T-CMVA
MCID: ALP042
MIFTS: 67

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 74
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 72
Autoimmune State 72
Autoimmunity 44
T-Cmva 74

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
ICD10 via Orphanet 34 D81.8
UMLS via Orphanet 73 C1835931
Orphanet 59 ORPHA231154
MedGen 42 C1835931
UMLS 72 C0004364 C0004368

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

UniProtKB/Swiss-Prot : 74 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 T cell receptor signaling pathway. The drugs Sofosbuvir and Ledipasvir have been mentioned in the context of this disorder. Affiliated tissues include t cells, thyroid and b cells, and related phenotypes are splenomegaly and immunodeficiency

More information 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 2823)
# Related Disease Score Top Affiliating Genes
1 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 34.7 GAD2 GAD1 AIRE
2 autoimmune addison disease 34.6 CTLA4 AIRE
3 vitiligo-associated multiple autoimmune disease susceptibility 1 34.5 PTPN22 CTLA4 AIRE
4 vitiligo-associated multiple autoimmune disease susceptibility 6 34.3 PTPN22 AIRE
5 autoimmune polyendocrine syndrome, type ii 34.3 INS GAD2 GAD1
6 autoimmune enteropathy 33.8 IL17A FOXP3
7 hashimoto encephalopathy 33.5 TSHR TPO
8 hypoadrenocorticism, familial 33.3 TPO PTPN22 CTLA4 AIRE
9 autoimmune polyendocrine syndrome 33.2 IL17A GAD2 GAD1 FOXP3 AIRE
10 autoimmune disease of gastrointestinal tract 33.2 IFNG FOXP3 CTLA4
11 autoimmune uveitis 33.1 IL17A IL10 IFNG
12 autoimmune optic neuritis 32.8 IL17A IL10 FOXP3
13 celiac disease 1 32.8 TPO TG PTPN22 CTLA4
14 autoimmune pancreatitis 32.7 TNFSF13B IL10 FOXP3 CTLA4
15 pernicious anemia 32.7 TPO TG AIRE
16 autoimmune disease of eyes, ear, nose and throat 32.7 IL17A IL10 FOXP3
17 limbic encephalitis 32.6 TPO GAD2 GAD1
18 autoimmune atherosclerosis 32.5 IL10 HSPD1 FOXP3
19 stiff-person syndrome 32.5 INS GAD2 GAD1
20 graves disease 1 32.5 TSHR TPO TG INS
21 diabetes mellitus, ketosis-prone 32.4 INS GAD2 GAD1
22 hashimoto thyroiditis 32.2 TSHR TPO TG PTPN22 IFNG CTLA4
23 autoimmune disease of central nervous system 32.2 IL17A IL10 IFNG FOXP3
24 alopecia areata 32.1 PTPN22 IFNG CTLA4 AIRE
25 graves' disease 32.1 TSHR TPO TG PTPN22 IFNG CTLA4
26 vogt-koyanagi-harada disease 32.1 PTPN22 IL17A IL10
27 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 32.1 RAG1 IL10 IFNG FOXP3 AIRE
28 myxedema 32.0 TSHR TPO TG CTLA4
29 autoimmune disease of musculoskeletal system 31.9 TNFSF13B PTPN22 IL17A IL10 FOXP3
30 myasthenia gravis 31.8 TNFSF13B IL10 IFNG CTLA4 AIRE
31 thyroiditis 31.5 TSHR TPO TG PTPN22 CTLA4
32 hyperthyroidism 31.5 TSHR TPO TG INS CTLA4
33 goiter 31.5 TSHR TPO TG
34 mixed connective tissue disease 31.5 IL10 IFNG HSPD1
35 bronchiolitis obliterans 31.3 IL17A IL10 IFNG
36 hypothyroidism 31.3 TSHR TPO TG CTLA4 AIRE
37 arthritis 31.2 PTPN22 IL17A IL10 IFNG
38 thyroid gland disease 31.0 TSHR TPO TG INS
39 connective tissue disease 31.0 TNFSF13B IL10 IFNG HSPD1
40 multinodular goiter 30.8 TSHR TPO TG
41 lymphopenia 30.8 RAG1 IFNG FOXP3
42 nodular goiter 30.7 TSHR TPO TG
43 reactive arthritis 30.7 IL17A IL10 IFNG HSPD1
44 subacute thyroiditis 30.6 TSHR TPO TG
45 demyelinating disease 30.6 IL17A IL10 IFNG
46 uveitis 30.6 IL17A IL10 IFNG CTLA4
47 endemic goiter 30.5 TSHR TPO TG
48 behcet syndrome 30.5 IL17A IL10 IFNG HSPD1 CTLA4
49 hematopoietic stem cell transplantation 30.5 IL10 IFNG CTLA4
50 plummer's disease 30.4 TPO TG

