MCID: ALP042
MIFTS: 61

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

Categories: Genetic diseases, Blood diseases, Rare diseases, Immune 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 addison disease. 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, b cells and thyroid, 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 1404)
# Related Disease Score Top Affiliating Genes
1 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 34.3 AIRE GAD1 GAD2
2 autoimmune addison disease 34.1 AIRE CTLA4 PTPN22
3 vitiligo-associated multiple autoimmune disease susceptibility 1 33.7 AIRE CTLA4 PTPN22 TPO
4 autoimmune enteropathy 33.5 FOXP3 IL17A
5 autoimmune polyendocrine syndrome, type ii 33.4 AIRE GAD1 GAD2 INS
6 hypoadrenocorticism, familial 32.9 AIRE CTLA4 PTPN22 TPO
7 graves disease 1 32.8 TG TPO TSHR
8 autoimmune polyendocrine syndrome 32.6 AIRE FOXP3 GAD1 GAD2 IL17A
9 primary biliary cholangitis 32.5 CTLA4 PTPN22
10 limbic encephalitis 32.4 GAD1 GAD2 TPO
11 pernicious anemia 32.1 AIRE TG TPO
12 stiff-person syndrome 32.1 GAD1 GAD2 INS
13 diabetes mellitus, ketosis-prone 31.8 GAD1 GAD2 INS
14 alopecia areata 31.5 AIRE CTLA4 IFNG PTPN22
15 vogt-koyanagi-harada disease 31.4 IL10 IL17A PTPN22
16 hashimoto thyroiditis 31.3 AIRE CTLA4 IFNG PTPN22 TG TPO
17 anterior uveitis 31.0 CTLA4 PTPN22
18 thyroiditis 31.0 CTLA4 PTPN22 TG TPO TSHR
19 chronic active epstein-barr virus infection 30.9 CTLA4 IFNG IL10
20 myasthenia gravis 30.9 AIRE CTLA4 IFNG IL10 TNFSF13B
21 hyperthyroidism 30.7 CTLA4 INS TG TPO TSHR
22 wegener granulomatosis 30.7 CTLA4 IFNG IL10 PTPN22
23 graves' disease 30.7 AIRE CTLA4 IFNG PTPN22 TG TPO
24 mixed connective tissue disease 30.7 HSPD1 IFNG IL10
25 hypothyroidism 30.6 AIRE CTLA4 TG TPO TSHR
26 arthritis 30.5 IFNG IL10 IL17A PTPN22
27 goiter 30.3 TG TPO TSHR
28 reactive arthritis 30.3 HSPD1 IFNG IL10
29 immune deficiency disease 30.2 IFNG IL10 RAG1
30 psoriasis 30.1 IFNG IL10 IL17A PTPN22
31 connective tissue disease 30.0 HSPD1 IFNG IL10 TNFSF13B
32 plummer's disease 30.0 TG TPO
33 premature menopause 30.0 TG TPO
34 endemic goiter 29.9 TG TPO TSHR
35 subacute thyroiditis 29.9 TG TPO TSHR
36 nodular goiter 29.9 TG TPO TSHR
37 autoimmune disease of endocrine system 29.9 AIRE CTLA4 FOXP3 IFNG PTPN22 TG
38 neonatal hypothyroidism 29.9 TG TPO TSHR
39 lymphopenia 29.8 FOXP3 IFNG RAG1
40 systemic lupus erythematosus 29.8 CTLA4 IFNG IL10 IL17A PTPN22 TNFSF13B
41 multinodular goiter 29.8 TG TPO TSHR
42 uveitis 29.6 CTLA4 IFNG IL10 IL17A
43 hematopoietic stem cell transplantation 29.6 CTLA4 IFNG IL10
44 struma ovarii 29.5 TG TSHR
45 nontoxic goiter 29.5 TG TPO TSHR
46 candidiasis 29.4 AIRE IFNG IL10 IL17A
47 follicular adenoma 29.4 TG TPO TSHR
48 multiple sclerosis 29.4 CTLA4 FOXP3 IFNG IL10 IL17A TNFSF13B
49 congenital hypothyroidism 29.3 TG TPO TSHR
50 papillary carcinoma 29.3 TG TPO TSHR

