T Cell and Nk Cell Immunodeficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for T Cell and Nk Cell Immunodeficiency

MalaCards integrated aliases for T Cell and Nk Cell Immunodeficiency:

Name: T Cell and Nk Cell Immunodeficiency ¹² ¹⁵

Classifications:

MalaCards categories:
Anatomical: Immune diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0080710

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Summaries for T Cell and Nk Cell Immunodeficiency

Disease Ontology : ¹² A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency.

MalaCards based summary : T Cell and Nk Cell Immunodeficiency is related to immunodeficiency 10 and immunodeficiency 30. An important gene associated with T Cell and Nk Cell Immunodeficiency is STIM2 (Stromal Interaction Molecule 2), and among its related pathways/superpathways are Cardiac conduction and Downstream signaling events of B Cell Receptor (BCR).

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Related Diseases for T Cell and Nk Cell Immunodeficiency

Diseases related to T Cell and Nk Cell Immunodeficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)

#	Related Disease	Score	Top Affiliating Genes
1	immunodeficiency 10	28.0	TRPC6 TRPC4 TRPC3 TRPC1 SYPL2 STIM2
2	immunodeficiency 30	11.3
3	immunodeficiency 63 with lymphoproliferation and autoimmunity	11.3
4	immunodeficiency 69	11.3
5	combined immunodeficiency due to crac channel dysfunction	10.2	STIM1 ORAI1
6	myopathy, tubular aggregate, 1	10.1	STIM2 STIM1 ORAI1
7	anemia, autoimmune hemolytic	10.1	STIM2 STIM1
8	hypertrophic pyloric stenosis	10.0	TRPC6 TRPC1
9	familial episodic pain syndrome	10.0	TRPC6 TRPC3
10	tooth ankylosis	9.9	ODAPH AMBN
11	mucolipidosis iv	9.9	TRPC6 TRPC3 TRPC1
12	brugada syndrome 4	9.9	STIM1 CACNA1C
13	mutilating palmoplantar keratoderma with periorificial keratotic plaques	9.9	TRPC6 TRPC4 TRPC3
14	hypercementosis	9.9	FAM83H AMBN
15	malignant hypertension	9.9	TRPC6 TRPC3
16	alzheimer disease 3	9.8	ORAI1 CACNA1C
17	darier-white disease	9.8	TRPC4 TRPC1
18	trichodentoosseous syndrome	9.7	ODAPH FAM83H AMBN
19	immunodeficiency 9	9.6	ROGDI ORAI1 ODAPH FAM83H
20	teeth hard tissue disease	9.6	ODAPH FAM83H AMBN
21	malignant hyperthermia	9.6	TRPC3 SYPL2 STIM1 CACNA1C
22	stormorken syndrome	9.5	TRPC3 SYPL2 STIM2 STIM1 ORAI3 ORAI2
23	progressive familial heart block	9.5	TRPC6 TRPC3 TRPC1 CACNA1C
24	amelogenesis imperfecta	9.5	ROGDI ODAPH FAM83H AMBN
25	amelogenesis imperfecta, type iiia	9.4	STIM2 STIM1 ORAI3 ORAI2 FAM83H AMBN

Graphical network of the top 20 diseases related to T Cell and Nk Cell Immunodeficiency:

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Symptoms & Phenotypes for T Cell and Nk Cell Immunodeficiency

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Drugs & Therapeutics for T Cell and Nk Cell Immunodeficiency

Search Clinical Trials , NIH Clinical Center for T Cell and Nk Cell Immunodeficiency

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Genetic Tests for T Cell and Nk Cell Immunodeficiency

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Anatomical Context for T Cell and Nk Cell Immunodeficiency

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Publications for T Cell and Nk Cell Immunodeficiency

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Genes for T Cell and Nk Cell Immunodeficiency

