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,...

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 54 13
Alpha/beta T-Cell Lymphopenia, with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection and Autoimmunity 66 29
Combined Immunodeficiency with Expansion of Gamma Delta T Cells 56
Combined Immunodeficiency Due to Partial Rag1 Deficiency 56
Cid with Expansion of Gamma Delta T Cells 56
Cid Due to Partial Rag1 Deficiency 56
Autoimmune Diseases 69
Autoimmune State 69
Autoimmunity 42
T-Cmva 66

Characteristics:

Orphanet epidemiological data:

56
combined immunodeficiency due to partial rag1 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:

Orphanet: 56  
Rare immunological diseases


External Ids:

OMIM 54 609889
Orphanet 56 ORPHA231154
ICD10 via Orphanet 34 D81.8
MedGen 40 C1835931

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

UniProtKB/Swiss-Prot : 66 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 splenomegaly, sepsis and b lymphocytopenia. 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/superpathways are Th17 cell differentiation and T cell receptor signaling pathway. Affiliated tissues include t cells, and related phenotypes are endocrine/exocrine gland and growth/size/body region

Description from OMIM: 609889

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

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)
id Related Disease Score Top Affiliating Genes
1 autoimmune hemolytic anemia 33.1 CTLA4 IFNG TG TPO TSHR
2 hypothyroidism, congenital, nongoitrous, 1 31.6 INS TG TPO TSHR
3 hepatitis 31.0 CTLA4 IFNG IL10
4 goodpasture syndrome 30.8 CTLA4 HSPD1 IFNG IL10 IL17A
5 collagenous colitis 30.6 FOXP3 IFNG IL10 IL17A
6 rheumatoid arthritis 30.5 CTLA4 FOXP3 HSPD1 IFNG IL10 IL17A
7 breast cancer 29.8 CTLA4 GAD2 INS
8 endemic goiter 29.5 TG TPO TSHR
9 otosclerosis 29.0 TG TPO TSHR
10 membranoproliferative glomerulonephritis 28.9 FOXP3 IL10 TG
11 complex regional pain syndrome 28.9 IFNG IL10 IL17A
12 burns 28.9 IFNG IL10 IL17A
13 chorioretinitis 28.7 CTLA4 IFNG IL10 PTPN22
14 liver inflammatory pseudotumor 28.6 FOXP3 IFNG IL10
15 balkan nephropathy 28.6 IFNG IL10 IL17A
16 follicular adenoma 28.4 HSPD1 IFNG IL10 IL17A
17 autistic disorder 28.4 CTLA4 IFNG IL10 IL17A PTPN22
18 autoimmune hepatitis 12.3
19 autoimmune lymphoproliferative syndrome 12.3
20 autoimmune polyendocrine syndrome, type ii 12.2
21 autoimmune polyendocrine syndrome type 1 12.2
22 autoimmune polyendocrine syndrome 12.2
23 ras-associated autoimmune leukoproliferative disorder 12.1
24 autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia 12.1
25 autoimmune polyglandular syndrome type 3 12.1
26 autoimmune lymphoproliferative syndrome, type ii 12.1
27 autoimmune lymphoproliferative syndrome, type iii 12.1
28 autoimmune encephalitis 12.0
29 autoimmune pancreatitis 12.0
30 vitiligo-associated multiple autoimmune disease susceptibility 1 12.0
31 autoimmune oophoritis 12.0
32 insulin autoimmune syndrome 12.0
33 thrombocytopenic purpura, autoimmune 12.0
34 autoimmune lymphoproliferative syndrome, type v 12.0
35 drug-induced autoimmune hemolytic anemia 12.0
36 autoimmune retinopathy 12.0
37 autoimmune addison disease 12.0
38 autoimmune myocarditis 12.0
39 autoimmune progesterone dermatitis 12.0
40 autoimmune disease 1 12.0
41 autoimmune enteropathy 12.0
42 autoimmune atrophic gastritis 12.0
43 autoimmune autonomic ganglionopathy 12.0
44 autoimmune inner ear disease 11.9
45 autoimmune disease, multisystem, infantile-onset 11.9
46 immunodeficiency, common variable, 8, with autoimmunity 11.9
47 autoimmune lymphoproliferative syndrome, type iib 11.9
48 autoimmune gastrointestinal dysmotility 11.9
49 t-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations 11.9
50 autoimmune neuropathy 11.9

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,...

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:

56 32 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 56 32 Very frequent (99-80%) HP:0001744
2 sepsis 56 32 Very frequent (99-80%) HP:0100806
3 b lymphocytopenia 56 32 Very frequent (99-80%) HP:0010976
4 autoimmune hemolytic anemia 56 32 Frequent (79-30%) HP:0001890
5 autoimmune neutropenia 56 32 Frequent (79-30%) HP:0001904
6 severe combined immunodeficiency 56 32 Very frequent (99-80%) HP:0004430
7 interstitial pneumonitis 56 32 Very frequent (99-80%) HP:0006515
8 immunodeficiency 56 Very frequent (99-80%)
9 autoimmunity 56 Occasional (29-5%)
10 t lymphocytopenia 56 Very frequent (99-80%)
11 decrease in t cell count 32 HP:0005403

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

44 (show all 17)
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.38 IL17A INS PTPN22 RAG1 TG TPO
2 growth/size/body region MP:0005378 10.37 RAG1 TG TPO TSHR AIRE FOXP3
3 homeostasis/metabolism MP:0005376 10.34 TG TPO TSHR AIRE CTLA4 FOXP3
4 hematopoietic system MP:0005397 10.32 AIRE CTLA4 FOXP3 IFNG IL10 IL17A
5 digestive/alimentary MP:0005381 10.29 AIRE CTLA4 FOXP3 GAD1 GAD2 IFNG
6 immune system MP:0005387 10.29 AIRE CTLA4 FOXP3 GAD2 IFNG IL10
7 mortality/aging MP:0010768 10.28 AIRE CTLA4 FOXP3 GAD1 GAD2 HSPD1
8 behavior/neurological MP:0005386 10.27 AIRE FOXP3 GAD1 GAD2 HSPD1 IFNG
9 nervous system MP:0003631 10.1 IL10 INS RAG1 TG TSHR AIRE
10 liver/biliary system MP:0005370 10.06 AIRE CTLA4 FOXP3 IFNG IL10 INS
11 craniofacial MP:0005382 10.03 FOXP3 GAD1 GAD2 IFNG IL10 IL17A
12 no phenotypic analysis MP:0003012 9.97 AIRE FOXP3 GAD1 GAD2 IFNG IL10
13 normal MP:0002873 9.97 AIRE CTLA4 FOXP3 GAD1 GAD2 IFNG
14 reproductive system MP:0005389 9.86 HSPD1 IFNG IL10 INS TSHR AIRE
15 respiratory system MP:0005388 9.85 IL10 IL17A PTPN22 RAG1 GAD2 IFNG
16 skeleton MP:0005390 9.61 IL10 IL17A INS RAG1 TPO TSHR
17 vision/eye MP:0005391 9.23 AIRE FOXP3 IFNG IL10 INS RAG1

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

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

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: autoimmunity

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

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 Autoimmunity 29

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

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

39
T Cells

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

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

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

66
id Symbol AA change Variation ID SNP ID
1 RAG1 p.Arg841Trp VAR_025985 rs104894287
2 RAG1 p.Gln981Pro VAR_025988 rs104894288

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RAG1 RAG1, 2-BP DEL, 368AA deletion Pathogenic
2 RAG1 RAG1, 1-BP DEL, 631T deletion Pathogenic
3 RAG1 NM_000448.2(RAG1): c.2521C> T (p.Arg841Trp) single nucleotide variant Pathogenic rs104894287 GRCh37 Chromosome 11, 36597375: 36597375
4 RAG1 NM_000448.2(RAG1): c.2942A> C (p.Gln981Pro) single nucleotide variant Pathogenic rs104894288 GRCh37 Chromosome 11, 36597796: 36597796

