Immunodeficiency 19 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Infectious diseases
Anatomical: Immune diseases Respiratory diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0060016 DOID:0111972

OMIM® ⁵⁷ 615617

OMIM Phenotypic Series ⁵⁷ PS300755,PS601457

MeSH ⁴³ D007153

MedGen ⁴⁰ C3810147 CN184331

SNOMED-CT via HPO ⁶⁹ 234532001 267060006 36440009 more

UMLS ⁷¹ C3810147

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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.

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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:

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Symptoms & Phenotypes for Immunodeficiency 19

Human phenotypes related to Immunodeficiency 19:

³⁰ (show all 6)

#	Description	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

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Drugs & Therapeutics for Immunodeficiency 19

Search Clinical Trials, NIH Clinical Center for Immunodeficiency 19

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Genetic Tests for Immunodeficiency 19

Genetic tests related to Immunodeficiency 19:

#	Genetic test	Affiliating Genes
1	Immunodeficiency 19 ²⁸	CD3D

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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

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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	Yu GP...Cowan MJ	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	Gil J...Regueiro JR	21926461	2011
3	Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. ⁶² ⁵⁷ ⁵	de Saint Basile G...Le Deist F	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	Dadi HK...Roifman CM	14602880	2003
5	Human CD3γ, but not CD3δ, haploinsufficiency differentially impairs γδ versus αβ surface TCR expression. ⁶² ⁵	Munoz-Ruiz M...Regueiro JR	23336327	2013
6	Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies. ⁵	Cifaldi C...Di Matteo G	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	Garcillan B...Regueiro JR	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	Buratti E...Vorechovsky I	17576681	2007
10	Splicing in action: assessing disease causing sequence changes. ⁵	Baralle D...Baralle M	16199547	2005
11	CD3delta couples T-cell receptor signalling to ERK activation and thymocyte positive selection. ⁵	Delgado P...Alarcon B	10935641	2000
12	Statistical features of human exons and their flanking regions. ⁵	Zhang MQ	9536098	1998
13	Autoimmune gene expression profiling of fingerstick whole blood in Chronic Fatigue Syndrome. ⁶²	Wang Z...Hersey SA	36284352	2022
14	Radiotherapy-Related Gene Signature in Prostate Cancer. ⁶²	Fortis SP...Baxevanis CN	36291815	2022
15	FGFR1/MAPK-directed brachyury activation drives PD-L1-mediated immune evasion to promote lung cancer progression. ⁶²	Hu Y...Hsu W	35985510	2022
16	The Immune Subtypes and Landscape of Advanced-Stage Ovarian Cancer. ⁶²	Zhang M...Ge R	36146529	2022
17	Severe combined immunodeficiencies: Expanding the mutation spectrum in Turkey and identification of 12 novel variants. ⁶²	Aykut A...Kutukculer N	35303369	2022
18	CD3D: a prognostic biomarker associated with immune infiltration and immunotherapeutic response in head and neck squamous cell carcinoma. ⁶²	Wei Z...Shen Z	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	Milenkovic U...Albersen M	33962884	2022
20	Overcoming biases in causal inference of molecular interactions. ⁶²	Kumar S...Song M	35385081	2022
21	Overexpression of miR-490-5p/miR-490-3p Potentially Induces IL-17-Producing T Cells in Patients With Breast Cancer. ⁶²	Seif F...Pornour M	35445179	2022
22	A novel 4 immune-related genes as diagnostic markers and correlated with immune infiltrates in major depressive disorder. ⁶²	Ning L...Deng D	35152883	2022
23	Identifying the Hub Genes and Immune Cell Infiltration in Synovial Tissue between Osteoarthritic and Rheumatoid Arthritic Patients by Bioinformatic Approach. ⁶²	Wang J...Zhang Y	34736376	2022
