MCID: ALP042
MIFTS: 63

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

Categories: Genetic diseases, Immune diseases, Blood 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 53 28 13
Autoimmunity 41 28
Alpha/beta T-Cell Lymphopenia, with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection and Autoimmunity 71
Combined Immunodeficiency with Expansion of Gamma Delta T Cells 55
Combined Immunodeficiency Due to Partial Rag1 Deficiency 55
Cid with Expansion of Gamma Delta T Cells 55
Cid Due to Partial Rag1 Deficiency 55
Autoimmune Diseases 69
Autoimmune State 69
T-Cmva 71

Characteristics:

Orphanet epidemiological data:

55
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: 55  
Rare immunological diseases


External Ids:

OMIM 53 609889
Orphanet 55 ORPHA231154
UMLS via Orphanet 70 C1835931
ICD10 via Orphanet 33 D81.8
MedGen 39 C1835931

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

UniProtKB/Swiss-Prot : 71 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 autoimmunity, is related to autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia and autoimmune addison disease, and has symptoms including splenomegaly, autoimmune hemolytic anemia and autoimmune neutropenia. 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 1414)
# 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 addison disease 33.7 AIRE CTLA4 PTPN22
3 vitiligo-associated multiple autoimmune disease susceptibility 1 33.6 AIRE CTLA4 PTPN22 TPO
4 autoimmune polyendocrine syndrome, type ii 33.4 AIRE GAD1 GAD2 INS
5 autoimmune enteropathy 33.3 FOXP3 IL17A
6 autoimmune polyendocrine syndrome 32.9 AIRE FOXP3 GAD1 GAD2 IL17A
7 hypoadrenocorticism, familial 32.7 AIRE CTLA4 PTPN22 TPO
8 graves disease 1 32.6 TG TPO TSHR
9 limbic encephalitis 32.1 GAD1 GAD2 TPO
10 hashimoto thyroiditis 32.0 AIRE CTLA4 IFNG PTPN22 TG TPO
11 stiff-person syndrome 32.0 GAD1 GAD2 INS
12 pernicious anemia 31.9 AIRE TG TPO
13 myasthenia gravis 31.8 AIRE CTLA4 IFNG IL10
14 diabetes mellitus, ketosis-prone 31.8 GAD1 GAD2 INS
15 graves' disease 31.6 CTLA4 IFNG PTPN22 TG TPO TSHR
16 alopecia areata 31.4 AIRE CTLA4 IFNG PTPN22
17 vogt-koyanagi-harada disease 31.3 IL10 IL17A PTPN22
18 mixed connective tissue disease 31.1 HSPD1 IFNG IL10
19 wegener granulomatosis 31.0 CTLA4 IFNG IL10 PTPN22
20 chronic active epstein-barr virus infection 31.0 CTLA4 IFNG IL10
21 hyperthyroidism 31.0 CTLA4 INS TG TPO TSHR
22 arthritis 30.9 IFNG IL10 IL17A PTPN22
23 autoimmune disease of endocrine system 30.9 AIRE CTLA4 FOXP3 IFNG PTPN22 TG
24 thyroiditis 30.8 CTLA4 IFNG TG TPO TSHR
25 hypothyroidism 30.8 TG TPO TSHR
26 diabetes mellitus 30.8 AIRE CTLA4 GAD1 GAD2 INS PTPN22
27 connective tissue disease 30.6 HSPD1 IFNG IL10 TNFSF13B
28 anterior uveitis 30.6 CTLA4 PTPN22
29 reactive arthritis 30.4 HSPD1 IFNG IL10 IL17A
30 immune deficiency disease 30.4 IFNG IL10 RAG1
31 goiter 30.1 TG TPO TSHR
32 celiac disease 1 30.1 CTLA4 FOXP3 IFNG IL10 PTPN22 TG
33 rheumatoid arthritis 30.0 CTLA4 FOXP3 IFNG IL10 IL17A PTPN22
34 uveitis 29.9 CTLA4 IFNG IL10 IL17A
35 systemic lupus erythematosus 29.9 CTLA4 FOXP3 IFNG IL10 IL17A PTPN22
36 lymphopenia 29.9 FOXP3 IFNG RAG1
37 candidiasis 29.8 AIRE IFNG IL10 IL17A
38 plummer's disease 29.8 TG TPO
39 multiple sclerosis 29.8 CTLA4 FOXP3 HSPD1 IFNG IL10 IL17A
40 endemic goiter 29.7 TG TPO TSHR
41 subacute thyroiditis 29.7 TG TPO TSHR
42 pediatric systemic lupus erythematosus 29.7 PTPN22 TNFSF13B
43 nodular goiter 29.7 TG TPO TSHR
44 premature menopause 29.7 TG TPO
45 behcet syndrome 29.6 CTLA4 HSPD1 IFNG IL10 IL17A
46 multinodular goiter 29.6 TG TPO TSHR
47 hematopoietic stem cell transplantation 29.5 CTLA4 IFNG IL10
48 neonatal hypothyroidism 29.5 TG TPO TSHR
49 demyelinating disease 29.4 IFNG IL10 IL17A
50 type 1 diabetes mellitus 12 29.3 CTLA4 INS