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

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

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)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.41 FOXP3 IFNG IL10 IL17A
2
Show member pathways
12.21 CTLA4 IFNG IL10 IL17A
3
Show member pathways
12.18 CTLA4 FOXP3 GAD1 GAD2 HSPD1 IFNG
4
Show member pathways
12.16 INS TG TPO TSHR
5 12.05 CTLA4 FOXP3 IFNG IL10 IL17A PTPN22
6
Show member pathways
11.96 IFNG IL10 IL17A
7
Show member pathways
11.74 IFNG IL10 IL17A
8 11.58 CTLA4 IFNG IL17A TNFSF13B
9 11.56 IFNG IL10 IL17A
10
Show member pathways
11.49 CTLA4 FOXP3 IFNG
11 11.4 CTLA4 FOXP3 IL10 TNFSF13B
12 11.25 FOXP3 IFNG IL10
13
Show member pathways
11.15 FOXP3 IFNG IL10
14
Show member pathways
10.81 GAD1 GAD2
15 10.78 GAD1 GAD2
16
Show member pathways
10.64 GAD1 GAD2
17 10.55 GAD1 GAD2
18 10.11 TG TPO TSHR

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

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:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.5 HSPD1 IFNG IL10 IL17A INS TNFSF13B
2 inhibitory synapse GO:0060077 9.16 GAD1 GAD2
3 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane GO:0061202 8.62 GAD1 GAD2

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)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.88 FOXP3 IFNG INS PTPN22
2 cell-cell signaling GO:0007267 9.84 IL10 IL17A INS TSHR
3 positive regulation of osteoclast differentiation GO:0045672 9.61 IFNG IL17A
4 B cell homeostasis GO:0001782 9.6 FOXP3 TNFSF13B
5 positive regulation of interleukin-6 secretion GO:2000778 9.59 HSPD1 IL17A
6 defense response to protozoan GO:0042832 9.58 IFNG IL10
7 B cell differentiation GO:0030183 9.58 IL10 RAG1 TSHR
8 carboxylic acid metabolic process GO:0019752 9.57 GAD1 GAD2
9 negative regulation of growth of symbiont in host GO:0044130 9.56 IFNG IL10
10 negative regulation of B cell proliferation GO:0030889 9.55 CTLA4 IL10
11 response to drug GO:0042493 9.55 GAD1 GAD2 HSPD1 IFNG IL10
12 neurotransmitter biosynthetic process GO:0042136 9.52 GAD1 GAD2
13 negative regulation of immune response GO:0050777 9.51 CTLA4 FOXP3
14 negative regulation of tumor necrosis factor production GO:0032720 9.5 FOXP3 IL10 PTPN22
15 positive regulation of macrophage activation GO:0043032 9.49 HSPD1 IL10
16 hormone biosynthetic process GO:0042446 9.48 TG TPO
17 negative regulation of interleukin-17 production GO:0032700 9.46 FOXP3 IFNG
18 positive regulation of MHC class II biosynthetic process GO:0045348 9.43 IFNG IL10
19 negative regulation of T cell proliferation GO:0042130 9.43 CTLA4 FOXP3 IL10
20 positive regulation of interleukin-23 production GO:0032747 9.37 IFNG IL17A
21 immune response GO:0006955 9.17 AIRE CTLA4 IFNG IL10 IL17A RAG1
22 glutamate decarboxylation to succinate GO:0006540 8.96 GAD1 GAD2

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:

id Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.26 IFNG IL10 IL17A TNFSF13B
2 glutamate binding GO:0016595 9.16 GAD1 GAD2
3 glutamate decarboxylase activity GO:0004351 8.62 GAD1 GAD2

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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