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 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.39 TSHR GAD1 CTLA4 GAD2 FOXP3 AIRE
2 growth/size/body region MP:0005378 10.38 TSHR GAD1 GAD2 FOXP3 AIRE IFNG
3 homeostasis/metabolism MP:0005376 10.36 TPO TSHR GAD1 CTLA4 FOXP3 AIRE
4 hematopoietic system MP:0005397 10.34 TPO TSHR CTLA4 FOXP3 AIRE IFNG
5 immune system MP:0005387 10.31 TPO TSHR CTLA4 FOXP3 AIRE IFNG
6 digestive/alimentary MP:0005381 10.3 GAD1 CTLA4 GAD2 FOXP3 AIRE IFNG
7 mortality/aging MP:0010768 10.3 TPO TSHR GAD1 CTLA4 FOXP3 AIRE
8 behavior/neurological MP:0005386 10.27 TSHR GAD1 FOXP3 AIRE IL10 IFNG
9 nervous system MP:0003631 10.13 TSHR AIRE GAD1 HSPD1 IL10 IFNG
10 craniofacial MP:0005382 10.11 TPO GAD1 FOXP3 IL10 IFNG GAD2
11 liver/biliary system MP:0005370 10.08 CTLA4 FOXP3 AIRE IFNG IL10 PTPN22
12 normal MP:0002873 10.02 GAD1 CTLA4 FOXP3 AIRE IL10 IFNG
13 no phenotypic analysis MP:0003012 10.01 GAD1 FOXP3 AIRE IL10 IFNG GAD2
14 reproductive system MP:0005389 9.86 TSHR AIRE FOXP3 HSPD1 IL10 IFNG
15 respiratory system MP:0005388 9.85 GAD1 CTLA4 FOXP3 AIRE IFNG IL17A
16 renal/urinary system MP:0005367 9.8 FOXP3 IFNG RAG1 INS PTPN22 IL17A
17 skeleton MP:0005390 9.61 TPO TSHR GAD1 CTLA4 IL10 IFNG
18 vision/eye MP:0005391 9.23 TPO TSHR FOXP3 AIRE IL10 IFNG

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, B Cells, Thyroid, Endothelial, Skin, Liver, Bone

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 1599)
# Title Authors Year
1
Association between interleukin 37 (rs3811047) polymorphism and multiple autoimmune diseases in a Chinese population: A PRISMA-compliant meta-analysis. ( 29642198 )
2018
2
Anti-microbial Antibodies, Host Immunity, and Autoimmune Disease. ( 29876352 )
2018
3
Regulatory T cells in autoimmune disease. ( 29925983 )
2018
4
Autoimmune Diseases in Patients With Cutaneous Lupus Erythematosus. ( 29801110 )
2018
5
Myasthenia gravis: the unmet needs of a paradigmatic autoimmune disease. ( 29943694 )
2018
6
A Cross-Sectional Study of the Association between Autoantibodies and Qualitative Ultrasound Index of Bone in an Elderly Sample without Clinical Autoimmune Disease. ( 29854851 )
2018
7
Autoimmune-Disease-Prone NOD Mice Help To Reveal a New Genetic Locus for Reducing Pulmonary Disease Caused by Mycoplasma pulmonis. ( 29263105 )
2018
8
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
9
Association of Stress-Related Disorders With Subsequent Autoimmune Disease. ( 29922828 )
2018
10
The risk of alopecia areata and other related autoimmune diseases in patients with sleep disorders: a Korean population-based retrospective cohort study. ( 29955877 )
2018
11
Concordance of autoimmune disease in a nationwide Danish systemic lupus erythematosus twin cohort. ( 28755788 )
2018
12
Coexistent sickle-cell anemia and autoimmune disease in eight children: pitfalls and challenges. ( 29343274 )
2018
13
Autoimmune disease associated IFIH1 single nucleotide polymorphism related with IL-18 serum levels in Chinese systemic lupus erythematosus patients. ( 29930297 )
2018
14
Autoimmune disease: Targeting glucose transport in psoriasis. ( 29844603 )
2018
15
IL-6/STAT3 pathway induced deficiency of RFX1 contributes to Th17-dependent autoimmune diseases via epigenetic regulation. ( 29422534 )
2018
16
Autoimmune disease: Aryl hydrocarbon receptor suppresses inflammation. ( 29950706 )
2018
17
Lupus-like autoimmune disease caused by a lack of Xkr8, a caspase-dependent phospholipid scramblase. ( 29440417 )
2018
18
Chronic Paronychia and Onychomadesis in Pemphigus Vegetans: An Unusual Presentation in a Rare Autoimmune Disease. ( 29560011 )
2018
19
Pharmacokinetics and C-reactive protein modelling of anti-interleukin-6 antibody (PF-04236921) in healthy volunteers and patients with autoimmune disease. ( 29776017 )
2018
20
Autoimmune disease, familial clustering and thyroid carcinoma coexistent with autoimmune thyroiditis in children and adolescence: A cross-sectional study from the Czech Republic. ( 29936527 )
2018
21
Impact of Dietary Cholesterol on the Pathophysiology of Infectious and Autoimmune Disease. ( 29899295 )
2018
22
Molecular mimicry: An explanation for autoimmune diseases and infertility. ( 29935034 )
2018
23
How does autoimmune disease impact treatment and outcomes among patients with lung cancer? A national SEER-Medicare analysis. ( 29290269 )
2018
24
Plasma Cell Depletion Attenuates Hypertension in an Experimental Model of Autoimmune Disease. ( 29378858 )
2018
25
Chagas disease and systemic autoimmune diseases among Bolivian patients in Switzerland. ( 29412344 )
2018
26
Systemic autoimmune diseases are associated with an increased risk of bipolar disorder: A nationwide population-based cohort study. ( 29049933 )
2018
27
Anorexia, coeliac and autoimmune disease. ( 29317440 )
2018
28
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
29
Engineered Sialylation of Pathogenic Antibodies InA Vivo Attenuates Autoimmune Disease. ( 29275858 )
2018
30
Epigenetic editing: How cutting-edge targeted epigenetic modification might provide novel avenues for autoimmune disease therapy. ( 29421443 )
2018
31
Use of Immune Checkpoint Inhibitors in the Treatment of Patients With Cancer and Preexisting Autoimmune Disease: A Systematic Review. ( 29297009 )
2018
32
Risk of infantile hemangiomas in the offspring of women with autoimmune disease and the pathogenic implications of these lesions. ( 29341431 )
2018
33
An autoimmune disease-associated risk variant in the<i>TNFAIP3</i>gene plays a protective role in brucellosis that is mediated by the NF-kappa B signaling pathway. ( 29343543 )
2018
34
Pharmacogenetics: A strategy for personalized medicine for autoimmune diseases. ( 29194620 )
2018
35
Atherosclerosis as autoimmune disease. ( 29955576 )
2018
36
Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy-like Autoimmune Disease. ( 29959280 )
2018
37
Is there an association between dipeptidyl peptidase-4 inhibitors and autoimmune disease? A population-based study. ( 29855994 )
2018
38
Isotype-Switched Autoantibodies Are Necessary To Facilitate Central Nervous System Autoimmune Disease in <i>Aicda<sup>-/-</sup></i> and <i>Ung<sup>-/-</sup></i> Mice. ( 29980612 )
2018
39
Combination Therapy with Glucan and Coenzyme Q<sub>10</sub> in Murine Experimental Autoimmune Disease and Cancer. ( 29848676 )
2018
40
Clinical features and outcome of lymphoma patients with pre-existing autoimmune diseases. ( 29205866 )
2018
41
C-terminal truncation of IFN-I^ inhibits proinflammatory macrophage responses and is deficient in autoimmune disease. ( 29925830 )
2018
42
Approaches and advances in the genetic causes of autoimmune disease and their implications. ( 29925982 )
2018
43
Characterizing Autoimmune Disease-associated Diffuse Large B-cell Lymphoma in a SEER-Medicare Cohort. ( 29273217 )
2018
44
The Importance of Sex Stratification in Autoimmune Disease Biomarker Research: A Systematic Review. ( 29915581 )
2018
45
Hypoxia-inducible factor-1I+ is a critical transcription factor for IL-10-producing B cells in autoimmune disease. ( 29343683 )
2018
46
Biomimetic Nanosponges for Treating Antibody-Mediated Autoimmune Diseases. ( 29357234 )
2018
47
Remission of aggressive autoimmune disease (dermatomyositis) with removal of infective jaw pathology and ozone therapy: review and case report. ( 29959639 )
2018
48
The microbiota and autoimmunity: Their role in thyroid autoimmune diseases. ( 28689782 )
2017
49
Treatment with Rutin - A Therapeutic Strategy for Neutrophil-Mediated Inflammatory and Autoimmune Diseases: - Anti-inflammatory Effects of Rutin on Neutrophils. ( 28392963 )
2017
50
Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases. ( 28586827 )
2017