24	Single-Cell RNA and ATAC Sequencing Reveal Hemodialysis-Related Immune Dysregulation of Circulating Immune Cell Subpopulations. ⁶²	Wu H...Dai Y	35720370	2022
25	Early-Life Exposure of Pigs to Topsoil Alters miRNA and mRNA Expression in Peripheral Blood Mononuclear Cells. ⁶²	De Souza MM...Koltes JE	36081988	2022
26	Screening of Sepsis Biomarkers Based on Bioinformatics Data Analysis. ⁶²	Liang G...He Z	36199375	2022
27	Analysis of Sepsis Markers and Pathogenesis Based on Gene Differential Expression and Protein Interaction Network. ⁶²	Liang J...Jiang M	35190763	2022
28	Immune microenvironment-related gene mapping predicts immunochemotherapy response and prognosis in diffuse large B-cell lymphoma. ⁶²	Chen W...Zhou H	35092504	2022
29	Immunophenotypic Landscape and Prognosis-Related mRNA Signature in Diffuse Large B Cell Lymphoma. ⁶²	Jiang Y...Zhao Z	35754837	2022
30	Identification of differentially expressed genes and pathways for risk stratification in HPV-associated cancers governing different anatomical sites. ⁶²	Kwon EJ...Jang JY	35090306	2022
31	Identification of potential biomarkers and pathways associated with carotid atherosclerotic plaques in type 2 diabetes mellitus: A transcriptomics study. ⁶²	Yu T...Liu R	36187128	2022
32	Transcriptomic signatures associated with autoimmune thyroiditis in papillary thyroid carcinoma and cancer immunotherapy-induced thyroid dysfunction. ⁶²	Li Y...Teng H	35664236	2022
33	Transcriptome Profiling and Network Analysis Provide Insights Into the Pathogenesis of Vulvar Lichen Sclerosus. ⁶²	Wang L...Pan J	35783265	2022
34	CD3D Is an Independent Prognostic Factor and Correlates With Immune Infiltration in Gastric Cancer. ⁶²	Yuan L...Yao Q	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	Tang XY...Zhao JB	36268014	2022
36	Repression of enhancer RNA PHLDA1 promotes tumorigenesis and progression of Ewing sarcoma via decreasing infiltrating T-lymphocytes: A bioinformatic analysis. ⁶²	Huang R...Yin H	36092920	2022
37	Identification of mRNA expression biomarkers associated with epilepsy and response to valproate with co-expression analysis. ⁶²	Min J...Luo X	36330432	2022
38	Gene set-based identification of two immune subtypes of diffuse large B cell lymphoma for guiding immune checkpoint blocking therapy. ⁶²	Li Z...Zhu X	36276947	2022
39	The commonness in immune infiltration of rheumatoid arthritis and atherosclerosis: Screening for central targets via microarray data analysis. ⁶²	Wang Z...Jiang T	36311761	2022
40	Identification of potential key genes for immune infiltration in childhood asthma by data mining and biological validation. ⁶²	Wang Z...Luo Z	36118895	2022
41	Blood transcriptome analysis revealed the immune changes and immunological adaptation of wildness training giant pandas. ⁶²	Yang M...Zhang X	34985592	2022
42	Study on the role of immune‑related genes after intracranial subarachnoid hemorrhage. ⁶²	Li Q...Zhang Y	36214715	2022
43	Molecular Biology Networks and Key Gene Regulators for Inflammatory Biomarkers Shared by Breast Cancer Development: Multi-Omics Systems Analysis. ⁶²	Jung SY...Sobel EM	34572592	2021
44	CML derived exosomes promote tumor favorable functional performance in T cells. ⁶²	Jafarzadeh N...Pornour M	34493241	2021
45	Surface Ligand Valency and Immunoliposome Binding: when More Is Not Always Better. ⁶²	Li H...Zhang N	34463936	2021
46	Effects of age on immune function in broiler chickens. ⁶²	Song B...Guo Y	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	Soheilifar MH...Pornour M	33283362	2021
48	Exploration of a Robust and Prognostic Immune Related Gene Signature for Cervical Squamous Cell Carcinoma. ⁶²	Zuo Z...Guo Y	33748188	2021
49	Multi-Omics Data Analyses Construct a Six Immune-Related Genes Prognostic Model for Cervical Cancer in Tumor Microenvironment. ⁶²	Xu F...Xu S	34108992	2021
50	CD3G or CD3D Knockdown in Mature, but Not Immature, T Lymphocytes Similarly Cripples the Human TCRαβ Complex. ⁶²	Garcillan B...Regueiro JR	34249896	2021

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Genes for Immunodeficiency 19

