T-CMVA
MCID: ALP042
MIFTS: 61

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

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

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

MalaCards integrated aliases 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 58 30 13 6 41
Alpha/beta T-Cell Lymphopenia, with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection and Autoimmunity 76
Combined Immunodeficiency with Expansion of Gamma Delta T Cells 60
Combined Immunodeficiency Due to Partial Rag1 Deficiency 60
Cid with Expansion of Gamma Delta T Cells 60
Cid Due to Partial Rag1 Deficiency 60
Autoimmune Diseases 74
Autoimmune State 74
Autoimmunity 45
T-Cmva 76

Characteristics:

Orphanet epidemiological data:

60
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: 60  
Rare immunological diseases


External Ids:

OMIM 58 609889
ICD10 via Orphanet 35 D81.8
UMLS via Orphanet 75 C1835931
Orphanet 60 ORPHA231154
MedGen 43 C1835931

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

UniProtKB/Swiss-Prot : 76 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 polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia and vitiligo-associated multiple autoimmune disease susceptibility 1. 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, thyroid and b cells, and related phenotypes are splenomegaly and immunodeficiency

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 1776)
# Related Disease Score Top Affiliating Genes
1 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 34.2 AIRE GAD1 GAD2
2 vitiligo-associated multiple autoimmune disease susceptibility 1 34.0 AIRE CTLA4 PTPN22
3 autoimmune polyendocrine syndrome, type ii 34.0 GAD1 GAD2 INS
4 autoimmune addison disease 34.0 AIRE CTLA4
5 vitiligo-associated multiple autoimmune disease susceptibility 6 33.8 AIRE PTPN22
6 autoimmune enteropathy 33.6 FOXP3 IL17A
7 autoimmune polyendocrine syndrome 33.3 AIRE FOXP3 GAD1 GAD2 IL17A
8 hashimoto encephalopathy 33.2 TPO TSHR
9 autoimmune uveitis 33.1 IFNG IL10 IL17A
10 autoimmune disease of gastrointestinal tract 33.1 CTLA4 FOXP3 IFNG
11 hypoadrenocorticism, familial 33.0 AIRE CTLA4 PTPN22 TPO
12 autoimmune pancreatitis 33.0 CTLA4 FOXP3 IL10 TNFSF13B
13 autoimmune optic neuritis 32.9 FOXP3 IL10 IL17A
14 autoimmune disease of eyes, ear, nose and throat 32.8 FOXP3 IL10 IL17A
15 autoimmune atherosclerosis 32.7 FOXP3 HSPD1 IL10
16 celiac disease 1 32.4 CTLA4 PTPN22 TG TPO
17 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 32.4 AIRE FOXP3 IFNG IL10 RAG1
18 hashimoto thyroiditis 32.4 AIRE CTLA4 IFNG PTPN22 TG TPO
19 autoimmune disease of central nervous system 32.4 FOXP3 IFNG IL10 IL17A
20 graves disease 1 32.3 INS TG TPO TSHR
21 autoimmune disease of musculoskeletal system 32.3 FOXP3 IL10 IL17A PTPN22 TNFSF13B
22 limbic encephalitis 32.2 GAD1 GAD2 TPO
23 stiff-person syndrome 32.2 GAD1 GAD2 INS
24 pernicious anemia 32.2 AIRE TG TPO
25 graves' disease 32.1 CTLA4 IFNG PTPN22 TG TPO TSHR
26 diabetes mellitus, ketosis-prone 32.0 GAD1 GAD2 INS
27 myasthenia gravis 32.0 AIRE CTLA4 IFNG IL10 TNFSF13B
28 alopecia areata 31.9 AIRE CTLA4 IFNG PTPN22
29 vogt-koyanagi-harada disease 31.8 IL10 IL17A PTPN22
30 myxedema 31.6 CTLA4 TG TPO TSHR
31 arthritis 31.5 IFNG IL10 IL17A PTPN22
32 mixed connective tissue disease 31.4 HSPD1 IFNG IL10
33 hyperthyroidism 31.4 CTLA4 INS TG TPO TSHR
34 autoimmune disease of endocrine system 31.4 AIRE CTLA4 FOXP3 IFNG INS PTPN22
35 thyroiditis 31.3 CTLA4 PTPN22 TG TPO TSHR
36 connective tissue disease 31.1 HSPD1 IFNG IL10 TNFSF13B
37 multiple sclerosis 31.0 CTLA4 FOXP3 IFNG IL10 IL17A TNFSF13B
38 hypothyroidism 31.0 AIRE CTLA4 TG TPO TSHR
39 behcet syndrome 30.8 CTLA4 HSPD1 IFNG IL10 IL17A
40 reactive arthritis 30.8 HSPD1 IFNG IL10 IL17A
41 rheumatoid arthritis 30.7 CTLA4 FOXP3 IFNG IL10 IL17A PTPN22
42 systemic lupus erythematosus 30.6 CTLA4 FOXP3 IFNG IL10 IL17A PTPN22
43 uveitis 30.6 CTLA4 IFNG IL10 IL17A
44 goiter 30.6 TG TPO TSHR
45 autoimmune disease 30.5 AIRE CTLA4 FOXP3 GAD2 HSPD1 IFNG
46 hematopoietic stem cell transplantation 30.3 CTLA4 IFNG IL10
47 lymphopenia 30.3 FOXP3 IFNG RAG1
48 candidiasis 30.2 AIRE IFNG IL10 IL17A
49 demyelinating disease 30.1 IFNG IL10 IL17A
50 ulcerative colitis 30.0 IFNG IL10 IL17A

