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 56 52 29 13 6 39
Combined Immunodeficiency with Expansion of Gamma Delta T Cells 52 58
Combined Immunodeficiency Due to Partial Rag1 Deficiency 52 58
Cid with Expansion of Gamma Delta T Cells 52 58
Cid Due to Partial Rag1 Deficiency 52 58
Alpha/beta T-Cell Lymphopenia, with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection and Autoimmunity 73
Autoimmune Diseases 71
Autoimmune State 71
Autoimmunity 43
T-Cmva 73

Characteristics:

Orphanet epidemiological data:

58
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: 58  
Rare immunological diseases


External Ids:

OMIM 56 609889
ICD10 via Orphanet 33 D81.8
UMLS via Orphanet 72 C1835931
Orphanet 58 ORPHA231154
MedGen 41 C1835931
UMLS 71 C0004364 C0004368

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

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 231154 Definition Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia. Epidemiology Prevalence is unknown. To date, 9 cases have been reported. Clinical description Patients present before the age of one year with severe disseminated CMV infection, which can manifest with fever and splenomegaly, and recurrent and severe co-infections including sepsis and pneumonitis. Autoimmune cytopenia also occurs and can include autoimmune hemolytic anemia (see these terms) or neutropenia. Etiology SCID due to partial RAG1 deficiency is caused by hypomorphic mutation in the RAG1 gene (11p13). This results in oligoclonal expansion of T cell receptor (TCR) gamma-delta T cells and TCR alpha-beta T cell lymphopenia, although total lymphocyte counts are normal, in combination with CMV infection and autoimmunity. Diagnostic methods Diagnosis is based on clinical evaluation, immunological investigation, including lymphocyte subset phenotyping, lymphocyte proliferation to mitogen stimulation, immunoglobulin levels and antibody response to vaccine antigens, and genetic confirmation. Differential diagnosis Differential diagnoses include other combined immunodeficiencies. Antenatal diagnosis Prenatal diagnosis can be performed in families where there is a family history and in which the genetic mutation has been identified. Genetic counseling Transmission is autosomal recessive . Management and treatment Treatment involves antiviral treatment and management of recurrent infections. Bone marrow transplant has been attempted but may result in graft versus host disease (GVHD; see this term) associated with reactivation of CMV disease. Patients should be treated in centers with experience of transplanting complex primary immunodeficiencies. Prognosis The majority of patients reported to date have died within the first few years of life. Visit the Orphanet disease page for more resources.

MalaCards based summary : Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity, also known as combined immunodeficiency with expansion of gamma delta t cells, 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 T cell receptor signaling pathway and Th17 cell differentiation. 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 sepsis

UniProtKB/Swiss-Prot : 73 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.

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 2843)
# Related Disease Score Top Affiliating Genes
1 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 34.4 GAD2 GAD1 AIRE
2 autoimmune addison disease 34.3 CTLA4 AIRE
3 anemia, autoimmune hemolytic 33.8 TNFSF13B FOXP3 CTLA4
4 systemic autoimmune disease 33.7 IL17A AIRE
5 vitiligo-associated multiple autoimmune disease susceptibility 1 33.7 TPO TG PTPN22 CTLA4 AIRE
6 autoimmune enteropathy 33.5 IL17A FOXP3
7 autoimmune disease of urogenital tract 33.4 IL17A IL10 CTLA4
8 autoimmune polyendocrine syndrome type 1 33.4 IL17A FOXP3 AIRE
9 autoimmune polyendocrine syndrome, type ii 33.3 PTPN22 INS GAD2 GAD1 AIRE
10 autoimmune uveitis 33.3 IL17A IL10 IFNG
11 autoimmune lymphoproliferative syndrome 33.2 IL10 FOXP3 CTLA4 AIRE
12 hashimoto encephalopathy 33.2 TSHR TPO
13 autoimmune hepatitis 33.0 TPO IL10 FOXP3 CTLA4 AIRE
14 autoimmune disease of cardiovascular system 32.9 FOXP3 CTLA4
15 hypoadrenocorticism, familial 32.8 TPO TG PTPN22 CTLA4 AIRE
16 autoimmune gastritis 32.7 IL10 IFNG FOXP3
17 autoimmune pancreatitis 32.5 TNFSF13B IL17A IL10 FOXP3 CTLA4
18 autoimmune disease of eyes, ear, nose and throat 32.5 IL17A IL10 FOXP3 CTLA4
19 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 32.5 IL17A IL10 FOXP3 CTLA4 AIRE
20 autoimmune disease of blood 32.4 TNFSF13B IL10 FOXP3 CTLA4
21 limbic encephalitis 32.4 TPO GAD2 GAD1
22 graves disease 1 32.2 TSHR TPO TG INS
23 stiff-person syndrome 32.2 INS GAD2 GAD1
24 granulomatosis with polyangiitis 32.1 TNFSF13B PTPN22 IL17A CTLA4
25 autoimmune disease of central nervous system 32.1 IL17A IL10 IFNG FOXP3 CTLA4
26 juvenile rheumatoid arthritis 32.0 IL10 IFNG CTLA4
27 lupus erythematosus 32.0 PTPN22 IL10 IFNG CTLA4
28 mixed connective tissue disease 31.9 TNFSF13B IL10 IFNG
29 pernicious anemia 31.9 TPO TG PTPN22 GAD2 AIRE
30 lichen planus 31.8 IL17A IL10 IFNG
31 vogt-koyanagi-harada disease 31.8 PTPN22 IL17A IL10 IFNG
32 relapsing polychondritis 31.8 IL17A IL10 IFNG
33 myasthenia gravis 31.8 TNFSF13B PTPN22 IL10 IFNG CTLA4 AIRE
34 polyendocrinopathy 31.8 FOXP3 AIRE
35 myxedema 31.7 TSHR TPO TG CTLA4
36 collagen disease 31.7 TNFSF13B IL17A IL10
37 chronic inflammatory demyelinating polyradiculoneuropathy 31.7 IL17A IL10 IFNG
38 cryoglobulinemia 31.6 TNFSF13B IL10 IFNG
39 diabetes mellitus, ketosis-prone 31.5 PTPRN INS GAD2 GAD1 CTLA4
40 reactive arthritis 31.5 IL17A IL10 IFNG
41 cutaneous lupus erythematosus 31.4 TNFSF13B IL17A IL10 IFNG
42 graves' disease 31.4 TSHR TPO TG PTPN22 IFNG GAD2
43 systemic scleroderma 31.4 TPO TNFSF13B INS IL17A IFNG
44 hyperthyroidism 31.3 TSHR TPO TG INS CTLA4
45 cholangitis 31.3 IL17A IL10 CTLA4
46 autoimmune disease of musculoskeletal system 31.2 TNFSF13B PTPN22 IL17A IL10 IFNG FOXP3
47 psoriasis 31.2 PTPN22 IL17A IL10 IFNG CTLA4
48 psoriatic arthritis 31.2 PTPN22 IL17A IL10 IFNG CTLA4
49 maturity-onset diabetes of the young 31.2 PTPRN INS GAD2 GAD1
50 alopecia 31.1 IFNG CTLA4 AIRE

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:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
2 sepsis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100806
3 decrease in t cell count 58 31 hallmark (90%) Very frequent (99-80%) HP:0005403
4 b lymphocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0010976
5 severe combined immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0004430
6 interstitial pneumonitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0006515
7 autoimmune hemolytic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001890
8 neutropenia in presence of anti-neutropil antibodies 58 31 frequent (33%) Frequent (79-30%) HP:0001904
9 immunodeficiency 58 Very frequent (99-80%)
10 autoimmunity 58 Occasional (29-5%)

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:

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.41 AIRE CTLA4 FOXP3 GAD1 GAD2 IFNG
2 homeostasis/metabolism MP:0005376 10.37 AIRE CTLA4 FOXP3 GAD1 GAD2 IFNG
3 immune system MP:0005387 10.35 AIRE CTLA4 FOXP3 GAD2 IFNG IL10
4 growth/size/body region MP:0005378 10.34 AIRE FOXP3 GAD1 GAD2 IFNG IL10
5 digestive/alimentary MP:0005381 10.33 AIRE CTLA4 FOXP3 GAD1 GAD2 IFNG
6 hematopoietic system MP:0005397 10.32 AIRE CTLA4 FOXP3 IFNG IL10 IL17A
7 behavior/neurological MP:0005386 10.27 AIRE FOXP3 GAD1 GAD2 IFNG IL10
8 mortality/aging MP:0010768 10.18 AIRE CTLA4 FOXP3 GAD1 GAD2 IFNG
9 craniofacial MP:0005382 10.1 FOXP3 GAD1 GAD2 IFNG IL10 IL17A
10 integument MP:0010771 10.06 CTLA4 FOXP3 IFNG IL10 IL17A INS
11 liver/biliary system MP:0005370 10.01 AIRE CTLA4 FOXP3 IFNG IL10 INS
12 no phenotypic analysis MP:0003012 9.92 AIRE FOXP3 GAD1 GAD2 IFNG IL10
13 limbs/digits/tail MP:0005371 9.91 FOXP3 GAD1 IL10 TG TPO TSHR
14 normal MP:0002873 9.91 AIRE CTLA4 FOXP3 GAD1 GAD2 IFNG
15 respiratory system MP:0005388 9.85 AIRE CTLA4 FOXP3 GAD1 GAD2 IFNG
16 skeleton MP:0005390 9.65 CTLA4 GAD1 IFNG IL10 IL17A INS
17 vision/eye MP:0005391 9.28 AIRE FOXP3 GAD2 IFNG IL10 INS

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 571)
# 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
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
6
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 11128-99-7, 4474-91-3 172198
7
Azathioprine Approved Phase 4 446-86-6 2265
8
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
9
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
10
Insulin aspart Approved Phase 4 116094-23-6 16132418
11
Insulin glargine Approved Phase 4 160337-95-1
12
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
13
Aceclofenac Approved, Investigational Phase 4 89796-99-6
14
Metformin Approved Phase 4 657-24-9 4091 14219
15
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
16
Omalizumab Approved, Investigational Phase 4 242138-07-4
17 Orange Approved Phase 4
18 Strawberry Approved Phase 4
19 Artichoke Approved Phase 4
20
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
21
Minocycline Approved, Investigational Phase 4 10118-90-8 5281021
22
Adalimumab Approved Phase 4 331731-18-1 16219006
23
Infliximab Approved Phase 4 170277-31-3
24
Etanercept Approved, Investigational Phase 4 185243-69-0
25
Artesunate Approved, Investigational Phase 4 88495-63-0 5464098 6917864
26
Dimethyl fumarate Approved, Investigational Phase 4 624-49-7 5271565 637568
27
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
28
belimumab Approved Phase 4 356547-88-1 10451420 5957
29
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
30
Aldesleukin Approved Phase 4 85898-30-2, 110942-02-4
31
Mycophenolic acid Approved Phase 4 24280-93-1 446541
32
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
33
Pancrelipase Approved, Investigational Phase 4 53608-75-6
34
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
35
Basiliximab Approved, Investigational Phase 4 152923-56-3, 179045-86-4
36
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 4 53-43-0 9860744
37
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 11103-57-4, 68-26-8 9904001 445354
38
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
39
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
40
Adefovir Investigational Phase 4 106941-25-7
41 DHEA (Dehydroepiandrosterone) Phase 4
42 Ledipasvir, sofosbuvir drug combination Phase 4
43 Soy Bean Phase 4
44 Parenteral Nutrition Solutions Phase 4
45 Fat Emulsions, Intravenous Phase 4
46 Soybean oil, phospholipid emulsion Phase 4
47 Angiotensin Receptor Antagonists Phase 4
48 Angiotensin II Type 1 Receptor Blockers Phase 4
49 Angiotensinogen Phase 4
50 Giapreza Phase 4

Interventional clinical trials:

(show top 50) (show all 1121)
# 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 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
7 Immune Intervention With Anti-CD20 Monoclonal Antibody to Preserve Beta Cell Function in Early Onset Type 1 Diabetes Unknown status NCT01280682 Phase 4 rituximab
8 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
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 Hydroxychloroquine Sulfate Alleviates Persistent Proteinuria in IgA Nephropathy:a Single Center Prospective Randomized Controlled Study Unknown status NCT02765594 Phase 4 Hydroxychloroquine Sulfate;Valsartan
11 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
12 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
13 A Pilot Study of Mitoxantrone for the Treatment of Recurrent Neuromyelitis Optica (Devic’s Disease) Completed NCT00304291 Phase 4 Mitoxantrone
14 Study Evaluating Rapid Infusion Rituximab in Patients With Autoimmune Diseases Completed NCT02040116 Phase 4 Rituximab Infusion
15 Influence of Plasma Exchange Therapy on the Pharmacokinetics of Rituximab in Patients Treated for Autoimmune Disorders. Completed NCT00820469 Phase 4 Rituximab 375;rituximab 1000
16 Immune Response After Human Papillomavirus Vaccination in Patients With Autoimmune Disease Completed NCT00815282 Phase 4
17 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
18 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
19 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
20 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
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 Effect of Ergocalciferol Repletion on Urine Calcium Among Stone Formers With Vitamin D Deficiency and Hypercalciuria Completed NCT01295879 Phase 4 Ergocalciferol
23 Open Label Study of Hydroxychloroquine for Alopecia Areata, Alopecia Totalis Completed NCT00176982 Phase 4 Hydroxychloroquine
24 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
25 Chung Shan Medical University Hospital, Taiwan Completed NCT00647517 Phase 4 Ultracet
26 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
27 A Placebo Controlled Trial of Amoxicillin for Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infections Completed NCT00001658 Phase 4 Amoxicillin
28 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
29 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
30 An Open Label Case Series on the Effects of Xolair (Omalizumab) in Bullous Pemphigoid Completed NCT00472030 Phase 4 Omalizumab;prednisone
31 EFFECTS OF A DIET RICH IN N-3 POLYUNSATURATED FATTY ACIDS ON SYSTEMIC INFLAMMATION IN RENAL TRANSPLANT RECIPIENTS Completed NCT01872455 Phase 4
32 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
33 Is Dietary Melatonin Supplementation a Viable Adjunctive Therapy for Chronic Periodontitis? A Preliminary Randomized Clinical Trial. Completed NCT03368430 Phase 4 Placebo
34 Treatment of Childhood Regressive Autism With Minocycline: an Anti-Inflammatory Agent Active Within the CNS Completed NCT00409747 Phase 4 Minocycline
35 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
36 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
37 Alemtuzumab in Autoimmune Inflammatory Neurodegeneration: Mechanisms of Action and Neuroprotective Potential Recruiting NCT02419378 Phase 4 Alemtuzumab
38 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
39 Effect of Hydroxychloroquine on Endothelial Function: a Clinical Trial Recruiting NCT04161339 Phase 4 Hydroxychloroquine;Placebo oral tablet
40 Tacrolimus Treatment for Refractory Pure Red Cell Aplasia, a Prospective Study Recruiting NCT03540472 Phase 4 tacrolimus
41 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
42 Silymarin® - Efficacy in Treatment of Non-alcoholic Fatty Liver Disease (NAFLD) Controlled by Laboratory and and Elastographic Parameters Recruiting NCT02973295 Phase 4 Silymarin
43 Sirolimus Treatment for Refractory Pure Red Cell Aplasia, a Prospective Study Recruiting NCT03364764 Phase 4 Sirolimus
44 Stopping Tumor Necrosis Factor-Alpha Inhibitors in Rheumatoid Arthritis (STARA) Clinical Trial Recruiting NCT01793519 Phase 4 Etanercept;Infliximab;Adalimumab;Placebo
45 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
46 Investigating Indirect Mechanism of Neuroprotection of Tecfidera® (Dimethyl Fumarate) in RRMS and Progressive Patients Active, not recruiting NCT03092544 Phase 4 dimethyl fumarate
47 Combined Pneumococcal Conjugate and Polysaccharide Vaccination in Inflammatory Rheumatic Disease. Impact of Antirheumatic Treatment on Antibody Response. Active, not recruiting NCT03762824 Phase 4
48 Lactoferrin or Progesterone for Prevention of Preterm Delivery Active, not recruiting NCT02372942 Phase 4 Lattoferrin;Progesterone
49 Patient-Reported AutoImmunity Secondary to Cancer immunothErapy Not yet recruiting NCT03849131 Phase 4
50 A Multicenter, Randomized Controlled Clinical Study About Efficacy and Safety of Standard Dose and Individualized Dose of Rituximab in Maintaining Remission in Patients With Moderate to Severe Systemic Lupus Erythematosus Not yet recruiting NCT04127747 Phase 4 Standard dose of rituximab;Individualized dose of rituximab

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 71 / NDF-RT 50 :


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:

40
T Cells, Thyroid, B Cells, Liver, Bone, Skin, 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 30125)
# Title Authors PMID Year
1
A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. 56 6
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. 6
11313270 2001
3
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. 6
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. 6
11121059 2000
5
Partial V(D)J recombination activity leads to Omenn syndrome. 6
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. 61 54
20417303 2010
7
A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility. 54 61
20453841 2010
8
ZAP70: a master regulator of adaptive immunity. 61 54
20135127 2010
9
Antigen-specific CD25- Foxp3- IFN-gamma(high) CD4+ T cells restrain the development of experimental allergic encephalomyelitis by suppressing Th17. 61 54
20382706 2010
10
The Toll-like receptor 4 ligands Mrp8 and Mrp14 are crucial in the development of autoreactive CD8+ T cells. 61 54
20473308 2010
11
Flow cytometry study of blood cell subtypes reflects autoimmune and inflammatory processes in autoimmune polyendocrine syndrome type I. 54 61
20500699 2010
12
Lymphoid tyrosine phosphatase and autoimmunity: human genetics rediscovers tyrosine phosphatases. 54 61
20204370 2010
13
Genetics of thyroid autoimmunity and the role of the TSHR. 61 54
20083159 2010
14
Autoimmune polyglandular syndromes. 54 61
20309000 2010
15
Toll-like receptor 2 signaling in CD4(+) T lymphocytes promotes T helper 17 responses and regulates the pathogenesis of autoimmune disease. 54 61
20434372 2010
16
Narcolepsy: autoimmunity, effector T cell activation due to infection, or T cell independent, major histocompatibility complex class II induced neuronal loss? 54 61
20403960 2010
17
Pathogenesis of thyroid-associated ophthalmopathy: does autoimmunity against calsequestrin and collagen XIII play a role? 54 61
20505833 2010
18
FcgammaRIIB in autoimmunity and infection: evolutionary and therapeutic implications. 61 54
20414206 2010
19
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. 61 54
20503259 2010
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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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RAG1 RAG1, 2-BP DEL, 368AAdeletion Pathogenic 13151
2 RAG1 RAG1, 1-BP DEL, 631Tdeletion Pathogenic 13153
3 RAG1 NM_000448.2(RAG1):c.2521C>T (p.Arg841Trp)SNV Pathogenic 13154 rs104894287 11:36597375-36597375 11:36575825-36575825
4 RAG1 NM_000448.2(RAG1):c.2942A>C (p.Gln981Pro)SNV Pathogenic 13155 rs104894288 11:36597796-36597796 11:36576246-36576246
5 RAG1 NM_000448.2(RAG1):c.424C>T (p.Arg142Ter)SNV Pathogenic 626157 rs773929270 11:36595278-36595278 11:36573728-36573728
6 RAG1 NM_000448.2(RAG1):c.1303A>G (p.Met435Val)SNV Pathogenic/Likely pathogenic 68680 rs141524540 11:36596157-36596157 11:36574607-36574607
7 RAG1 NM_000448.2(RAG1):c.2348C>G (p.Ser783Ter)SNV Pathogenic/Likely pathogenic 573434 11:36597202-36597202 11:36575652-36575652
8 CEL NM_001807.5(CEL):c.1966G>C (p.Ala656Pro)SNV Uncertain significance 128688 rs587780309 9:135946855-135946855 9:133071468-133071468
9 RAG1 NM_000448.2(RAG1):c.1064T>C (p.Met355Thr)SNV Uncertain significance 583401 11:36595918-36595918 11:36574368-36574368
10 RAG1 NM_000448.2(RAG1):c.549G>A (p.Met183Ile)SNV Uncertain significance 626003 rs750394886 11:36595403-36595403 11:36573853-36573853
11 RAG1 NM_000448.2(RAG1):c.1213A>G (p.Arg405Gly)SNV no interpretation for the single variant 624601 rs1564988958 11:36596067-36596067 11:36574517-36574517
12 RAG1 NM_000448.2(RAG1):c.1871G>A (p.Arg624His)SNV not provided 68687 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:

73
# 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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.37 IL17A IL10 IFNG CTLA4
2
Show member pathways
12.33 IL17A IL10 IFNG FOXP3
3
Show member pathways
12.18 TSHR TPO TNFSF13B TG PTPRN INS
4 12.07 TNFSF13B RAG1 PTPN22 IL17A IL10 IFNG
5
Show member pathways
11.84 IL17A IL10 IFNG
6 11.53 TNFSF13B IL17A IFNG CTLA4
7 11.51 IL17A IL10 IFNG
8
Show member pathways
11.46 IFNG FOXP3 CTLA4
9 11.4 IL17A IL10 IFNG
10 11.16 IL10 IFNG FOXP3
11
Show member pathways
10.79 GAD2 GAD1
12 10.74 GAD2 GAD1
13
Show member pathways
10.59 GAD2 GAD1
14 10.5 GAD2 GAD1
15 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 inhibitory synapse GO:0060077 8.96 GAD2 GAD1
2 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 14)
# Name GO ID Score Top Affiliating Genes
1 B cell differentiation GO:0030183 9.58 TSHR RAG1 IL10
2 carboxylic acid metabolic process GO:0019752 9.54 GAD2 GAD1
3 negative regulation of tumor necrosis factor production GO:0032720 9.54 PTPN22 IL10 FOXP3
4 negative regulation of B cell proliferation GO:0030889 9.52 IL10 CTLA4
5 negative regulation of immune response GO:0050777 9.51 FOXP3 CTLA4
6 neurotransmitter biosynthetic process GO:0042136 9.49 GAD2 GAD1
7 negative regulation of interleukin-17 production GO:0032700 9.48 IFNG FOXP3
8 hormone biosynthetic process GO:0042446 9.46 TPO TG
9 positive regulation of MHC class II biosynthetic process GO:0045348 9.43 IL10 IFNG
10 negative regulation of T cell proliferation GO:0042130 9.43 IL10 FOXP3 CTLA4
11 positive regulation of interleukin-23 production GO:0032747 9.32 IL17A IFNG
12 immune response GO:0006955 9.17 TNFSF13B RAG1 IL17A IL10 IFNG CTLA4
13 glutamate decarboxylation to succinate GO:0006540 9.16 GAD2 GAD1
14 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

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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