T-CMVA
MCID: ALP042
MIFTS: 68

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 57 29 13 6 40
Alpha/beta T-Cell Lymphopenia, with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection and Autoimmunity 75
Combined Immunodeficiency with Expansion of Gamma Delta T Cells 59
Combined Immunodeficiency Due to Partial Rag1 Deficiency 59
Cid with Expansion of Gamma Delta T Cells 59
Cid Due to Partial Rag1 Deficiency 59
Autoimmune Diseases 73
Autoimmune State 73
Autoimmunity 44
T-Cmva 75

Characteristics:

Orphanet epidemiological data:

59
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: 59  
Rare immunological diseases


External Ids:

OMIM 57 609889
Orphanet 59 ORPHA231154
ICD10 via Orphanet 34 D81.8
UMLS via Orphanet 74 C1835931
MedGen 42 C1835931

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

UniProtKB/Swiss-Prot : 75 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 autoimmune polyendocrine syndrome, type ii. 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 Allograft rejection. Affiliated tissues include t cells, thyroid and b cells, and related phenotypes are splenomegaly and sepsis

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 1640)
# Related Disease Score Top Affiliating Genes
1 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 34.0 AIRE GAD1 GAD2
2 autoimmune polyendocrine syndrome, type ii 33.9 GAD1 GAD2 INS
3 vitiligo-associated multiple autoimmune disease susceptibility 1 33.8 AIRE CTLA4 PTPN22
4 autoimmune addison disease 33.7 AIRE CTLA4
5 vitiligo-associated multiple autoimmune disease susceptibility 6 33.6 AIRE PTPN22
6 autoimmune enteropathy 33.5 FOXP3 IL17A
7 autoimmune polyendocrine syndrome 33.4 AIRE FOXP3 GAD1 GAD2 IL17A
8 autoimmune uveitis 33.1 IFNG IL10 IL17A
9 autoimmune pancreatitis 33.1 CTLA4 FOXP3 IL10 TNFSF13B
10 autoimmune disease of gastrointestinal tract 33.0 CTLA4 FOXP3 IFNG
11 autoimmune optic neuritis 33.0 FOXP3 IL10 IL17A
12 hashimoto encephalopathy 32.9 TPO TSHR
13 autoimmune atherosclerosis 32.9 FOXP3 HSPD1 IL10
14 autoimmune disease of eyes, ear, nose and throat 32.8 FOXP3 IL10 IL17A
15 hypoadrenocorticism, familial 32.8 AIRE CTLA4 PTPN22 TPO
16 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 32.7 AIRE FOXP3 IFNG IL10 RAG1
17 hashimoto thyroiditis 32.7 AIRE CTLA4 IFNG PTPN22 TG TPO
18 autoimmune disease of the nervous system 32.6 FOXP3 IFNG IL10 IL17A
19 autoimmune disease of central nervous system 32.6 FOXP3 IFNG IL10 IL17A
20 autoimmune disease of musculoskeletal system 32.5 FOXP3 IL10 IL17A PTPN22 TNFSF13B
21 graves disease 1 32.3 INS TG TPO TSHR
22 graves' disease 32.2 CTLA4 IFNG PTPN22 TG TPO TSHR
23 stiff-person syndrome 32.1 GAD1 GAD2 INS
24 myasthenia gravis 32.1 AIRE CTLA4 IFNG IL10 TNFSF13B
25 limbic encephalitis 32.0 GAD1 GAD2 TPO
26 autoimmune disease of endocrine system 31.9 AIRE CTLA4 FOXP3 IFNG INS PTPN22
27 diabetes mellitus, ketosis-prone 31.9 GAD1 GAD2 INS
28 pernicious anemia 31.8 AIRE TG TPO
29 vogt-koyanagi-harada disease 31.7 IL10 IL17A PTPN22
30 alopecia areata 31.7 AIRE CTLA4 IFNG IL17A PTPN22
31 mixed connective tissue disease 31.6 HSPD1 IFNG IL10
32 arthritis 31.5 IFNG IL10 IL17A PTPN22
33 hyperthyroidism 31.4 CTLA4 INS TG TPO TSHR
34 multiple sclerosis 31.4 CTLA4 FOXP3 IFNG IL10 IL17A TNFSF13B
35 psoriasis 31.4 IFNG IL10 IL17A PTPN22
36 connective tissue disease 31.4 HSPD1 IFNG IL10 TNFSF13B
37 autoimmune disease 31.3 AIRE CTLA4 FOXP3 GAD1 GAD2 HSPD1
38 thyroiditis 31.3 CTLA4 PTPN22 TG TPO TSHR
39 celiac disease 1 31.3 CTLA4 FOXP3 IFNG IL10 PTPN22 TG
40 rheumatoid arthritis 31.1 CTLA4 FOXP3 IFNG IL10 IL17A PTPN22
41 behcet syndrome 31.1 CTLA4 HSPD1 IFNG IL10 IL17A
42 systemic lupus erythematosus 31.1 CTLA4 FOXP3 IFNG IL10 IL17A PTPN22
43 reactive arthritis 31.0 HSPD1 IFNG IL10 IL17A
44 hypothyroidism 31.0 AIRE CTLA4 TG TPO TSHR
45 uveitis 30.7 CTLA4 IFNG IL10 IL17A
46 diabetes mellitus, insulin-dependent 30.6 AIRE CTLA4 FOXP3 GAD1 GAD2 HSPD1
47 diabetes mellitus 30.5 AIRE CTLA4 FOXP3 GAD1 GAD2 HSPD1
48 goiter 30.4 TG TPO TSHR
49 candidiasis 30.4 AIRE IFNG IL10 IL17A
50 lymphopenia 30.2 FOXP3 IFNG RAG1