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:

55 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001744
2 autoimmune hemolytic anemia 55 31 frequent (33%) Frequent (79-30%) HP:0001890
3 autoimmune neutropenia 55 31 frequent (33%) Frequent (79-30%) HP:0001904
4 severe combined immunodeficiency 55 31 hallmark (90%) Very frequent (99-80%) HP:0004430
5 decrease in t cell count 55 31 hallmark (90%) Very frequent (99-80%) HP:0005403
6 interstitial pneumonitis 55 31 hallmark (90%) Very frequent (99-80%) HP:0006515
7 b lymphocytopenia 55 31 hallmark (90%) Very frequent (99-80%) HP:0010976
8 sepsis 55 31 hallmark (90%) Very frequent (99-80%) HP:0100806
9 immunodeficiency 55 Very frequent (99-80%)
10 autoimmunity 55 Occasional (29-5%)

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

43 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.38 AIRE CTLA4 FOXP3 GAD1 GAD2 IFNG
2 growth/size/body region MP:0005378 10.37 AIRE FOXP3 GAD1 GAD2 HSPD1 IFNG
3 homeostasis/metabolism MP:0005376 10.34 CTLA4 FOXP3 GAD1 GAD2 IFNG IL10
4 hematopoietic system MP:0005397 10.32 AIRE CTLA4 FOXP3 IFNG IL10 IL17A
5 digestive/alimentary MP:0005381 10.29 IL10 IL17A INS PTPN22 RAG1 AIRE
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 craniofacial MP:0005382 10.1 FOXP3 GAD1 GAD2 IFNG IL10 IL17A
10 nervous system MP:0003631 10.1 AIRE GAD1 GAD2 HSPD1 IFNG IL10
11 liver/biliary system MP:0005370 10.06 FOXP3 IFNG IL10 INS PTPN22 RAG1
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 AIRE FOXP3 GAD2 HSPD1 IFNG IL10
15 respiratory system MP:0005388 9.85 RAG1 AIRE CTLA4 FOXP3 GAD1 GAD2
16 skeleton MP:0005390 9.61 INS RAG1 TPO TSHR CTLA4 GAD1
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 47 :


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 28 RAG1
2 Autoimmunity 28

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:

38
T Cells

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 11473)
# Title Authors Year
1
NMDA receptor autoimmunity in mania following HSV encephalitis. ( 29439749 )
2018
2
Lupus-like autoimmune disease caused by a lack of Xkr8, a caspase-dependent phospholipid scramblase. ( 29440417 )
2018
3
Seronegative autoimmune autonomic neuropathy: a distinct clinical entity. ( 29280036 )
2018
4
Features of Adult Autoimmune Enteropathy Compared With Refractory Celiac Disease. ( 29307846 )
2018
5
Autoimmune necrotising myopathy and HMGCR antibodies. ( 29439058 )
2018
6
Long-term observation of acute-onset autoimmune hepatitis presenting clinically and radiologically as acute hepatitis. ( 29450869 )
2018
7
Successful treatment of refractory autoimmune hemolytic anemia after allogeneic hematopoietic stem cell transplantation with bortezomib. ( 29345206 )
2018
8
Engineered Sialylation of Pathogenic Antibodies InA Vivo Attenuates Autoimmune Disease. ( 29275858 )
2018
9
Focal Autoimmune Pancreatitis Mimicking Pancreatic Cancer on FDG PET/CT Imaging. ( 29189377 )
2018
10
Characterizing Autoimmune Disease-associated Diffuse Large B-cell Lymphoma in a SEER-Medicare Cohort. ( 29273217 )
2018
11
Protective effects of Punica granatum (pomegranate) peel extract on concanavalin A-induced autoimmune hepatitis in mice. ( 29428670 )
2018
12
Endoscopic ultrasound guided 22 gauge core needle biopsy for the diagnosis of Autoimmune pancreatitis. ( 29338920 )
2018
13
Autoantibodies to the survival of motor neuron complex in a patient with necrotizing autoimmune myopathy. ( 29088473 )
2018
14
Autoimmune hepatitis as a complication of common variable immunodeficiency. ( 29368942 )
2018
15
Autoimmune Hepatitis in Children. ( 29446799 )
2018
16
Treatment strategies for autoimmune encephalitis. ( 29399043 )
2018
17
Association of interleukin (IL)-4 variable number of tandem repeats (VNTRs) and IL-4-590 promoter polymorphisms with susceptibility to pediatric autoimmune hepatitis type 1. ( 29396050 )
2018
18
Rapid whole genome sequencing identifies a novel AIRE variant associated with Autoimmune Polyendocrine Syndrome Type 1. ( 29437776 )
2018
19
Life-threatening autoimmune warm hemolytic anemia following treatment for multiple sclerosis with alemtuzumab. ( 29359614 )
2018
20
Febrile infection-related epilepsy syndrome (FIRES) with super-refractory status epilepticus revealing autoimmune encephalitis due to GABA<sub>A</sub>R antibodies. ( 29203057 )
2018
21
SOCS3 deficiency in myeloid cells promotes retinal degeneration and angiogenesis through arginase-1 up-regulation in experimental autoimmune uveoretinitis. ( 29452101 )
2018
22
Differential anxiety-like responses in NOD/ShiLtJ and C57BL/6J mice following experimental autoimmune encephalomyelitis induction and oral gavage. ( 29444620 )
2018
23
Chagas disease and systemic autoimmune diseases among Bolivian patients in Switzerland. ( 29412344 )
2018
24
Glioblastoma as differential diagnosis of autoimmune encephalitis. ( 29383516 )
2018
25
EVALUATION OF DYNAMIC THIOL-DISULPHIDE HOMEOSTASIS IN CHILDREN AND ADOLESCENTS WITH NON-AUTOIMMUNE SUBCLINICAL HYPOTHYROIDISM. ( 29402856 )
2018
26
How does autoimmune disease impact treatment and outcomes among patients with lung cancer? A national SEER-Medicare analysis. ( 29290269 )
2018
27
Airway Autoimmune Inflammatory Response (AAIR) Syndrome: An Asthma-Autoimmune Overlap Disorder? ( 29449341 )
2018
28
Hypoxia-inducible factor-1I+ is a critical transcription factor for IL-10-producing B cells in autoimmune disease. ( 29343683 )
2018
29
Autonomous role of Wiskott-Aldrich Syndrome platelet deficiency in inducing autoimmunity and inflammation. ( 29421274 )
2018
30
BAFF and APRIL expression as an autoimmune signature of membranous nephropathy. ( 29423047 )
2018
31
Autoimmune encephalitis associated with glutamic acid decarboxylase antibodies: a case series. ( 29349679 )
2018
32
Autoimmune polyendocrine syndrome type 2 in patient with severe allergic asthma treated with omalizumab. ( 29300536 )
2018
33
Type 1 autoimmune hepatitis presenting with severe autoimmune neutropenia. ( 29333079 )
2018
34
Thymoma-associated multiorgan autoimmunity with exclusive gastrointestinal tract involvement: case report and review of the literature. ( 29374317 )
2018
35
Autoimmunity and Frontotemporal Dementia. ( 29357796 )
2018
36
Mesenchymal stem cells inhibited dendritic cells via the regulation of STAT1 and STAT6 phosphorylation in experimental autoimmune uveitis. ( 29424313 )
2018
37
Autoimmune liver disease-related autoantibodies in patients with biliary atresia. ( 29391761 )
2018
38
Autoimmune autonomic neuropathies: time to look beyond autoimmune autonomic ganglionopathy. ( 29305816 )
2018
39
The dynamic changes in myocardial collagen metabolism in experimental autoimmune myocarditis rats. ( 29305900 )
2018
40
Acute autoimmune myocarditis and hepatitis due to ipilimumab monotherapy for malignant melanoma. ( 29444608 )
2018
41
Risk of infantile hemangiomas in the offspring of women with autoimmune disease and the pathogenic implications of these lesions. ( 29341431 )
2018
42
Symptomatic Non-acidic Reflux in a Patient With Chronic Autoimmune Atrophic Gastritis Successfully Treated With Anti-reflux Surgery. ( 29291616 )
2018
43
Autoimmune fasciitis triggered by the anti-programmed cell death-1 monoclonal antibody nivolumab. ( 29437773 )
2018
44
Exacerbation of autoimmune hemolytic anemia induced by the first dose of programmed death-1 inhibitor pembrolizumab: a case report. ( 29340837 )
2018
45
Fatal Talaromyces marneffei Infection in a Patient with Autoimmune Hepatitis. ( 29349620 )
2018
46
Anorexia, coeliac and autoimmune disease. ( 29317440 )
2018
47
The effect of vitamin D supplementation on thyroid autoantibody levels in the treatment of autoimmune thyroiditis: a systematic review and a meta-analysis. ( 29388046 )
2018
48
Epigenetic changes and their implications in autoimmune hepatitis. ( 29383703 )
2018
49
Clinical significance of serum anti-GM-CSF autoantibody levels in autoimmune pulmonary alveolar proteinosis. ( 29202602 )
2018
50
Durable responses in refractory autoimmune hemolytic anemia with alemtuzumab. ( 29334337 )
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:

71
# 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.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)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.4 FOXP3 IFNG IL10 IL17A
2
Show member pathways
12.19 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
11.95 IFNG IL10 IL17A
6
Show member pathways
11.72 IFNG IL10 IL17A
7 11.58 CTLA4 IFNG IL17A TNFSF13B
8 11.54 IFNG IL10 IL17A
9
Show member pathways
11.49 CTLA4 FOXP3 IFNG
10 11.38 CTLA4 FOXP3 IL10 TNFSF13B
11 11.24 FOXP3 IFNG IL10
12
Show member pathways
11.1 FOXP3 IFNG IL10
13
Show member pathways
10.92 GAD1 GAD2
14
Show member pathways
10.8 GAD1 GAD2
15 10.77 GAD1 GAD2
16
Show member pathways
10.62 GAD1 GAD2
17 10.54 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 9.23 HSPD1 IFNG IL10 IL17A INS TG
2 inhibitory synapse GO:0060077 9.16 GAD1 GAD2
3 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane GO:0061202 8.96 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 18)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.81 IL10 IL17A INS TSHR
2 regulation of 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 9.57 IFNG IL17A
6 carboxylic acid metabolic process GO:0019752 9.56 GAD1 GAD2
7 negative regulation of B cell proliferation GO:0030889 9.55 CTLA4 IL10
8 positive regulation of macrophage activation GO:0043032 9.54 HSPD1 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 negative regulation of T cell proliferation GO:0042130 9.5 CTLA4 FOXP3 IL10
12 neurotransmitter biosynthetic process GO:0042136 9.49 GAD1 GAD2
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 immune response GO:0006955 9.17 AIRE CTLA4 IFNG IL10 IL17A RAG1
18 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

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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