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

IMD19 MCID: IMM081 MIFTS: 43	Immunodeficiency 19 (IMD19) Categories: Genetic diseases, Immune diseases, Infectious diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Immunodeficiency 19

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

MedGen ⁴³ C3810147 CN184331

SNOMED-CT via HPO ⁷⁰ 234532001 258211005 267060006 more

UMLS ⁷⁴ C3810147

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Summaries for Immunodeficiency 19

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 t cells, b 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

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

(show all 19)

#	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	31.7	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	10.8
11	cutaneous leishmaniasis	10.8
12	leukemia, acute lymphoblastic	10.1
13	acute lymphocytic leukemia	10.1
14	diabetes mellitus	10.1
15	leukemia	10.1
16	lymphocytic leukemia	10.1
17	acute t cell leukemia	10.1
18	immune defect due to absence of thymus	9.8	CD3G ZAP70
19	t cell deficiency	9.6	CD3G ZAP70

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:

³³ (show all 6)

#	Description	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

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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 ³⁰	CD3D

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Anatomical Context for Immunodeficiency 19

MalaCards organs/tissues related to Immunodeficiency 19:

⁴²

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

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Publications for Immunodeficiency 19

Articles related to Immunodeficiency 19:

#	Title	Authors	Year
1	Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID. ( 21883749 )	Yu GP...Cowan MJ	2011
2	A leaky mutation in CD3D differentially affects αβ and γδ T cells and leads to a Tαβ-Tγδ+B+NK+ human SCID. ( 21926461 )	Gil J...Regueiro JR	2011
3	Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency. ( 14602880 )	Dadi HK...Roifman CM	2003
4	CD3delta couples T-cell receptor signalling to ERK activation and thymocyte positive selection. ( 10935641 )	Delgado P...Alarc?n B	2000
5	CD3 delta deficiency arrests development of the alpha beta but not the gamma delta T cell lineage. ( 9135151 )	Dave VP...Kappes DJ	1997

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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	PubmedIds
1	CD3D	CD3d Molecule	Protein Coding	1035.11	Molecular basis known ⁵⁸ Pathogenic ⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	14602880 10935641 21883749 (more) 21926461
2	CD3G	CD3g Molecule	Protein Coding	24.14	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
3	ZAP70	Zeta Chain Of T Cell Receptor Associated Protein Kinase 70	Protein Coding	15.72	DISEASES inferred ¹⁵
4	JAK3	Janus Kinase 3	Protein Coding	14.8	DISEASES inferred ¹⁵
5	IKBKB	Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Beta	Protein Coding	14.65	DISEASES inferred ¹⁵

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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.279C> A (p.Cys93Ter)	single nucleotide variant	Pathogenic	rs111033581	GRCh37	Chromosome 11, 118210617: 118210617
2	CD3D	NM_000732.4(CD3D): c.279C> A (p.Cys93Ter)	single nucleotide variant	Pathogenic	rs111033581	GRCh38	Chromosome 11, 118339902: 118339902
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.202C> T (p.Arg68Ter)	single nucleotide variant	Pathogenic	rs111033580	GRCh37	Chromosome 11, 118211162: 118211162
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	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	GRCh38	Chromosome 11, 118342556: 118342556
16	CD3D	NM_000732.4(CD3D): c.52C> A (p.Gln18Lys)	single nucleotide variant	Uncertain significance	rs141902449	GRCh37	Chromosome 11, 118213271: 118213271
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

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Expression for Immunodeficiency 19

Search GEO for disease gene expression data for Immunodeficiency 19.