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,...

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

60 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 60 Very frequent (99-80%)
2 immunodeficiency 60 Very frequent (99-80%)
3 autoimmunity 60 Occasional (29-5%)
4 sepsis 60 Very frequent (99-80%)
5 decrease in t cell count 60 Very frequent (99-80%)
6 b lymphocytopenia 60 Very frequent (99-80%)
7 autoimmune hemolytic anemia 60 Frequent (79-30%)
8 neutropenia in presence of anti-neutropil antibodies 60 Frequent (79-30%)
9 severe combined immunodeficiency 60 Very frequent (99-80%)
10 interstitial pneumonitis 60 Very frequent (99-80%)

Clinical features from OMIM:

609889

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

47 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.4 AIRE CTLA4 FOXP3 GAD1 GAD2 IFNG
2 growth/size/body region MP:0005378 10.39 AIRE FOXP3 GAD1 GAD2 HSPD1 IFNG
3 homeostasis/metabolism MP:0005376 10.37 AIRE CTLA4 FOXP3 GAD1 GAD2 IFNG
4 immune system MP:0005387 10.36 AIRE CTLA4 FOXP3 GAD2 IFNG IL10
5 digestive/alimentary MP:0005381 10.35 AIRE CTLA4 FOXP3 GAD1 GAD2 IFNG
6 hematopoietic system MP:0005397 10.35 AIRE CTLA4 FOXP3 IFNG IL10 IL17A
7 mortality/aging MP:0010768 10.3 AIRE CTLA4 FOXP3 GAD1 GAD2 HSPD1
8 behavior/neurological MP:0005386 10.28 AIRE FOXP3 GAD1 GAD2 HSPD1 IFNG
9 nervous system MP:0003631 10.13 AIRE GAD1 GAD2 HSPD1 IFNG IL10
10 craniofacial MP:0005382 10.12 FOXP3 GAD1 GAD2 IFNG IL10 IL17A
11 liver/biliary system MP:0005370 10.08 AIRE CTLA4 FOXP3 IFNG IL10 INS
12 normal MP:0002873 10.02 AIRE CTLA4 FOXP3 GAD1 GAD2 IFNG
13 no phenotypic analysis MP:0003012 10.01 AIRE FOXP3 GAD1 GAD2 IFNG IL10
14 limbs/digits/tail MP:0005371 9.97 FOXP3 GAD1 IL10 TG TPO TSHR
15 reproductive system MP:0005389 9.86 AIRE FOXP3 GAD2 HSPD1 IFNG IL10
16 respiratory system MP:0005388 9.85 AIRE CTLA4 FOXP3 GAD1 GAD2 IFNG
17 renal/urinary system MP:0005367 9.8 FOXP3 IFNG IL17A INS PTPN22 RAG1
18 skeleton MP:0005390 9.65 CTLA4 GAD1 IFNG IL10 IL17A INS
19 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 74 / NDF-RT 52 :


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:

# Genetic test Affiliating Genes
1 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 30 RAG1

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:

42
T Cells, Thyroid, B Cells, Bone, Skin, Heart, Lung

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

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

(show top 50) (show all 3216)
# Title Authors Year
1
B Cell Dysfunction Associated With Aging and Autoimmune Diseases. ( 30873171 )
2019
2
Experience of biological therapy units in rheumatoid arthritis and other autoimmune diseases. ( 30709786 )
2019
3
Familial association of attention-deficit hyperactivity disorder with autoimmune diseases in the population of Sweden. ( 30407269 )
2019
4
Proband and Familial Autoimmune Diseases Are Associated With Proband Diagnosis of Autism Spectrum Disorders. ( 30975444 )
2019
5
Editorial: Autism Spectrum Disorder and Autoimmune Diseases: A Pathway in Common? ( 30902666 )
2019
6
Extrahepatic autoimmune diseases in patients with autoimmune hepatitis and their relatives: A Danish nationwide cohort study. ( 30218621 )
2019
7
The association between infection incidence and autoimmune diseases in breast cancer patients after anti-cancer treatment. ( 30854088 )
2019
8
Enhancement of cancer invasion and growth via the C5a-C5a receptor system: Implications for cancer promotion by autoimmune diseases and association with cervical cancer invasion. ( 30655847 )
2019
9
Low percentages of regulatory T cells in common variable immunodeficiency (CVID) patients with autoimmune diseases and its association with increased numbers of CD4+CD45RO+ T and CD21low B cells. ( 31103252 )
2019
10
Population based study: atopy and autoimmune diseases are associated with functional dyspepsia and irritable bowel syndrome, independent of psychological distress. ( 30687959 )
2019
11
Evidence for an association between endometriosis, fibromyalgia, and autoimmune diseases. ( 30682223 )
2019
12
Autoimmune Diseases and Gastric Cancer Risk: A Systematic Review and Meta-Analysis. ( 31048663 )
2019
13
The association of other autoimmune diseases in patients with Graves' disease (with or without ophthalmopathy): Review of the literature and report of a large series. ( 30639646 )
2019
14
Systemic autoimmune diseases complicated with hydrocephalus: pathogenesis and management. ( 29130124 )
2019
15
Therapeutic Plasma Exchange as Management of Complicated Systemic Lupus Erythematosus and Other Autoimmune Diseases. ( 30984421 )
2019
16
Autoimmune diseases in myelodysplastic syndrome favors patients survival: A case control study and literature review. ( 30408583 )
2019
17
Systemic autoimmune diseases are associated with an increased risk of obsessive-compulsive disorder: a nationwide population-based cohort study. ( 30406283 )
2019
18
Pancreatic cancer and autoimmune diseases: An association sustained by computational and epidemiological case-control approaches. ( 30229903 )
2019
19
Pleuroparenchymal fibroelastosis as a histological background of autoimmune diseases. ( 30327882 )
2019
20
Pneumocystis jirovecii pneumonia prophylaxis in immunocompromised patients with systemic autoimmune diseases. ( 30853123 )
2019
21
Prognostic factors of Pneumocystis pneumonia in patients with systemic autoimmune diseases. ( 30908547 )
2019
22
Androgen deprivation therapy for prostate cancer and the risk of autoimmune diseases. ( 30692587 )
2019
23
Familial Aggregation of Psoriasis and Co-Aggregation of Autoimmune Diseases in Affected Families. ( 30669308 )
2019
24
An isolated Xp deletion is linked to autoimmune diseases in Turner syndrome. ( 31075085 )
2019
25
UVEOGENE: An SNP database for investigations on genetic factors associated with uveitis and their relationship with other systemic autoimmune diseases. ( 30614601 )
2019
26
Prevalence of overlap of antineutrophil cytoplasmic antibody associated vasculitis with systemic autoimmune diseases: an unrecognized example of poliautoimmunity. ( 30006919 )
2019
27
Aberrant Expressions of Co-stimulatory and Co-inhibitory Molecules in Autoimmune Diseases. ( 30842773 )
2019
28
Plantago squarrosa Murray extracts inhibit the growth of some bacterial triggers of autoimmune diseases: GC-MS analysis of an inhibitory extract. ( 30446926 )
2019
29
Late-onset biopsy-proven lupus nephritis without other associated autoimmune diseases: severity and long-term outcome. ( 30442061 )
2019
30
Autoimmune Diseases in Systemic Sclerosis Patients and Their Relatives: Data from a Single Center. ( 30685902 )
2019
31
Clinical Implications of Excessive Neutrophil Extracellular Trap Formation in Renal Autoimmune Diseases. ( 30775617 )
2019
32
Emerging role of air pollution in autoimmune diseases. ( 30959217 )
2019
33
Helminth-Related Tuftsin-Phosphorylcholine Compound and its Interplay with Autoimmune Diseases. ( 30905098 )
2019
34
Diagnostic Utility of Separate Anti-Ro60 and Anti-Ro52/TRIM21 Antibody Detection in Autoimmune Diseases. ( 30915082 )
2019
35
Accuracy of neutrophil CD64 expression in diagnosing infection in patients with autoimmune diseases: a meta-analysis. ( 30915651 )
2019
36
Tolerability and safety of long-term rituximab treatment in systemic inflammatory and autoimmune diseases. ( 30923955 )
2019
37
Altered X-chromosome inactivation in T cells may promote sex-biased autoimmune diseases. ( 30944248 )
2019
38
Autoimmune Diseases and Psychotic Disorders. ( 30949074 )
2019
39
Lymphatic Function in Autoimmune Diseases. ( 30949174 )
2019
40
Emerging views of mitophagy in immunity and autoimmune diseases. ( 30951392 )
2019
41
Immunotherapies for autoimmune diseases. ( 30952989 )
2019
42
Endothelial function features and properties of large vessel behavior in systemic autoimmune diseases: a cross-talk among cardiovascular disease risk factors. ( 30959211 )
2019
43
Poor vaccine-related immunity against HBV in children with autoimmune diseases: Early or late sign of immunological disorder? ( 30992122 )
2019
44
Roles of CircRNAs in Autoimmune Diseases. ( 31001261 )
2019
45
New therapeutic strategies based on IL-2 to modulate Treg cells for autoimmune diseases. ( 31005777 )
2019
46
The Immunomodulatory Effect of Alpha-Lipoic Acid in Autoimmune Diseases. ( 31016198 )
2019
47
Multifaceted Roles of Neutrophils in Autoimmune Diseases. ( 31016207 )
2019
48
Differential Effects of Mesenchymal Stem Cells on T Cells Isolated from Childhood Allergies and Autoimmune Diseases. ( 31021417 )
2019
49
Genome-Wide DNA Methylation Profiles Reveal Common Epigenetic Patterns of Interferon-Related Genes in Multiple Autoimmune Diseases. ( 31024609 )
2019
50
Pharmacodynamics of rituximab on B lymphocytes in paediatric patients with autoimmune diseases. ( 31026092 )
2019