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:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
2 sepsis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100806
3 decrease in t cell count 59 32 hallmark (90%) Very frequent (99-80%) HP:0005403
4 b lymphocytopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0010976
5 autoimmune hemolytic anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001890
6 autoimmune neutropenia 59 32 frequent (33%) Frequent (79-30%) HP:0001904
7 severe combined immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0004430
8 interstitial pneumonitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0006515
9 immunodeficiency 59 Very frequent (99-80%)
10 autoimmunity 59 Occasional (29-5%)

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

46 (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 73 / NDF-RT 51 :


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 29 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:

41
T Cells, Thyroid, B Cells, Bone, Breast, Liver, Neutrophil

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 1703)
# Title Authors Year
1
The pathogenesis of thyroid autoimmune diseases: New T lymphocytes - Cytokines circuits beyond the Th1-Th2 paradigm. ( 30246383 )
2019
2
Immunomodulatory effects of probiotics: Can they be used to treat allergies and autoimmune diseases? ( 30502748 )
2019
3
Association between interleukin 37 (rs3811047) polymorphism and multiple autoimmune diseases in a Chinese population: A PRISMA-compliant meta-analysis. ( 29642198 )
2018
4
Autoimmune Diseases in Patients With Cutaneous Lupus Erythematosus. ( 29801110 )
2018
5
TNF Receptor Type II as an Emerging Drug Target for the Treatment of Cancer, Autoimmune Diseases, and Graft-Versus-Host Disease: Current Perspectives and <i>In Silico</i> Search for Small Molecule Binders. ( 29967617 )
2018
6
The risk of alopecia areata and other related autoimmune diseases in patients with sleep disorders: a Korean population-based retrospective cohort study. ( 29955877 )
2018
7
IL-6/STAT3 pathway induced deficiency of RFX1 contributes to Th17-dependent autoimmune diseases via epigenetic regulation. ( 29422534 )
2018
8
Molecular mimicry: An explanation for autoimmune diseases and infertility. ( 29935034 )
2018
9
Chagas disease and systemic autoimmune diseases among Bolivian patients in Switzerland. ( 29412344 )
2018
10
Systemic autoimmune diseases are associated with an increased risk of bipolar disorder: A nationwide population-based cohort study. ( 29049933 )
2018
11
The influence of thyroid diseases, diabetes mellitus, primary hyperparathyroidism, vitamin B12 deficiency and other comorbid autoimmune diseases on treatment outcome in patients with rheumatoid arthritis: An exploratory cohort study. ( 29794789 )
2018
12
Pharmacogenetics: A strategy for personalized medicine for autoimmune diseases. ( 29194620 )
2018
13
Clinical features and outcome of lymphoma patients with pre-existing autoimmune diseases. ( 29205866 )
2018
14
Familial association of attention-deficit hyperactivity disorder with autoimmune diseases in the population of Sweden. ( 30407269 )
2018
15
Correction to: Associations between attention-deficit/hyperactivity disorder and autoimmune diseases are modified by sex: a population-based cross-sectional study. ( 29196875 )
2018
16
Associations between attention-deficit/hyperactivity disorder and autoimmune diseases are modified by sex: a population-based cross-sectional study. ( 28983730 )
2018
17
Extrahepatic autoimmune diseases in patients with autoimmune hepatitis and their relatives: A Danish nationwide cohort study. ( 30218621 )
2018
18
Nonuremic Calciphylaxis: Four Cases Associated with Autoimmune Diseases. ( 30207525 )
2018
19
Primary biliary cholangitis and its association with other autoimmune diseases in a Mexican cohort. ( 30541671 )
2018
20
Cigarette smoking associates inversely with a cluster of two autoimmune diseases: ulcerative colitis and pemphigus. ( 30112667 )
2018
21
Immune Reconstitution After Autologous Hematopoietic Stem Cell Transplantation in Crohn's Disease: Current Status and Future Directions. A Review on Behalf of the EBMT Autoimmune Diseases Working Party and the Autologous Stem Cell Transplantation In Refractory CD-Low Intensity Therapy Evaluation Study Investigators. ( 29670622 )
2018
22
A patient presenting with isolated hematuria and renal dysfunction as rare manifestation of cryoglobulinemic glomerulonephritis in the course of autoimmune diseases including Sjögren's syndrome. ( 29671215 )
2018
23
Autologous Hematopoietic Stem Cell Transplantation for Autoimmune Diseases: From Mechanistic Insights to Biomarkers. ( 30505303 )
2018
24
Hematopoietic stem cell transplantation for autoimmune diseases: more than just prolonged immunosuppression. ( 30157069 )
2018
25
Resetting the T Cell Compartment in Autoimmune Diseases With Autologous Hematopoietic Stem Cell Transplantation: An Update. ( 29731752 )
2018
26
Autoimmune diseases after hepatitis B immunization in adults: Literature review and meta-analysis, with reference to 'autoimmune/autoinflammatory syndrome induced by adjuvants' (ASIA). ( 30100071 )
2018
27
HIGH-DOSE GLUCOCORTICOID TREATMENT DOES NOT INDUCE SEVERE HYPERGLYCEMIA IN YOUNG PATIENTS WITH AUTOIMMUNE DISEASES BY CGMS. ( 29106815 )
2018
28
Can we treat systemic lupus erythematosus and other autoimmune diseases without oral steroids? ( 30328733 )
2018
29
STAT4 gene polymorphism in two major autoimmune diseases (multiple sclerosis and juvenile onset systemic lupus erythematosus) and its relation to disease severity. ( 29881250 )
2018
30
Brief Report: Risk of Childhood Rheumatic and Nonrheumatic Autoimmune Diseases in Children Born to Women With Systemic Lupus Erythematosus. ( 29790298 )
2018
31
SP140 regulates the expression of immune-related genes associated with multiple sclerosis and other autoimmune diseases by NF-κB inhibition. ( 30102396 )
2018
32
Autoimmune diseases in myelodysplastic syndrome favors patients survival: A case control study and literature review. ( 30408583 )
2018
33
Autoimmune diseases associated with Neuromyelitis Optica Spectrum Disorders: A literature review. ( 30476871 )
2018
34
Systemic autoimmune diseases are associated with an increased risk of obsessive-compulsive disorder: a nationwide population-based cohort study. ( 30406283 )
2018
35
A total-population multigenerational family clustering study of autoimmune diseases in obsessive-compulsive disorder and Tourette's/chronic tic disorders. ( 29133949 )
2018
36
Pancreatic cancer and autoimmune diseases: An association sustained by computational and epidemiological case-control approaches. ( 30229903 )
2018
37
Pleuroparenchymal fibroelastosis as a histological background of autoimmune diseases. ( 30327882 )
2018
38
Postpartum Depression and Subsequent Autoimmune Diseases in Taiwan. ( 30127260 )
2018
39
Neutrophilic Dermatoses in Autoimmune Diseases: Report of Two Cases Associated with Autoimmune Thyroiditis. ( 29594105 )
2018
40
Prevalence of overlap of antineutrophil cytoplasmic antibody associated vasculitis with systemic autoimmune diseases: an unrecognized example of poliautoimmunity. ( 30006919 )
2018
41
Inflammation and atherosclerosis: Cardiovascular evaluation in patients with autoimmune diseases. ( 29730525 )
2018
42
Plantago squarrosa Murray extracts inhibit the growth of some bacterial triggers of autoimmune diseases: GC-MS analysis of an inhibitory extract. ( 30446926 )
2018
43
Late-onset biopsy-proven lupus nephritis without other associated autoimmune diseases: severity and long-term outcome. ( 30442061 )
2018
44
Migraine in Systemic Autoimmune Diseases. ( 29173190 )
2018
45
Sarcoidosis and autoimmune diseases: differences, similarities and overlaps. ( 29985181 )
2018
46
Effects of co-existing autoimmune diseases on serum lipids and lipoprotein subclasses profile in paediatric patients with type 1 diabetes mellitus. ( 29410325 )
2018
47
Endoplasmic reticulum stress in autoimmune diseases: Can altered protein quality control and/or unfolded protein response contribute to autoimmunity? A critical review on Sjögren's syndrome. ( 29890347 )
2018
48
Elevated total serum IgE in vitiligo might be protective for other autoimmune diseases. ( 29704453 )
2018
49
Screening for Latent Tuberculosis Infection in Patients with Autoimmune Diseases Before Initiating TNF-α Inhibitors Therapy. ( 30429686 )
2018
50
Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review. ( 29720879 )
2018

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:

75
# 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
# 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

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
12.18 CTLA4 FOXP3 GAD1 GAD2 HSPD1 IFNG
3
Show member pathways
12.14 CTLA4 IFNG IL10 IL17A
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 11.51 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 9.84 GAD1 GAD2 HSPD1 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 negative regulation of reactive oxygen species biosynthetic process GO:1903427 9.49 HSPD1 INS
14 hormone biosynthetic process GO:0042446 9.48 TG TPO
15 negative regulation of interleukin-17 production GO:0032700 9.46 FOXP3 IFNG
16 positive regulation of interleukin-23 production GO:0032747 9.4 IFNG IL17A
17 glutamate decarboxylation to succinate GO:0006540 9.26 GAD1 GAD2
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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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