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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.18 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
11.86 IL10 INS RAG1
6
Show member pathways
11.85 IFNG IL10 IL17A TNFSF13B
7 11.51 CTLA4 IFNG IL17A TNFSF13B
8 11.48 IFNG IL10 IL17A
9
Show member pathways
11.43 CTLA4 FOXP3 IFNG
10 11.16 FOXP3 IFNG IL10
11
Show member pathways
10.9 GAD1 GAD2
12
Show member pathways
10.78 GAD1 GAD2
13 10.74 GAD1 GAD2
14
Show member pathways
10.61 GAD1 GAD2
15 10.52 GAD1 GAD2
16 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 17)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.87 FOXP3 IFNG INS PTPN22
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 9.56 FOXP3 TNFSF13B
5 positive regulation of osteoclast differentiation GO:0045672 9.55 IFNG IL17A
6 carboxylic acid metabolic process GO:0019752 9.54 GAD1 GAD2
7 negative regulation of tumor necrosis factor production GO:0032720 9.54 FOXP3 IL10 PTPN22
8 negative regulation of B cell proliferation GO:0030889 9.52 CTLA4 IL10
9 positive regulation of macrophage activation GO:0043032 9.51 HSPD1 IL10
10 negative regulation of T cell proliferation GO:0042130 9.5 CTLA4 FOXP3 IL10
11 neurotransmitter biosynthetic process GO:0042136 9.49 GAD1 GAD2
12 hormone biosynthetic process GO:0042446 9.48 TG TPO
13 negative regulation of interleukin-17 production GO:0032700 9.46 FOXP3 IFNG
14 positive regulation of interleukin-23 production GO:0032747 9.4 IFNG IL17A
15 glutamate decarboxylation to succinate GO:0006540 9.26 GAD1 GAD2
16 immune response GO:0006955 9.17 AIRE CTLA4 IFNG IL10 IL17A RAG1
17 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
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
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74 UMLS via Orphanet
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