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Pathways for Immunodeficiency 19

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 Immune System ⁶⁷ Neutrophil degranulation ⁶⁷	13.66	CD3D CD3G IKBKB JAK3 ZAP70
2	GPCR Pathway ⁶⁵ Show member pathways Breast Cancer Regulation by Stathmin1 ⁶⁵ Estrogen Pathway ⁶⁵ NFAT in Immune Response ⁶⁵ P2Y Receptor Signaling ⁶⁵ Pancreatic Adenocarcinoma ⁶⁵ Paxillin Interactions ⁶⁵ Ras Pathway ⁶⁵	13.41	CD3D CD3G IKBKB JAK3 ZAP70
3	PEDF Induced Signaling ⁶⁵ Show member pathways all-trans-Retinoic Acid Signaling in Brain ⁶⁵ Cytokine-cytokine receptor interaction ³⁸ Endothelin-1 Signaling Pathway ⁶⁵ Glucocorticoid Receptor Signaling ⁶⁵ IL-6 Pathway ⁶⁵ MIF Mediated Glucocorticoid Regulation ⁶⁵ MIF Regulation of Innate Immune Cells ⁶⁵ NFAT Signaling and Lymphocyte Interactions ⁶⁵ PGC1Alpha Pathway ⁶⁵ RAR-Gamma-RXR-Alpha Degradation ⁶⁵ STAT3 Pathway ⁶⁵	13.33	CD3D CD3G IKBKB JAK3
4	Class I MHC mediated antigen processing and presentation ⁶⁷ Show member pathways Adaptive Immune System ⁶⁷ Antigen processing- Ubiquitination and Proteasome degradation ⁶⁷	13.14	CD3D CD3G IKBKB ZAP70
5	Akt Signaling ⁶⁵ Show member pathways p38 Signaling ⁶⁵ Tec Kinases Signaling ⁶⁵	13.11	CD3D CD3G IKBKB JAK3 ZAP70
6	Toll-like Receptor Signaling Pathway ¹ ³⁸ Show member pathways Chagas disease (American trypanosomiasis) ³⁸ Hepatitis B ³⁸ Hepatitis C ³⁸ NOD-like Receptor Signaling Pathways ⁶⁶ Regulation of toll-like receptor signaling pathway ¹	12.8	CD3D CD3G IKBKB
7	Phospholipase-C Pathway ⁶⁵ Show member pathways PTEN Pathway ⁶⁵	12.77	CD3D CD3G ZAP70
8	Development Angiotensin activation of ERK ²³ Show member pathways Cell adhesion Integrin inside-out signaling ²³ Development ACM2 and ACM4 activation of ERK ²³ Development Angiotensin signaling via PYK2 ²³ Development EDNRB signaling ²³ Development EPO-induced MAPK pathway ²³ Development G-Proteins mediated regulation MARK-ERK signaling ²³ Signal transduction IP3 signaling ²³	12.69	CD3D CD3G IKBKB ZAP70
9	Human cytomegalovirus infection ³⁸ Show member pathways Human immunodeficiency virus 1 infection ³⁸ Kaposi sarcoma-associated herpesvirus infection ³⁸	12.67	CD3D CD3G IKBKB
10	CCR5 Pathway in Macrophages ⁶⁵ Show member pathways Androgen Signaling ⁶⁵ Chemokine Signaling ⁶⁵ Chemokine signaling pathway ³⁸	12.66	CD3D CD3G IKBKB JAK3
11	Allograft rejection ³⁸ ¹ Show member pathways Antigen processing and presentation ³⁸ Asthma ³⁸ Autoimmune thyroid disease ³⁸ CTL Mediated Apoptosis ⁶⁵ Graft-versus-host disease ³⁸ Intestinal immune network for IgA production ³⁸ THC Differentiation Pathway ⁶⁵ Type I diabetes mellitus ³⁸ Viral myocarditis ³⁸	12.65	CD3D CD3G IKBKB ZAP70
12	Immune response NFAT in immune response ²³ Show member pathways Immune response CD28 signaling ²³ Immune response ICOS pathway in T-helper cell ²³ Immune response T cell receptor signaling pathway ²³	12.42	CD3D CD3G IKBKB ZAP70
13	NF-kappaB Signaling ⁴	12.35	IKBKB JAK3 ZAP70
14	T cell receptor signaling pathway ³⁸ Show member pathways PD-L1 expression and PD-1 checkpoint pathway in cancer ³⁸ T-Cell antigen Receptor (TCR) Signaling Pathway ¹ T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection ¹	12.33	CD3D CD3G IKBKB ZAP70
15	TCR Signaling (Qiagen) ⁶⁵ Show member pathways Fc-EpsilonRI Pathway ⁶⁵ ITK and TCR Signaling ⁶⁵ PKC-Theta Pathway ⁶⁵ TCR Signaling ⁶⁵	12.33	CD3D CD3G IKBKB JAK3 ZAP70
16	Development EGFR signaling pathway ²³ Show member pathways Development ERBB-family signaling ²³ EGF Pathway ⁶⁵ EGFR Signaling Pathway ⁶⁸ ErbB receptor signaling network ¹	12.32	CD3D CD3G IKBKB
17	Antigen processing-Cross presentation ⁶⁷ Show member pathways Cross-presentation of particulate exogenous antigens (phagosomes) ⁶⁷ Endosomal/Vacuolar pathway ⁶⁷ ER-Phagosome pathway ⁶⁷ Immune response Antigen presentation by MHC class I ²³	12.27	CD3D CD3G IKBKB
18	ICos-ICosL Pathway in T-Helper Cell ⁶⁵ Show member pathways Calcium Mediated T-Cell Apoptosis ⁶⁵ CD28 Signaling in T-Helper Cell ⁶⁵	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 TCR signaling ⁶⁷	12.05	CD3D CD3G IKBKB ZAP70
21	B Cell Receptor Signaling Pathway (sino) ⁶⁸ Show member pathways T Cell Receptor Signaling Pathway ⁶⁸	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 Immune response IL-12-induced IFN-gamma production ²³	11.81	CD3D CD3G IKBKB
24	Reelin Pathway (Cajal-Retzius cells) ⁶⁵	11.79	CD3D CD3G ZAP70
25	Translocation of ZAP-70 to Immunological synapse ⁶⁷ Show member pathways Generation of second messenger molecules ⁶⁷ PD-1 signaling ⁶⁷ Phosphorylation of CD3 and TCR zeta chains ⁶⁷	11.79	CD3D CD3G ZAP70
26	S-1P Stimulated Signaling ⁶⁵	11.78	CD3D CD3G ZAP70
27	G-protein signaling N-RAS regulation pathway ²³ Show member pathways Immune response Antigen presentation by MHC class II ²³	11.77	CD3D CD3G ZAP70
28	Immune response IL-2 activation and signaling pathway ²³ Show member pathways Immune response IL-3 activation and signaling pathway ²³	11.72	IKBKB JAK3
29	Immune response Function of MEF2 in T lymphocytes ²³ Show member pathways Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis ²³	11.71	CD3D CD3G IKBKB ZAP70
30	NF-kappa B signaling pathway ³⁸	11.68	IKBKB ZAP70
31	Hematopoietic cell lineage ³⁸	11.67	CD3D CD3G
32	Cytokine production by Th17 cells in CF (Mouse model) ²³ Show member pathways Cytokine production by Th17 cells in CF ²³	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 IL-22 Pathway ⁶⁵ Immune response IL-22 signaling pathway ²³ Inflammatory bowel disease (IBD) ³⁸ Th1 and Th2 cell differentiation ³⁸	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	11.47	CD3D CD3G ZAP70
39	IL-2 Gene Expression in Activated and Quiescent T-Cells ⁶⁵ Show member pathways TOB in T-Cell Signaling ⁶⁵	11.46	CD3D CD3G IKBKB
40	Downstream signaling in naive CD8+ T cells ¹ Show member pathways Ras signaling in the CD4+ TCR pathway ¹	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 TCR signaling in naive CD8+ T cells ¹	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	11.19	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 XAV939 inhibits tankyrase, stabilizing AXIN ⁶⁷	11	IKBKB JAK3

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	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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Immunodeficiency 19 (IMD19)

Aliases & Classifications for Immunodeficiency 19

MalaCards integrated aliases for Immunodeficiency 19:

Characteristics:

OMIM:

HPO:

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:

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

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

MalaCards 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