Genes related to Immunodeficiency 19 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CD3D	CD3 Delta Subunit Of T-Cell Receptor Complex	Protein Coding	1039.84	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	9536098 10935641 14602880 (more) 15546002 17576681 21883749 21926461 23336327 24290291 25344390 31031743 16199547
2	CD3G	CD3 Gamma Subunit Of T-Cell Receptor Complex	Protein Coding	6.94	DISEASES inferred ¹⁴
3	PTCRA	Pre T Cell Antigen Receptor Alpha	Protein Coding	5.33	DISEASES inferred ¹⁴
4	CORO1A	Coronin 1A	Protein Coding	5.29	DISEASES inferred ¹⁴
5	ZAP70	Zeta Chain Of T Cell Receptor Associated Protein Kinase 70	Protein Coding	4.98	DISEASES inferred ¹⁴
6	CD247	CD247 Molecule	Protein Coding	4.95	DISEASES inferred ¹⁴
7	ADA	Adenosine Deaminase	Protein Coding	4.79	DISEASES inferred ¹⁴

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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

Sources

Expression for Immunodeficiency 19

Search GEO for disease gene expression data for Immunodeficiency 19.

Sources

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	Class I MHC mediated antigen processing and presentation ⁶⁶ Show member pathways Adaptive Immune System ⁶⁶ Antigen processing: Ubiquitination and Proteasome degradation ⁶⁶ Neddylation ⁶⁶	13.19	ZAP70 CD3G CD3D CD247
2	Akt Signaling ⁶⁴ Show member pathways p38 Signaling ⁶⁴ Tec Kinases Signaling ⁶⁴	13.1	ZAP70 CD3G CD3D CD247
3	CREB Pathway ⁶⁴ Show member pathways Activation of PKC through GPCR ⁶⁴ Intracellular Calcium Signaling ⁶⁴ IP3 Pathway ⁶⁴	13.03	ZAP70 CD3G CD3D CD247
4	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	12.83	ZAP70 CD3G CD3D CD247
5	TCR Signaling (Qiagen) ⁶⁴ Show member pathways Fc-EpsilonRI Pathway ⁶⁴ ITK and TCR Signaling ⁶⁴ PDGF Pathway ⁶⁴ PKC-Theta Pathway ⁶⁴	12.7	CD247 CD3D CD3G ZAP70
6	Actin Nucleation by ARP-WASP Complex ⁶⁴ Show member pathways Actin Nucleation and Branching ⁶⁴ CDC42 Pathway ⁶⁴ RhoA Pathway ⁶⁴	12.67	CD3G CD3D CD247
7	Development Angiotensin activation of ERK ²² Show member pathways Cell adhesion Integrin inside-out signaling ²² Development ACM2 and ACM4 activation of ERK ²² Development Angiotensin signaling via PYK2 ²² Development EDNRB signaling ²² Development EPO-induced MAPK pathway ²² Development G-Proteins mediated regulation MARK-ERK signaling ²² Signal transduction IP3 signaling ²²	12.65	ZAP70 CD3G CD3D CD247
8	CCR5 Pathway in Macrophages ⁶⁴ Show member pathways Androgen Signaling ⁶⁴ Chemokine Signaling ⁶⁴ Chemokine signaling pathway ⁷⁴	12.57	CD3G CD3D CD247
9	Immune response NFAT in immune response ²² Show member pathways Immune response CD28 signaling ²² Immune response ICOS pathway in T-helper cell ²² Immune response T cell receptor signaling pathway ²²	12.43	ZAP70 CD3G CD3D CD247
10	CD28 co-stimulation ⁶⁶ Show member pathways Activation of AKT2 ⁶⁶ CD28 dependent PI3K/Akt signaling ⁶⁶ CD28 dependent Vav1 pathway ⁶⁶ Costimulation by the CD28 family ⁶⁶ CTLA4 Signaling ⁶⁴ VEGFR2 mediated vascular permeability ⁶⁶	12.24	CD247 CD3D CD3G ZAP70
11	TCR signaling (REACTOME) ⁶⁶ Show member pathways Downstream TCR signaling ⁶⁶ Translocation of ZAP-70 to Immunological synapse ⁶⁶	12.22	ZAP70 CD3G CD3D CD247
12	B Cell Receptor Signaling Pathway ⁶⁷ Show member pathways T Cell Receptor Signaling Pathway ⁶⁷	12.12	ZAP70 CD3G CD3D
13	CD28 Signaling in T-Helper Cell ⁶⁴ Show member pathways ICos-ICosL Pathway in T-Helper Cell ⁶⁴	12.09	ZAP70 CD3G CD3D CD247
14	Immune response Antigen presentation by MHC class II ²² Show member pathways G-protein signaling N-RAS regulation pathway ²² IL-22 Pathway ⁶⁴ Immune response IL-22 signaling pathway ²²	12.02	CD3G CD3D CD247
15	Immune response Function of MEF2 in T lymphocytes ²² Show member pathways Calcium Mediated T-Cell Apoptosis ⁶⁴ Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis ²² SARS-CoV-2 targets host intracellular signalling and regulatory pathways ⁶⁶	12.02	CD247 CD3D CD3G ZAP70
16	T-cell activation SARS-CoV-2 ⁷⁴ Show member pathways T-cell antigen receptor (TCR) pathway during Staphylococcus aureus infection ⁷⁴	11.96	ZAP70 CD3G CD3D CD247
17	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell ⁶⁶	11.92	CD3G CD3D CD247
18	IL12-mediated signaling events ⁶¹ Show member pathways Immune response IL-12-induced IFN-gamma production ²²	11.82	CD3G CD3D CD247
19	S-1P Stimulated Signaling ⁶⁴	11.74	ZAP70 CD3G CD3D CD247
20	Reelin Pathway (Cajal-Retzius cells) ⁶⁴	11.74	ZAP70 CD3G CD3D CD247
21	Network map of SARS-CoV-2 signaling pathway ⁷⁴ Show member pathways Pathogenesis of SARS-CoV-2 mediated by nsp9-nsp10 complex ⁷⁴	11.65	ZAP70 CD3G CD247
22	C-MYB transcription factor network ⁶¹	11.55	PTCRA ADA
23	CXCR4-mediated signaling events ⁶¹	11.5	CD3G CD3D CD247
24	IL-2 Gene Expression in Activated and Quiescent T-Cells ⁶⁴ Show member pathways TOB in T-Cell Signaling ⁶⁴	11.48	CD3G CD3D CD247
25	Phosphorylation of CD3 and TCR zeta chains ⁶⁶ Show member pathways Generation of second messenger molecules ⁶⁶ PD-1 signaling ⁶⁶	11.46	ZAP70 CD3G CD3D CD247
26	Signal transduction_Erk Interactions- Inhibition of Erk ²²	11.33	ZAP70 CD3G CD3D CD247
27	CTL Mediated Apoptosis ⁶⁴	11.29	CD3G CD3D CD247
28	Nur77 Signaling in T-Cell ⁶⁴	11.24	CD3G CD3D CD247
29	THC Differentiation Pathway ⁶⁴	11.22	ZAP70 CD3G CD3D CD247
30	IL12 signaling mediated by STAT4 ⁶¹	11.1	CD3G CD3D CD247
31	Th17 cell differentiation pathway ⁷⁴	11.1	ZAP70 CD3G CD3D CD247
32	Role of phospholipids in phagocytosis ⁶⁶	11.03	CD3G CD247
33	Cancer immunotherapy by PD-1 blockade ⁷⁴	10.91	ZAP70 CD3G CD3D
34	G-protein signaling_Rap1A regulation pathway ²²	10.62	ZAP70 CD3G CD3D CD247