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:

76
# 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 (show all 22)
# 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.2521C> T (p.Arg841Trp) single nucleotide variant Pathogenic rs104894287 GRCh38 Chromosome 11, 36575825: 36575825
5 RAG1 NM_000448.2(RAG1): c.2942A> C (p.Gln981Pro) single nucleotide variant Pathogenic rs104894288 GRCh37 Chromosome 11, 36597796: 36597796
6 RAG1 NM_000448.2(RAG1): c.2942A> C (p.Gln981Pro) single nucleotide variant Pathogenic rs104894288 GRCh38 Chromosome 11, 36576246: 36576246
7 RAG1 NM_000448.2(RAG1): c.1303A> G (p.Met435Val) single nucleotide variant Pathogenic/Likely pathogenic rs141524540 GRCh37 Chromosome 11, 36596157: 36596157
8 RAG1 NM_000448.2(RAG1): c.1303A> G (p.Met435Val) single nucleotide variant Pathogenic/Likely pathogenic rs141524540 GRCh38 Chromosome 11, 36574607: 36574607
9 RAG1 NM_000448.2(RAG1): c.1871G> A (p.Arg624His) single nucleotide variant not provided rs199474680 GRCh37 Chromosome 11, 36596725: 36596725
10 RAG1 NM_000448.2(RAG1): c.1871G> A (p.Arg624His) single nucleotide variant not provided rs199474680 GRCh38 Chromosome 11, 36575175: 36575175
11 CEL NM_001807.4(CEL): c.1975G> C (p.Ala659Pro) single nucleotide variant Uncertain significance rs587780309 GRCh37 Chromosome 9, 135946855: 135946855
12 CEL NM_001807.4(CEL): c.1975G> C (p.Ala659Pro) single nucleotide variant Uncertain significance rs587780309 GRCh38 Chromosome 9, 133071468: 133071468
13 RAG1 NM_000448.2(RAG1): c.1064T> C (p.Met355Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 36595918: 36595918
14 RAG1 NM_000448.2(RAG1): c.1064T> C (p.Met355Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 36574368: 36574368
15 RAG1 NM_000448.2(RAG1): c.2348C> G (p.Ser783Ter) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 11, 36597202: 36597202
16 RAG1 NM_000448.2(RAG1): c.2348C> G (p.Ser783Ter) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 11, 36575652: 36575652
17 RAG1 NM_000448.2(RAG1): c.1213A> G (p.Arg405Gly) single nucleotide variant no interpretation for the single variant GRCh38 Chromosome 11, 36574517: 36574517
18 RAG1 NM_000448.2(RAG1): c.1213A> G (p.Arg405Gly) single nucleotide variant no interpretation for the single variant GRCh37 Chromosome 11, 36596067: 36596067
19 RAG1 NM_000448.2(RAG1): c.424C> T (p.Arg142Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 36595278: 36595278
20 RAG1 NM_000448.2(RAG1): c.424C> T (p.Arg142Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 36573728: 36573728
21 RAG1 NM_000448.2(RAG1): c.549G> A (p.Met183Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 36595403: 36595403
22 RAG1 NM_000448.2(RAG1): c.549G> A (p.Met183Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 36573853: 36573853