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:

59 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 59 Very frequent (99-80%)
2 immunodeficiency 59 Very frequent (99-80%)
3 autoimmunity 59 Occasional (29-5%)
4 sepsis 59 Very frequent (99-80%)
5 decrease in t cell count 59 Very frequent (99-80%)
6 b lymphocytopenia 59 Very frequent (99-80%)
7 autoimmune hemolytic anemia 59 Frequent (79-30%)
8 neutropenia in presence of anti-neutropil antibodies 59 Frequent (79-30%)
9 severe combined immunodeficiency 59 Very frequent (99-80%)
10 interstitial pneumonitis 59 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:

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,...

Drugs for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 587)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
2
Ledipasvir Approved Phase 4 1256388-51-8 67505836
3
Simvastatin Approved Phase 4 79902-63-9 54454
4
Azithromycin Approved Phase 4 83905-01-5 447043 55185
5
Azathioprine Approved Phase 4 446-86-6 2265
6
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
7
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
8
Insulin glargine Approved Phase 4 160337-95-1
9
Insulin Aspart Approved Phase 4 116094-23-6 16132418
10
Aceclofenac Approved, Investigational Phase 4 89796-99-6
11
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
12
Metformin Approved Phase 4 657-24-9 4091 14219
13
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
14
Omalizumab Approved, Investigational Phase 4 242138-07-4
15 Orange Approved Phase 4
16 Strawberry Approved Phase 4
17 Artichoke Approved Phase 4
18
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
19
Minocycline Approved, Investigational Phase 4 10118-90-8 5281021
20
Etanercept Approved, Investigational Phase 4 185243-69-0
21
Artesunate Approved, Investigational Phase 4 88495-63-0 5464098 6917864
22
Angiotensin II Approved, Investigational Phase 4 11128-99-7, 68521-88-0, 4474-91-3 172198
23
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
24
Dimethyl fumarate Approved, Investigational Phase 4 624-49-7 5271565 637568
25
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
26
belimumab Approved Phase 4 356547-88-1 5957 10451420
27
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
28
Aldesleukin Approved Phase 4 85898-30-2, 110942-02-4
29
Mycophenolic acid Approved Phase 4 24280-93-1 446541
30
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
31
Pancrelipase Approved, Investigational Phase 4 53608-75-6
32
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
33
Basiliximab Approved, Investigational Phase 4 152923-56-3, 179045-86-4
34
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 4 53-43-0 9860744
35
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 11103-57-4, 68-26-8 9904001 445354
36
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
37
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
38
Adefovir Investigational Phase 4 106941-25-7
39 DHEA (Dehydroepiandrosterone) Phase 4
40 Ledipasvir, sofosbuvir drug combination Phase 4
41 Soy Bean Phase 4
42 Parenteral Nutrition Solutions Phase 4
43 Fat Emulsions, Intravenous Phase 4
44 Soybean oil, phospholipid emulsion Phase 4
45 retinol Phase 4
46 Retinol palmitate Phase 4
47 Estrogens Phase 4
48 Omega 3 Fatty Acid Phase 4
49 Interferon alpha-2 Phase 4
50 Central Nervous System Depressants Phase 4

Interventional clinical trials:

(show top 50) (show all 1087)
# Name Status NCT ID Phase Drugs
1 A Phase 4, Open-Label Study to Investigate the Efficacy and Safety of Ledipasvir/Sofosbuvir Fixed-Dose Combination for 12 Weeks in Subjects With Chronic Genotype 1 and 4 HCV Infection With Autoimmune Disease Unknown status NCT02691728 Phase 4 LDV/SOF FDC
2 Efficacy and Adverse Effect of Simvastatin Compare to Rosuvastatin in SLE Patients With Corticosteroid Therapy and High LDL Cholesterol Level Unknown status NCT00866229 Phase 4 Rosuvastatin;Simvastatin
3 Calcitriol in the Treatment of Immunoglobulin A Nephropathy Unknown status NCT00862693 Phase 4 Calcitriol
4 A Phase IV, Single-site, Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum Unknown status NCT02199925 Phase 4 Gammaplex 5%
5 Sex Steroids in Sjögren's Syndrome: Effect of Substitution Treatment on Fatigue Unknown status NCT00543166 Phase 4 dehydroepiandrosterone
6 Immune Intervention With Anti-CD20 Monoclonal Antibody to Preserve Beta Cell Function in Early Onset Type 1 Diabetes Unknown status NCT01280682 Phase 4 rituximab
7 Phase 4 Study of the Efficacy of Intralipid Treatment in Patients With Recurrent Implantation Failure and Miscarriages With High Peripheral and Uterine Natural Killer Cells Unknown status NCT01679561 Phase 4 intralipid
8 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
9 Open Label Study of Prednisone and Azithromycin in the Treatment of Patients With Cat Scratch Disease Unknown status NCT01469702 Phase 4 prednison and azithromycin;prednison, azithromycin;prednison, Azenil
10 The Impact of Vitamin A Supplementation on Gene Expression of Cytokine Secreted by CD4+ T Lymphocyte in Multiple Sclerosis Patients Unknown status NCT01407211 Phase 4
11 Evaluation of Vaccination Against Influenza (Seasonal and H1N1) in Patients Presenting Systemic or Autoimmune Diseases Treated or Not With Steroids, and/or Immunosuppressant, and/or Biotherapy: an Open, Prospective Trial (MAIVAX) Completed NCT01065285 Phase 4
12 A Pilot Study of Mitoxantrone for the Treatment of Recurrent Neuromyelitis Optica (Devic’s Disease) Completed NCT00304291 Phase 4 Mitoxantrone
13 Study Evaluating Rapid Infusion Rituximab in Patients With Autoimmune Diseases Completed NCT02040116 Phase 4 Rituximab Infusion
14 Influence of Plasma Exchange Therapy on the Pharmacokinetics of Rituximab in Patients Treated for Autoimmune Disorders. Completed NCT00820469 Phase 4 Rituximab 375;rituximab 1000
15 Immune Response After Human Papillomavirus Vaccination in Patients With Autoimmune Disease Completed NCT00815282 Phase 4
16 A Phase 4, Multi-Center, Randomized, Open-Label Study to Evaluate the Effect of BENLYSTA™ (Belimumab; HGS1006) on Vaccine Responses in Subjects With Systemic Lupus Erythematosus (SLE) Completed NCT01597492 Phase 4
17 Prospective, Randomized, Double Blind Placebo Controled Clinical Trial to Assess the Multi- Systemic Effect of Vitamin D Supplementation on Young Men With Vitamin D Deficiency Completed NCT01016184 Phase 4
18 Open Label Study of Hydroxychloroquine for Alopecia Areata, Alopecia Totalis Completed NCT00176982 Phase 4 Hydroxychloroquine
19 A Multi-center, Randomized, Double, Placebo-controlled, Parallel Group Study of Improving Heart Function and Immunoregulation Effects of Qiliqiangxin Capsule in Patients With Dilated Cardiomyopathy Completed NCT01293903 Phase 4 Qiliqiangxin capsule;Placebo
20 Multicenter Randomized Clinical Trial in Patients With Juvenile Idiopathic Arthritis: Safety and Efficacy of Vaccination With Live Attenuated Measles, Mumps, Rubella Vaccine Completed NCT00731965 Phase 4
21 Use of Vitamin D in Treatment of Non-Alcoholic Fatty Liver Disease Detected by Transient Elastography Completed NCT04038853 Phase 4 1,25-Dihydroxyvitamin D;Placebo
22 The Effect of Insulin Degludec on Risk of Symptomatic Nocturnal Hypoglycaemia in Subjects With Type 1 Diabetes and High Risk of Nocturnal Severe Hypoglycaemia Completed NCT02192450 Phase 4 Insulin aspart/glargine;Insulin aspart/degludec
23 Effect of Ergocalciferol Repletion on Urine Calcium Among Stone Formers With Vitamin D Deficiency and Hypercalciuria Completed NCT01295879 Phase 4 Ergocalciferol
24 Chung Shan Medical University Hospital, Taiwan Completed NCT00647517 Phase 4 Ultracet
25 Phenotypic and Genetic Correlates of Diabetes (Non-Type 1) in Young Non-Obese Asian Indians in North India and A Study to Evaluate the Efficacy of Sitagliptin (DPP-4 Inhibitor) in a Sub-group of the Study Population Completed NCT00964184 Phase 4 Metformin
26 Pneumococcal Vaccination of Crohn Patients - A Randomized, Non-blinded Phase 4 Clinical Trial With the Purpose of Investigating the Immune Response Against Two Different Pneumococcal Vaccines in Patients With Crohn's Disease Completed NCT01947010 Phase 4
27 Comparison of Two Standard High-dose Treatment Regimens for Vitamin D Deficiency in Minority Adolescents: Associations of Vitamin D Repletion With Changes in Markers of Musculoskeletal, Cardiometabolic, and Immune Function Completed NCT01784029 Phase 4 Vitamin D3
28 A Placebo Controlled Trial of Amoxicillin for Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infections Completed NCT00001658 Phase 4 Amoxicillin
29 An Open Label Case Series on the Effects of Xolair (Omalizumab) in Bullous Pemphigoid Completed NCT00472030 Phase 4 Omalizumab;prednisone
30 EFFECTS OF A DIET RICH IN N-3 POLYUNSATURATED FATTY ACIDS ON SYSTEMIC INFLAMMATION IN RENAL TRANSPLANT RECIPIENTS Completed NCT01872455 Phase 4
31 SWITCH OR ADD PEGYLATED-INTERFERON IN CHRONIC HEPATITIS B PATIENTS ON LONG TERM NUCLEOS(T)IDE THERAPY (SWAP TRIAL) Completed NCT01928511 Phase 4 peg-interferon alpha 2b, 1.5mcg/kg s/c given weekly;Nucleos(t)ide analogue therapy
32 Treatment of Childhood Regressive Autism With Minocycline: an Anti-Inflammatory Agent Active Within the CNS Completed NCT00409747 Phase 4 Minocycline
33 Is Dietary Melatonin Supplementation a Viable Adjunctive Therapy for Chronic Periodontitis? A Preliminary Randomized Clinical Trial. Completed NCT03368430 Phase 4 Placebo
34 Effect Of Hormone Replacement Therapy On Disease Activity, Menopausal Symptoms And Bone Mineral Density In Peri/Postmenopausal Women With Systemic Lupus Erythematosus.Randomized Clinical Trial Completed NCT00392093 Phase 4 Conjugated equine estrogens 0.625 mg/d + MPA 5 mg/d/10d
35 Rituximab (RTX) Therapy in Steroid Resistant Patients or Patients Relapsing After Intravenous Steroids With Active TAO Recruiting NCT02378298 Phase 4 Rituximab;Iv Methylprednisolone;peroral methylprednisolone and Methotrexate
36 Alemtuzumab in Autoimmune Inflammatory Neurodegeneration: Mechanisms of Action and Neuroprotective Potential Recruiting NCT02419378 Phase 4 Alemtuzumab
37 Relevance of Monitoring Blood Levels Compared to Salivar Levels of Drugs Used in Rheumatic Autoimmune Diseases: Adherence and Understanding the Possible Underlying Mechanisms Involved in Effectiveness and in Adverse Effects Recruiting NCT03122431 Phase 4 Thalidomide;Hydroxychloroquine reduced;Hydroxychloroquine high
38 Tacrolimus Treatment for Refractory Pure Red Cell Aplasia, a Prospective Study Recruiting NCT03540472 Phase 4 tacrolimus
39 Sirolimus Treatment for Refractory Pure Red Cell Aplasia, a Prospective Study Recruiting NCT03364764 Phase 4 Sirolimus
40 A Randomized, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Artesunate Plus Standard of Care in Active Lupus Nephritis: Pilot Study Recruiting NCT03214731 Phase 4 Artesunate
41 Hydroxychloroquine Sulfate Alleviates Persistent Proteinuria in IgA Nephropathy:a Single Center Prospective Randomized Controlled Study Recruiting NCT02765594 Phase 4 Hydroxychloroquine Sulfate;Valsartan
42 Stopping Tumor Necrosis Factor-Alpha Inhibitors in Rheumatoid Arthritis (STARA) Clinical Trial Recruiting NCT01793519 Phase 4 Etanercept;Infliximab;Adalimumab;Placebo
43 A Multi-site, Open-Label, Pilot Study to Evaluate the Benefit of Octagam 5%® in Subjects With Pediatric Acute-onset Neuropsychiatric Syndrome (PANS) Active, not recruiting NCT03348618 Phase 4
44 Investigating Indirect Mechanism of Neuroprotection of Tecfidera® (Dimethyl Fumarate) in RRMS and Progressive Patients Active, not recruiting NCT03092544 Phase 4 dimethyl fumarate
45 Combined Pneumococcal Conjugate and Polysaccharide Vaccination in Inflammatory Rheumatic Disease. Impact of Antirheumatic Treatment on Antibody Response. Active, not recruiting NCT03762824 Phase 4
46 Lactoferrin or Progesterone for Prevention of Preterm Delivery Active, not recruiting NCT02372942 Phase 4 Lattoferrin;Progesterone
47 Patient-Reported AutoImmunity Secondary to Cancer immunothErapy Not yet recruiting NCT03849131 Phase 4
48 Double-Blind, Randomized, Placebo-Controlled Trial of Naproxen Sodium for the Treatment of Obsessive Compulsive Symptoms in Pediatric Autoimmune Neuropsychiatric Disorder Associated With Streptococcal Infections (PANDAS) Not yet recruiting NCT04015596 Phase 4 Naproxen Sodium
49 Silymarin® - Efficacy in Treatment of Non-alcoholic Fatty Liver Disease (NAFLD) Controlled by Laboratory and and Elastographic Parameters Not yet recruiting NCT02973295 Phase 4 Silymarin
50 Pilot Trial of Belimumab in Early Lupus Not yet recruiting NCT03543839 Phase 4

Search 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 72 / NDF-RT 51 :


Methylprednisolone
methylprednisolone acetate
Methylprednisolone Sodium Succinate
Prednisone
PREDNISONE PWDR

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, Liver, Bone, Skin, 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 30109)
# Title Authors PMID Year
1
A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. 8 71
16276422 2005
2
Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome. 71
11313270 2001
3
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. 71
11133745 2001
4
N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains. 71
11121059 2000
5
Partial V(D)J recombination activity leads to Omenn syndrome. 71
9630231 1998
6
A biochemical and genetic study on all non-synonymous single nucleotide polymorphisms of the gene encoding human deoxyribonuclease I potentially relevant to autoimmunity. 9 38
20417303 2010
7
Flow cytometry study of blood cell subtypes reflects autoimmune and inflammatory processes in autoimmune polyendocrine syndrome type I. 9 38
20500699 2010
8
Antigen-specific CD25- Foxp3- IFN-gamma(high) CD4+ T cells restrain the development of experimental allergic encephalomyelitis by suppressing Th17. 9 38
20382706 2010
9
The Toll-like receptor 4 ligands Mrp8 and Mrp14 are crucial in the development of autoreactive CD8+ T cells. 9 38
20473308 2010
10
A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility. 9 38
20453841 2010
11
ZAP70: a master regulator of adaptive immunity. 9 38
20135127 2010
12
Genetics of thyroid autoimmunity and the role of the TSHR. 9 38
20083159 2010
13
Lymphoid tyrosine phosphatase and autoimmunity: human genetics rediscovers tyrosine phosphatases. 9 38
20204370 2010
14
Diverse targets of the transcription factor STAT3 contribute to T cell pathogenicity and homeostasis. 9 38
20493732 2010
15
Toll-like receptor 2 signaling in CD4(+) T lymphocytes promotes T helper 17 responses and regulates the pathogenesis of autoimmune disease. 9 38
20434372 2010
16
FcgammaRIIB in autoimmunity and infection: evolutionary and therapeutic implications. 9 38
20414206 2010
17
Narcolepsy: autoimmunity, effector T cell activation due to infection, or T cell independent, major histocompatibility complex class II induced neuronal loss? 9 38
20403960 2010
18
Pathogenesis of thyroid-associated ophthalmopathy: does autoimmunity against calsequestrin and collagen XIII play a role? 9 38
20505833 2010
19
Autoimmune polyglandular syndromes. 9 38
20309000 2010
20
Characterization of CD4+ T cells specific for glutamic acid decarboxylase (GAD65) and proinsulin in a patient with stiff-person syndrome but without type 1 diabetes. 9 38
20503259 2010
21
TNF activates a NF-kappaB-regulated cellular program in human CD45RA- regulatory T cells that modulates their suppressive function. 9 38
20181891 2010
22
Recent advances on the immunomodulatory effects of IFN-alpha: implications for cancer immunotherapy and autoimmunity. 9 38
20187707 2010
23
Glucose intolerance and diabetes following antigen-specific insulitis in diabetes-susceptible "humanized" transgenic mice. 9 38
20350527 2010
24
Age-dependent decreases in DNA methyltransferase levels and low transmethylation micronutrient levels synergize to promote overexpression of genes implicated in autoimmunity and acute coronary syndromes. 9 38
20035856 2010
25
Cleavage of transaldolase by granzyme B causes the loss of enzymatic activity with retention of antigenicity for multiple sclerosis patients. 9 38
20194725 2010
26
Granzyme B cleavage of autoantigens in autoimmunity. 9 38
20075942 2010
27
Gene modulation and immunoregulatory roles of interferon gamma. 9 38
20036577 2010
28
Involvement of CD91 and scavenger receptors in Hsp70-facilitated activation of human antigen-specific CD4+ memory T cells. 9 38
20101615 2010
29
Cbl-b and itch: key regulators of peripheral T-cell tolerance. 9 38
20395198 2010
30
Regulation of interleukin-10 gene expression in macrophages engulfing apoptotic cells. 9 38
20187777 2010
31
Six months of diazoxide treatment at bedtime in newly diagnosed subjects with type 1 diabetes does not influence parameters of {beta}-cell function and autoimmunity but improves glycemic control. 9 38
20028939 2010
32
CD154 expression triggered by purine analogues in vitro: Correlation with treatment response and autoimmune events in chronic lymphocytic leukemia. 9 38
20026377 2010
33
Autoimmunity by anti-tumour necrosis factor-alpha agents: the role of traditional therapies. 9 38
19686257 2010
34
Pathogenesis of thyroid eye disease--does autoimmunity against the TSH receptor explain all cases? 9 38
20464711 2010
35
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Variations for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion,...

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

6 (show all 12)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
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 11:36597375-36597375 11:36575825-36575825
4 RAG1 NM_000448.2(RAG1): c.2942A> C (p.Gln981Pro) single nucleotide variant Pathogenic rs104894288 11:36597796-36597796 11:36576246-36576246
5 RAG1 NM_000448.2(RAG1): c.424C> T (p.Arg142Ter) single nucleotide variant Pathogenic 11:36595278-36595278 11:36573728-36573728
6 RAG1 NM_000448.2(RAG1): c.1303A> G (p.Met435Val) single nucleotide variant Pathogenic/Likely pathogenic rs141524540 11:36596157-36596157 11:36574607-36574607
7 RAG1 NM_000448.2(RAG1): c.2348C> G (p.Ser783Ter) single nucleotide variant Pathogenic/Likely pathogenic 11:36597202-36597202 11:36575652-36575652
8 CEL NM_001807.5(CEL): c.1966G> C (p.Ala656Pro) single nucleotide variant Uncertain significance rs587780309 9:135946855-135946855 9:133071468-133071468
9 RAG1 NM_000448.2(RAG1): c.1064T> C (p.Met355Thr) single nucleotide variant Uncertain significance 11:36595918-36595918 11:36574368-36574368
10 RAG1 NM_000448.2(RAG1): c.549G> A (p.Met183Ile) single nucleotide variant Uncertain significance 11:36595403-36595403 11:36573853-36573853
11 RAG1 NM_000448.2(RAG1): c.1213A> G (p.Arg405Gly) single nucleotide variant no interpretation for the single variant 11:36596067-36596067 11:36574517-36574517
12 RAG1 NM_000448.2(RAG1): c.1871G> A (p.Arg624His) single nucleotide variant not provided rs199474680 11:36596725-36596725 11:36575175-36575175

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

74
# Symbol AA change Variation ID SNP ID
1 RAG1 p.Arg841Trp VAR_025985 rs104894287
2 RAG1 p.Gln981Pro VAR_025988 rs104894288

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 IL17A IL10 IFNG FOXP3
2
Show member pathways
12.27 IL17A IL10 IFNG CTLA4
3
Show member pathways
12.18 TSHR TPO TNFSF13B TG INS IL17A
4 12.07 TNFSF13B RAG1 PTPN22 IL17A IL10 IFNG
5
Show member pathways
11.88 RAG1 INS IL10
6
Show member pathways
11.86 TNFSF13B IL17A IL10 IFNG
7
Show member pathways
11.85 IL17A IL10 IFNG
8 11.54 IL17A IL10 IFNG
9 11.53 TNFSF13B IL17A IFNG CTLA4
10
Show member pathways
11.46 IFNG FOXP3 CTLA4
11 11.4 IL17A IL10 IFNG
12 11.16 IL10 IFNG FOXP3
13
Show member pathways
10.92 GAD2 GAD1
14
Show member pathways
10.79 GAD2 GAD1
15 10.75 GAD2 GAD1
16
Show member pathways
10.61 GAD2 GAD1
17 10.52 GAD2 GAD1
18 10.11 TSHR TPO TG

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 TPO TNFSF13B INS IL17A IL10 IFNG
2 inhibitory synapse GO:0060077 8.96 GAD2 GAD1
3 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane GO:0061202 8.62 GAD2 GAD1

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 response to drug GO:0042493 9.7 IL10 GAD2 GAD1
2 B cell homeostasis GO:0001782 9.58 TNFSF13B FOXP3
3 B cell differentiation GO:0030183 9.58 TSHR RAG1 IL10
4 positive regulation of osteoclast differentiation GO:0045672 9.57 IL17A IFNG
5 carboxylic acid metabolic process GO:0019752 9.56 GAD2 GAD1
6 positive regulation of macrophage activation GO:0043032 9.55 IL10 HSPD1
7 negative regulation of B cell proliferation GO:0030889 9.54 IL10 CTLA4
8 neurotransmitter biosynthetic process GO:0042136 9.51 GAD2 GAD1
9 negative regulation of tumor necrosis factor production GO:0032720 9.5 PTPN22 IL10 FOXP3
10 negative regulation of immune response GO:0050777 9.49 FOXP3 CTLA4
11 negative regulation of interleukin-17 production GO:0032700 9.46 IFNG FOXP3
12 hormone biosynthetic process GO:0042446 9.43 TPO TG
13 negative regulation of T cell proliferation GO:0042130 9.43 IL10 FOXP3 CTLA4
14 positive regulation of interleukin-23 production GO:0032747 9.37 IL17A IFNG
15 negative regulation of reactive oxygen species biosynthetic process GO:1903427 9.18 INS
16 immune response GO:0006955 9.17 TNFSF13B RAG1 IL17A IL10 IFNG CTLA4
17 glutamate decarboxylation to succinate GO:0006540 9.16 GAD2 GAD1
18 regulation of regulatory T cell differentiation GO:0045589 9.13 IFNG FOXP3 CTLA4

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 TNFSF13B IL17A IL10 IFNG
2 glutamate binding GO:0016595 9.16 GAD2 GAD1
3 glutamate decarboxylase activity GO:0004351 8.62 GAD2 GAD1
4 protein binding GO:0005515 10.1 TSHR TNFSF13B RAG1 PTPN22 INS IL17A

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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