV Uncertain Significance
877885 rs201539938 GRCh37: 11:118213330-118213330
GRCh38: 11:118342615-118342615
43 CD3D NM_000732.6(CD3D):c.-77G>A SNV Uncertain Significance
877886 rs1006260323 GRCh37: 11:118213399-118213399
GRCh38: 11:118342684-118342684
44 CD3D NM_000732.6(CD3D):c.450+7G>T SNV Uncertain Significance
879824 rs201810356 GRCh37: 11:118210159-118210159
GRCh38: 11:118339444-118339444
45 CD3D NM_000732.6(CD3D):c.356C>T (p.Ala119Val) SNV Uncertain Significance
952605 rs1948284280 GRCh37: 11:118210540-118210540
GRCh38: 11:118339825-118339825
46 CD3D NM_000732.6(CD3D):c.435T>A (p.Asn145Lys) SNV Uncertain Significance
1391251 GRCh37: 11:118210181-118210181
GRCh38: 11:118339466-118339466
47 CD3D NM_000732.6(CD3D):c.140C>T (p.Thr47Met) SNV Uncertain Significance
1403823 GRCh37: 11:118211224-118211224
GRCh38: 11:118340509-118340509
48 CD3D NM_000732.6(CD3D):c.406+5G>A SNV Uncertain Significance
1402654 GRCh37: 11:118210485-118210485
GRCh38: 11:118339770-118339770
49 CD3D NM_000732.6(CD3D):c.55+5G>A SNV Uncertain Significance
1421439 GRCh37: 11:118213263-118213263
GRCh38: 11:118342548-118342548
50 CD3D NM_000732.6(CD3D):c.317G>A (p.Gly106Asp) SNV Uncertain Significance
840028 rs996998665 GRCh37: 11:118210579-118210579
GRCh38: 11:118339864-118339864

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 34)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.19 ZAP70 CD3G CD3D CD247
2
Show member pathways
13.1 ZAP70 CD3G CD3D CD247
3
Show member pathways
13.03 ZAP70 CD3G CD3D CD247
4
Show member pathways
12.83 ZAP70 CD3G CD3D CD247
5
Show member pathways
12.7 CD247 CD3D CD3G ZAP70
6
Show member pathways
12.67 CD3G CD3D CD247
7
Show member pathways
12.65 ZAP70 CD3G CD3D CD247
8
Show member pathways
12.57 CD3G CD3D CD247
9
Show member pathways
12.43 ZAP70 CD3G CD3D CD247
10
Show member pathways
12.24 CD247 CD3D CD3G ZAP70
11
Show member pathways
12.22 ZAP70 CD3G CD3D CD247
12
Show member pathways
12.12 ZAP70 CD3G CD3D
13
Show member pathways
12.09 ZAP70 CD3G CD3D CD247
14
Show member pathways
12.02 CD3G CD3D CD247
15
Show member pathways
12.02 CD247 CD3D CD3G ZAP70
16
Show member pathways
11.96 ZAP70 CD3G CD3D CD247
17 11.92 CD3G CD3D CD247
18
Show member pathways
11.82 CD3G CD3D CD247
19 11.74 ZAP70 CD3G CD3D CD247
20 11.74 ZAP70 CD3G CD3D CD247
21
Show member pathways
11.65 ZAP70 CD3G CD247
22 11.55 PTCRA ADA
23 11.5 CD3G CD3D CD247
24
Show member pathways
11.48 CD3G CD3D CD247
25
Show member pathways
11.46 ZAP70 CD3G CD3D CD247
26 11.33 ZAP70 CD3G CD3D CD247
27 11.29 CD3G CD3D CD247
28 11.24 CD3G CD3D CD247
29 11.22 ZAP70 CD3G CD3D CD247
30 11.1 CD3G CD3D CD247
31 11.1 ZAP70 CD3G CD3D CD247
32 11.03 CD3G CD247
33 10.91 ZAP70 CD3G CD3D
34 10.62 ZAP70 CD3G CD3D CD247

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 T cell receptor complex GO:0042101 9.63 ZAP70 CD3D CD247
2 immunological synapse GO:0001772 9.56 ZAP70 CORO1A
3 gamma-delta T cell receptor complex GO:0042106 9.26 CD3G CD247
4 alpha-beta T cell receptor complex GO:0042105 9.1 CD3G CD3D CD247

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 adaptive immune response GO:0002250 10.08 ZAP70 CD3G CD3D CD247
2 cell surface receptor signaling pathway GO:0007166 10.03 CD3G CD3D CD247
3 positive regulation of calcium-mediated signaling GO:0050850 9.81 ZAP70 ADA
4 immune system process GO:0002376 9.8 CD247 CD3D CD3G ZAP70
5 positive regulation of alpha-beta T cell differentiation GO:0046638 9.73 ZAP70 ADA
6 positive thymic T cell selection GO:0045059 9.73 ZAP70 CD3G CD3D
7 T cell differentiation GO:0030217 9.72 ZAP70 ADA
8 positive regulation of T cell differentiation GO:0045582 9.71 ZAP70 ADA
9 negative regulation of thymocyte apoptotic process GO:0070244 9.71 PTCRA ADA
10 T cell activation GO:0042110 9.7 ZAP70 CORO1A CD3G ADA
11 gamma-delta T cell activation GO:0046629 9.67 CD247 CD3G
12 T cell migration GO:0072678 9.63 ZAP70 CORO1A
13 positive regulation of T cell activation GO:0050870 9.52 CORO1A ADA
14 alpha-beta T cell differentiation GO:0046632 9.5 ZAP70 ADA
15 alpha-beta T cell activation GO:0046631 9.43 CD3G CD3D CD247
16 T cell receptor signaling pathway GO:0050852 9.32 ZAP70 CD3G CD3D CD247 ADA

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.1 CD3G CD3D CD247

Sources for Immunodeficiency 19

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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