Sources

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

Sources for Immunodeficiency 19

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

IMD19 MCID: IMM081 MIFTS: 48	Immunodeficiency 19 (IMD19) Categories: Genetic diseases, Immune diseases, Infectious diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Immunodeficiency 19 (IMD19)

Aliases & Classifications for Immunodeficiency 19

MalaCards integrated aliases for Immunodeficiency 19:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Immunodeficiency 19

Related Diseases for Immunodeficiency 19

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

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

Symptoms & Phenotypes for Immunodeficiency 19

Human phenotypes related to Immunodeficiency 19:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Immunodeficiency 19:

MGI Mouse Phenotypes related to Immunodeficiency 19:

Drugs & Therapeutics for Immunodeficiency 19

Genetic Tests for Immunodeficiency 19

Genetic tests related to Immunodeficiency 19:

Anatomical Context for Immunodeficiency 19

Organs/tissues related to Immunodeficiency 19:

Publications for Immunodeficiency 19

Articles related to Immunodeficiency 19:

Genes for Immunodeficiency 19

Genes related to Immunodeficiency 19 (1 elite genes):

Variations for Immunodeficiency 19

ClinVar genetic disease variations for Immunodeficiency 19:

Expression for Immunodeficiency 19

Pathways for Immunodeficiency 19

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

GO Terms for Immunodeficiency 19

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

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

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

Sources for Immunodeficiency 19