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)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.35 FOXP3 IFNG IL10 IL17A
2
Show member pathways
12.27 CTLA4 IFNG IL10 IL17A
3
Show member pathways
12.18 CTLA4 FOXP3 GAD1 GAD2 HSPD1 IFNG
4 12.07 CTLA4 FOXP3 IFNG IL10 IL17A PTPN22
5
Show member pathways
11.88 IL10 INS RAG1
6
Show member pathways
11.86 IFNG IL10 IL17A TNFSF13B
7
Show member pathways
11.85 IFNG IL10 IL17A
8 11.54 IFNG IL10 IL17A
9 11.52 CTLA4 IFNG IL17A TNFSF13B
10
Show member pathways
11.46 CTLA4 FOXP3 IFNG
11 11.4 IFNG IL10 IL17A
12 11.16 FOXP3 IFNG IL10
13
Show member pathways
10.92 GAD1 GAD2
14
Show member pathways
10.79 GAD1 GAD2
15 10.75 GAD1 GAD2
16
Show member pathways
10.61 GAD1 GAD2
17 10.52 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:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.7 HSPD1 IFNG IL10 IL17A INS TNFSF13B
2 inhibitory synapse GO:0060077 8.96 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 19)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.71 GAD1 GAD2 IL10
2 regulation of signaling receptor activity GO:0010469 9.63 IFNG IL10 IL17A INS TG TNFSF13B
3 B cell differentiation GO:0030183 9.61 IL10 RAG1 TSHR
4 B cell homeostasis GO:0001782 9.58 FOXP3 TNFSF13B
5 positive regulation of osteoclast differentiation GO:0045672 9.58 IFNG IL17A
6 carboxylic acid metabolic process GO:0019752 9.57 GAD1 GAD2
7 positive regulation of macrophage activation GO:0043032 9.56 HSPD1 IL10
8 negative regulation of B cell proliferation GO:0030889 9.55 CTLA4 IL10
9 negative regulation of tumor necrosis factor production GO:0032720 9.54 FOXP3 IL10 PTPN22
10 negative regulation of immune response GO:0050777 9.52 CTLA4 FOXP3
11 neurotransmitter biosynthetic process GO:0042136 9.51 GAD1 GAD2
12 negative regulation of T cell proliferation GO:0042130 9.5 CTLA4 FOXP3 IL10
13 hormone biosynthetic process GO:0042446 9.48 TG TPO
14 negative regulation of interleukin-17 production GO:0032700 9.46 FOXP3 IFNG
15 positive regulation of interleukin-23 production GO:0032747 9.4 IFNG IL17A
16 glutamate decarboxylation to succinate GO:0006540 9.26 GAD1 GAD2
17 negative regulation of reactive oxygen species biosynthetic process GO:1903427 9.19 INS
18 immune response GO:0006955 9.17 AIRE CTLA4 IFNG IL10 IL17A RAG1
19 regulation of regulatory T cell differentiation GO:0045589 9.13 CTLA4 FOXP3 IFNG

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:

# 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
4 protein binding GO:0005515 10.1 AIRE CTLA4 FOXP3 GAD1 GAD2 HSPD1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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