Genes related to T Cell and Nk Cell Immunodeficiency (0 elite genes):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	STIM2	Stromal Interaction Molecule 2	Protein Coding	8.3	DISEASES inferred ¹⁵
2	STIM1	Stromal Interaction Molecule 1	Protein Coding	8.25	DISEASES inferred ¹⁵
3	ORAI1	ORAI Calcium Release-Activated Calcium Modulator 1	Protein Coding	7.34	DISEASES inferred ¹⁵
4	ORAI2	ORAI Calcium Release-Activated Calcium Modulator 2	Protein Coding	7.25	DISEASES inferred ¹⁵
5	ORAI3	ORAI Calcium Release-Activated Calcium Modulator 3	Protein Coding	7.18	DISEASES inferred ¹⁵
6	TRPC3	Transient Receptor Potential Cation Channel Subfamily C Member 3	Protein Coding	6	DISEASES inferred ¹⁵
7	TRPC1	Transient Receptor Potential Cation Channel Subfamily C Member 1	Protein Coding	5.92	DISEASES inferred ¹⁵
8	SYPL2	Synaptophysin Like 2	Protein Coding	5.6	DISEASES inferred ¹⁵
9	TRPC4	Transient Receptor Potential Cation Channel Subfamily C Member 4	Protein Coding	5.56	DISEASES inferred ¹⁵
10	ROGDI	Rogdi Atypical Leucine Zipper	Protein Coding	5.55	DISEASES inferred ¹⁵
11	ODAPH	Odontogenesis Associated Phosphoprotein	Protein Coding	5.52	DISEASES inferred ¹⁵
12	FAM83H	Family With Sequence Similarity 83 Member H	Protein Coding	5.5	DISEASES inferred ¹⁵
13	AMBN	Ameloblastin	Protein Coding	5.35	DISEASES inferred ¹⁵
14	CACNA1C	Calcium Voltage-Gated Channel Subunit Alpha1 C	Protein Coding	5.26	DISEASES inferred ¹⁵
15	TRPC6	Transient Receptor Potential Cation Channel Subfamily C Member 6	Protein Coding	5.22	DISEASES inferred ¹⁵

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Variations for T Cell and Nk Cell Immunodeficiency

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Expression for T Cell and Nk Cell Immunodeficiency

Search GEO for disease gene expression data for T Cell and Nk Cell Immunodeficiency.

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Pathways for T Cell and Nk Cell Immunodeficiency

Pathways related to T Cell and Nk Cell Immunodeficiency according to GeneCards Suite gene sharing:

(show all 12)

#	Super pathways	Score	Top Affiliating Genes
1	Cardiac conduction ⁶⁵ Show member pathways Classical Kir channels ⁶⁵ Ion homeostasis ⁶⁵ Ion transport by P-type ATPases ⁶⁵ Muscle contraction ⁶⁵ Phase 1 - inactivation of fast Na+ channels ⁶⁵ Phase 3 - rapid repolarisation ⁶⁵ Phase 4 - resting membrane potential ⁶⁵ Physiological factors ⁶⁵ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁵ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁵ Tandem pore domain potassium channels ⁶⁵ TWIK related potassium channel (TREK) ⁶⁵ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁵ TWIK-related spinal cord K+ channel (TRESK) ⁶⁵ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁵	12.56	TRPC1 STIM1 ORAI2 ORAI1 CACNA1C
2	Downstream signaling events of B Cell Receptor (BCR) ⁶⁵ Show member pathways Activation of RAS in B cells ⁶⁵ Signaling by the B Cell Receptor (BCR) ⁶⁵	12.42	TRPC1 STIM1 ORAI2 ORAI1
3	Ion channel transport ⁶⁵ Show member pathways Stimuli-sensing channels ⁶⁵	12.25	TRPC6 TRPC4 TRPC3 TRPC1
4	Axon guidance ³⁶	11.93	TRPC6 TRPC4 TRPC3 TRPC1
5	Platelet homeostasis ⁶⁵ Show member pathways Elevation of cytosolic Ca2+ levels ⁶⁵ Platelet calcium homeostasis ⁶⁵ Platelet sensitization by LDL ⁶⁵ Prostacyclin signalling through prostacyclin receptor ⁶⁵ Reduction of cytosolic Ca++ levels ⁶⁵	11.83	TRPC6 TRPC3 STIM1 ORAI2 ORAI1
6	Calcium signaling pathway ³⁶	11.81	STIM2 STIM1 ORAI3 ORAI2 ORAI1 CACNA1C
7	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers ⁶⁵ Show member pathways B-Cell Receptor Complex ⁶³ CD22 mediated BCR regulation ⁶⁵ CLEC7A (Dectin-1) induces NFAT activation ⁶⁵ FCERI mediated Ca+2 mobilization ⁶⁵	11.65	TRPC1 STIM1 ORAI2 ORAI1
8	Netrin-1 signaling ⁶⁵ Show member pathways DCC mediated attractive signaling ⁶⁵ Netrin mediated repulsion signals ⁶⁵ Role of second messengers in netrin-1 signaling ⁶⁵	11.44	TRPC6 TRPC4 TRPC3 TRPC1
9	GnRH secretion ³⁶	11.39	TRPC4 TRPC1 CACNA1C
10	BDNF-TrkB Signaling ¹	11.03	TRPC6 TRPC3
11	Effects of PIP2 hydrolysis ⁶⁵ Show member pathways Arachidonate production from DAG ⁶⁵	11	TRPC6 TRPC3
12	TRP channels ⁶⁵	10.32	TRPC6 TRPC4 TRPC3 TRPC1

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GO Terms for T Cell and Nk Cell Immunodeficiency

Cellular components related to T Cell and Nk Cell Immunodeficiency according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	integral component of membrane	GO:0016021	9.9	TRPC6 TRPC4 TRPC3 TRPC1 SYPL2 STIM2
2	integral component of plasma membrane	GO:0005887	9.5	TRPC6 TRPC4 TRPC3 TRPC1 STIM1 ORAI1
3	plasma membrane raft	GO:0044853	9.32	STIM1 ORAI1
4	calcium channel complex	GO:0034704	9.26	TRPC4 ORAI1
5	cation channel complex	GO:0034703	8.92	TRPC6 TRPC4 TRPC3 TRPC1

Biological processes related to T Cell and Nk Cell Immunodeficiency according to GeneCards Suite gene sharing:

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transport	GO:0006811	9.92	TRPC6 TRPC4 TRPC3 TRPC1 STIM2 STIM1
2	transmembrane transport	GO:0055085	9.89	TRPC6 TRPC4 TRPC3 TRPC1 CACNA1C
3	cellular calcium ion homeostasis	GO:0006874	9.69	SYPL2 STIM2 STIM1
4	regulation of cytosolic calcium ion concentration	GO:0051480	9.67	TRPC6 TRPC4 TRPC3 TRPC1
5	positive regulation of calcium ion transport	GO:0051928	9.63	TRPC6 STIM2 ORAI1
6	calcium ion import	GO:0070509	9.61	TRPC4 ORAI1 CACNA1C
7	positive regulation of adenylate cyclase activity	GO:0045762	9.58	STIM1 ORAI1 CACNA1C
8	manganese ion transport	GO:0006828	9.56	TRPC6 TRPC4 TRPC3 TRPC1
9	calcium ion transport	GO:0006816	9.56	TRPC6 TRPC4 TRPC3 TRPC1 STIM2 STIM1
10	store-operated calcium entry	GO:0002115	9.55	STIM2 STIM1 ORAI3 ORAI2 ORAI1
11	biomineral tissue development	GO:0031214	9.54	FAM83H AMBN
12	regulation of calcium ion transport	GO:0051924	9.52	STIM1 ORAI1
13	activation of store-operated calcium channel activity	GO:0032237	9.48	STIM2 STIM1
14	calcium ion transmembrane transport	GO:0070588	9.32	TRPC6 TRPC4 TRPC3 TRPC1 STIM2 STIM1

Molecular functions related to T Cell and Nk Cell Immunodeficiency according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ion channel activity	GO:0005216	9.65	TRPC6 TRPC4 TRPC3 TRPC1 CACNA1C
2	inositol 1,4,5 trisphosphate binding	GO:0070679	9.46	TRPC6 TRPC4 TRPC3 TRPC1
3	calcium channel activity	GO:0005262	9.43	TRPC6 TRPC4 TRPC3 TRPC1 ORAI1 CACNA1C
4	calcium channel regulator activity	GO:0005246	9.32	STIM2 STIM1
5	store-operated calcium channel activity	GO:0015279	9.28	TRPC6 TRPC4 TRPC3 TRPC1 STIM2 STIM1

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Sources for T Cell and Nk Cell Immunodeficiency

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

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¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

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⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia