T-CMVA
MCID: ALP042
MIFTS: 48

Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity (T-CMVA) malady

Categories: Genetic diseases, Blood diseases, Rare diseases, Immune diseases

Aliases & Classifications for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion,...

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Sources:
12diseasecard, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 52OMIM, 54Orphanet, 68UMLS, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:

Name: Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 52 12
Alpha/beta T-Cell Lymphopenia, with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection and Autoimmunity 70 27
Combined Immunodeficiency with Expansion of Gamma Delta T Cells 54
Combined Immunodeficiency Due to Partial Rag1 Deficiency 54
Cid with Expansion of Gamma Delta T Cells 54
 
Cid Due to Partial Rag1 Deficiency 54
Autoimmune Diseases 68
Autoimmune State 68
Autoimmunity 39
T-Cmva 70

Characteristics:

Orphanet epidemiological data:

54
combined immunodeficiency with expansion of gamma delta t cells:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood

Classifications:



External Ids:

OMIM52 609889
Orphanet54 ORPHA231154
ICD10 via Orphanet31 D81.8
MedGen37 C1835931

Summaries for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion,...

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UniProtKB/Swiss-Prot:70 Alpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovirus infection and autoimmunity: An immunological disorder characterized by oligoclonal expansion of TCR gamma/delta T-cells, TCR alpha/beta T-cell lymphopenia, severe, disseminated cytomegalovirus infection and autoimmune cytopenia.

MalaCards based summary: Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity, also known as alpha/beta t-cell lymphopenia, with gamma/delta t-cell expansion, severe cytomegalovirus infection and autoimmunity, is related to autoimmune hemolytic anemia and hypothyroidism, congenital, nongoitrous, 1, and has symptoms including Array, Array and Array. An important gene associated with Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity is RAG1 (Recombination Activating 1), and among its related pathways are Taurine and hypotaurine metabolism and Alanine and aspartate metabolism. The drugs prednisone pwdr and prednisone have been mentioned in the context of this disorder. Affiliated tissues include t cells, and related mouse phenotypes are craniofacial and vision/eye.

Description from OMIM:52 609889

Related Diseases for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion,...

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Diseases related to Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 1212)
idRelated DiseaseScoreTop Affiliating Genes
1autoimmune hemolytic anemia33.1CTLA4, IFNG, TG, TPO, TSHR
2hypothyroidism, congenital, nongoitrous, 131.6INS, TG, TPO, TSHR
3hepatitis31.0CTLA4, IFNG, IL10
4goodpasture syndrome30.8CTLA4, HSPD1, IFNG, IL10, IL17A
5collagenous colitis30.6FOXP3, IFNG, IL10, IL17A
6rheumatoid arthritis30.5CTLA4, FOXP3, HSPD1, IFNG, IL10, IL17A
7breast cancer29.8CTLA4, GAD2, INS
8endemic goiter29.5TG, TPO, TSHR
9otosclerosis29.0TG, TPO, TSHR
10membranoproliferative glomerulonephritis28.9FOXP3, IL10, TG
11complex regional pain syndrome28.9IFNG, IL10, IL17A
12burns28.9IFNG, IL10, IL17A
13chorioretinitis28.7CTLA4, IFNG, IL10, PTPN22
14liver inflammatory pseudotumor28.6FOXP3, IFNG, IL10
15balkan nephropathy28.6IFNG, IL10, IL17A
16follicular adenoma28.4HSPD1, IFNG, IL10, IL17A
17autistic disorder28.4CTLA4, IFNG, IL10, IL17A, PTPN22
18autoimmune hepatitis12.3
19autoimmune lymphoproliferative syndrome12.3
20autoimmune polyendocrine syndrome, type ii12.2
21autoimmune polyendocrine syndrome type 112.2
22autoimmune polyendocrine syndrome12.2
23ras-associated autoimmune leukoproliferative disorder12.1
24autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia12.1
25autoimmune polyglandular syndrome type 312.1
26autoimmune lymphoproliferative syndrome, type ii12.1
27autoimmune lymphoproliferative syndrome, type iii12.1
28autoimmune encephalitis12.0
29autoimmune pancreatitis12.0
30vitiligo-associated multiple autoimmune disease susceptibility 112.0
31autoimmune oophoritis12.0
32insulin autoimmune syndrome12.0
33thrombocytopenic purpura, autoimmune12.0
34autoimmune lymphoproliferative syndrome, type v12.0
35drug-induced autoimmune hemolytic anemia12.0
36autoimmune retinopathy12.0
37autoimmune addison disease12.0
38autoimmune myocarditis12.0
39autoimmune progesterone dermatitis12.0
40autoimmune disease 112.0
41autoimmune enteropathy12.0
42autoimmune atrophic gastritis12.0
43autoimmune autonomic ganglionopathy12.0
44autoimmune inner ear disease11.9
45autoimmune disease, multisystem, infantile-onset11.9
46immunodeficiency, common variable, 8, with autoimmunity11.9
47autoimmune lymphoproliferative syndrome, type iib11.9
48autoimmune gastrointestinal dysmotility11.9
49t-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations11.9
50autoimmune neuropathy11.9

Graphical network of the top 20 diseases related to Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:



Diseases related to alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity

Symptoms & Phenotypes for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion,...

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Clinical features from OMIM:

609889

Human phenotypes related to Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:

 54 64 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly64 54 Very frequent (99-80%) HP:0001744
2 autoimmune hemolytic anemia64 54 Frequent (79-30%) HP:0001890
3 autoimmune neutropenia64 54 Frequent (79-30%) HP:0001904
4 immunodeficiency54 Very frequent (99-80%)
5 autoimmunity54 Occasional (29-5%)
6 severe combined immunodeficiency64 54 Very frequent (99-80%) HP:0004430
7 t lymphocytopenia54 Very frequent (99-80%)
8 interstitial pneumonitis64 54 Very frequent (99-80%) HP:0006515
9 b lymphocytopenia64 54 Very frequent (99-80%) HP:0010976
10 sepsis64 54 Very frequent (99-80%) HP:0100806
11 decrease in t cell count64 HP:0005403

MGI Mouse Phenotypes related to Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity according to GeneCards Suite gene sharing:

41 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.2FOXP3, GAD1, GAD2, IFNG, IL10, IL17A
2MP:00053917.2AIRE, FOXP3, IFNG, IL10, INS, RAG1
3MP:00053907.2CTLA4, GAD1, IFNG, IL10, IL17A, INS
4MP:00053897.0AIRE, FOXP3, GAD2, HSPD1, IFNG, IL10
5MP:00053706.9AIRE, CTLA4, FOXP3, IFNG, IL10, INS
6MP:00028736.9AIRE, CTLA4, FOXP3, GAD1, GAD2, IFNG
7MP:00030126.8AIRE, FOXP3, GAD1, GAD2, IFNG, IL10
8MP:00053886.8AIRE, CTLA4, FOXP3, GAD1, GAD2, IFNG
9MP:00053866.3AIRE, FOXP3, GAD1, GAD2, HSPD1, IFNG
10MP:00053816.2AIRE, CTLA4, FOXP3, GAD1, GAD2, IFNG
11MP:00036316.0AIRE, GAD1, GAD2, HSPD1, IFNG, IL10
12MP:00053875.7AIRE, CTLA4, FOXP3, GAD2, IFNG, IL10
13MP:00053975.4AIRE, CTLA4, FOXP3, IFNG, IL10, IL17A
14MP:00053765.4AIRE, CTLA4, FOXP3, GAD1, GAD2, IFNG
15MP:00053795.2AIRE, CTLA4, FOXP3, GAD1, GAD2, IFNG
16MP:00107685.2AIRE, CTLA4, FOXP3, GAD1, GAD2, HSPD1
17MP:00053785.1AIRE, FOXP3, GAD1, GAD2, HSPD1, IFNG

Drugs & Therapeutics for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion,...

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity

Inferred drug relations via UMLS68/NDF-RT46:


Cochrane evidence based reviews: autoimmunity

Genetic Tests for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion,...

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Genetic tests related to Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:

id Genetic test Affiliating Genes
1 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity27

Anatomical Context for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion,...

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MalaCards organs/tissues related to Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:

36
T cells

Publications for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion,...

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Variations for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion,...

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UniProtKB/Swiss-Prot genetic disease variations for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:

70
id Symbol AA change Variation ID SNP ID
1RAG1p.Arg841TrpVAR_025985rs104894287
2RAG1p.Gln981ProVAR_025988rs104894288

Clinvar genetic disease variations for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:

5
id Gene Variation Type Significance SNP ID Assembly Location
1RAG1RAG1, 2-BP DEL, 368AAdeletionPathogenic
2RAG1RAG1, 1-BP DEL, 631TdeletionPathogenic
3RAG1NM_ 000448.2(RAG1): c.2521C> T (p.Arg841Trp)SNVPathogenicrs104894287GRCh37Chr 11, 36597375: 36597375
4RAG1NM_ 000448.2(RAG1): c.2942A> C (p.Gln981Pro)SNVPathogenicrs104894288GRCh37Chr 11, 36597796: 36597796

Expression for genes affiliated with Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion,...

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Search GEO for disease gene expression data for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity.

Pathways for genes affiliated with Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion,...

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Pathways related to Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity according to GeneCards Suite gene sharing:

(show all 18)
idSuper pathwaysScoreTop Affiliating Genes
19.8GAD1, GAD2
2
Show member pathways
9.8GAD1, GAD2
39.8GAD1, GAD2
4
Show member pathways
9.8GAD1, GAD2
59.5TG, TPO, TSHR
6
Show member pathways
9.2CTLA4, FOXP3, IFNG
79.2CTLA4, IFNG, IL17A, TNFSF13B
8
Show member pathways
9.0INS, TG, TPO, TSHR
9
Show member pathways
8.9IFNG, IL10, IL17A
108.9IFNG, IL10, IL17A
11
Show member pathways
8.9IFNG, IL10, IL17A
12
Show member pathways
8.7CTLA4, IFNG, IL10, IL17A
13
Show member pathways
8.6FOXP3, IFNG, IL10
148.6FOXP3, IFNG, IL10
158.4CTLA4, FOXP3, IL10, TNFSF13B
16
Show member pathways
8.3FOXP3, IFNG, IL10, IL17A
177.2CTLA4, FOXP3, IFNG, IL10, IL17A, PTPN22
18
Show member pathways
5.1CTLA4, FOXP3, GAD1, GAD2, HSPD1, IFNG

GO Terms for genes affiliated with Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion,...

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Cellular components related to Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1clathrin-sculpted gamma-aminobutyric acid transport vesicle membraneGO:006120210.6GAD1, GAD2
2inhibitory synapseGO:00600779.8GAD1, GAD2
3extracellular spaceGO:00056157.6HSPD1, IFNG, IL10, IL17A, INS, TNFSF13B

Biological processes related to Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity according to GeneCards Suite gene sharing:

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1hormone biosynthetic processGO:004244610.6TG, TPO
2carboxylic acid metabolic processGO:001975210.6GAD1, GAD2
3glutamate decarboxylation to succinateGO:000654010.6GAD1, GAD2
4neurotransmitter biosynthetic processGO:004213610.5GAD1, GAD2
5positive regulation of interleukin-23 productionGO:003274710.4IFNG, IL17A
6positive regulation of osteoclast differentiationGO:004567210.4IFNG, IL17A
7positive regulation of interleukin-6 secretionGO:200077810.3HSPD1, IL17A
8negative regulation of immune responseGO:005077710.3CTLA4, FOXP3
9B cell homeostasisGO:000178210.2FOXP3, TNFSF13B
10negative regulation of B cell proliferationGO:003088910.1CTLA4, IL10
11negative regulation of interleukin-17 productionGO:003270010.1FOXP3, IFNG
12defense response to protozoanGO:00428329.9IFNG, IL10
13negative regulation of growth of symbiont in hostGO:00441309.9IFNG, IL10
14positive regulation of MHC class II biosynthetic processGO:00453489.8IFNG, IL10
15positive regulation of macrophage activationGO:00430329.8HSPD1, IL10
16B cell differentiationGO:00301839.8IL10, RAG1, TSHR
17negative regulation of T cell proliferationGO:00421309.5CTLA4, FOXP3, IL10
18negative regulation of tumor necrosis factor productionGO:00327209.4FOXP3, IL10, PTPN22
19positive regulation of gene expressionGO:00106289.2FOXP3, IFNG, INS, PTPN22
20cell-cell signalingGO:00072679.2IL10, IL17A, INS, TSHR
21immune responseGO:00069558.5AIRE, CTLA4, IFNG, IL10, IL17A, RAG1
22response to drugGO:00424938.0GAD1, GAD2, HSPD1, IFNG, IL10

Molecular functions related to Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glutamate bindingGO:00165959.9GAD1, GAD2
2glutamate decarboxylase activityGO:00043519.8GAD1, GAD2
3cytokine activityGO:00051258.8IFNG, IL10, IL17A, TNFSF13B

Sources for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion,...

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet