T-CMVA
MCID: ALP042
MIFTS: 66

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 Ledipasvir and Sofosbuvir 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 34.4 CTLA4 AIRE
3 vitiligo-associated multiple autoimmune disease susceptibility 1 34.0 TPO PTPN22 CTLA4 AIRE
4 anemia, autoimmune hemolytic 33.8 TNFSF13B FOXP3 CTLA4
5 systemic autoimmune disease 33.7 IL17A AIRE
6 autoimmune enteropathy 33.5 IL17A FOXP3
7 autoimmune disease of peripheral nervous system 33.4 TNFSF13B IL17A IL10
8 autoimmune polyendocrine syndrome type 1 33.4 IL17A FOXP3 AIRE
9 autoimmune uveitis 33.3 IL17A IL10 IFNG
10 autoimmune disease of exocrine system 33.3 TNFSF13B IL17A IL10
11 hashimoto encephalopathy 33.2 TSHR TPO
12 autoimmune hepatitis 33.1 TPO IL10 FOXP3 CTLA4 AIRE
13 autoimmune polyendocrine syndrome, type ii 33.1 TPO PTPN22 INS GAD2 GAD1 AIRE
14 autoimmune lymphoproliferative syndrome 33.0 RAG1 IL10 FOXP3 CTLA4 AIRE
15 hypoadrenocorticism, familial 32.8 TPO TG PTPN22 CTLA4 AIRE
16 autoimmune pancreatitis 32.6 TNFSF13B IL17A IL10 FOXP3 CTLA4
17 autoimmune disease of eyes, ear, nose and throat 32.5 IL17A IL10 FOXP3 CTLA4
18 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 32.5 IL17A IL10 FOXP3 CTLA4 AIRE
19 autoimmune disease of blood 32.5 TNFSF13B IL10 FOXP3 CTLA4
20 autoimmune gastritis 32.4 IL10 IFNG FOXP3 AIRE
21 limbic encephalitis 32.4 TPO GAD2 GAD1
22 vasculitis 32.2 TNFSF13B IL17A IL10 CTLA4
23 graves disease 1 32.2 TSHR TPO TG INS
24 stiff-person syndrome 32.2 INS GAD2 GAD1
25 cholangitis, primary sclerosing 32.1 IL17A IL10 AIRE
26 granulomatosis with polyangiitis 32.1 TNFSF13B PTPN22 IL17A CTLA4
27 autoimmune disease of central nervous system 32.1 IL17A IL10 IFNG FOXP3 CTLA4
28 lupus erythematosus 32.0 PTPN22 IL10 IFNG CTLA4
29 juvenile rheumatoid arthritis 32.0 IL10 IFNG CTLA4
30 mixed connective tissue disease 31.9 TNFSF13B IL10 IFNG
31 exanthem 31.9 IL10 IFNG CTLA4
32 lichen planus 31.9 IL17A IL10 IFNG
33 chronic inflammatory demyelinating polyradiculoneuropathy 31.8 IL17A IL10 IFNG
34 myasthenia gravis 31.8 TNFSF13B PTPN22 IL10 IFNG CTLA4 AIRE
35 vogt-koyanagi-harada disease 31.8 PTPN22 IL17A IL10 IFNG
36 relapsing polychondritis 31.8 IL17A IL10 IFNG
37 polyendocrinopathy 31.8 FOXP3 AIRE
38 myxedema 31.7 TSHR TPO TG CTLA4
39 thrombocytopenia due to platelet alloimmunization 31.7 TNFSF13B IL17A IL10 FOXP3
40 spinal cord disease 31.6 TNFSF13B IL17A IL10
41 hypoparathyroidism 31.6 TPO PTPN22 INS CTLA4 AIRE
42 pernicious anemia 31.6 TPO TG PTPRN PTPN22 GAD2 AIRE
43 diabetes mellitus, ketosis-prone 31.5 PTPRN INS GAD2 GAD1 CTLA4
44 dermatitis herpetiformis 31.5 IL17A IL10 FOXP3
45 reactive arthritis 31.5 IL17A IL10 IFNG
46 graves' disease 31.4 TSHR TPO TG PTPN22 IFNG GAD2
47 peritonitis 31.3 IL17A IL10 IFNG
48 hyperthyroidism 31.3 TSHR TPO TG INS CTLA4
49 cholangitis 31.3 IL17A IL10 CTLA4
50 autoimmune disease of musculoskeletal system 31.2 TNFSF13B PTPN22 IL17A IL10 IFNG FOXP3

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 severe combined immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0004430
4 interstitial pneumonitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0006515
5 b lymphocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0010976
6 decrease in t cell count 58 31 hallmark (90%) Very frequent (99-80%) HP:0005403
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 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.42 AIRE CTLA4 FOXP3 GAD1 GAD2 IFNG
2 homeostasis/metabolism MP:0005376 10.39 AIRE CTLA4 FOXP3 GAD1 GAD2 IFNG
3 immune system MP:0005387 10.37 AIRE CTLA4 FOXP3 GAD2 IFNG IL10
4 growth/size/body region MP:0005378 10.35 AIRE FOXP3 GAD1 GAD2 IFNG IL10
5 digestive/alimentary MP:0005381 10.34 AIRE CTLA4 FOXP3 GAD1 GAD2 IFNG
6 hematopoietic system MP:0005397 10.34 AIRE CTLA4 FOXP3 IFNG IL10 IL17A
7 behavior/neurological MP:0005386 10.32 AIRE FOXP3 GAD1 GAD2 IFNG IL10
8 mortality/aging MP:0010768 10.22 AIRE CTLA4 FOXP3 GAD1 GAD2 IFNG
9 craniofacial MP:0005382 10.11 FOXP3 GAD1 GAD2 IFNG IL10 IL17A
10 integument MP:0010771 10.08 CTLA4 FOXP3 IFNG IL10 IL17A INS
11 liver/biliary system MP:0005370 10.03 AIRE CTLA4 FOXP3 IFNG IL10 INS
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 limbs/digits/tail MP:0005371 9.93 FOXP3 GAD1 IL10 TG TPO TSHR
15 reproductive system MP:0005389 9.86 AIRE FOXP3 GAD2 IFNG IL10 INS
16 respiratory system MP:0005388 9.85 AIRE CTLA4 FOXP3 GAD1 GAD2 IFNG
17 skeleton MP:0005390 9.65 CTLA4 GAD1 IFNG IL10 IL17A INS
18 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 549)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ledipasvir Approved Phase 4 1256388-51-8 67505836
2
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
3
Simvastatin Approved Phase 4 79902-63-9 54454
4
Dimethyl fumarate Approved, Investigational Phase 4 624-49-7 5271565 637568
5
Azithromycin Approved Phase 4 83905-01-5 447043 55185
6
Angiotensin II Approved, Investigational Phase 4 4474-91-3, 11128-99-7, 68521-88-0 172198
7
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
8
Azathioprine Approved Phase 4 446-86-6 2265
9
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
10
Zinc Approved, Investigational Phase 4 7440-66-6 32051
11
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
12
Insulin aspart Approved Phase 4 116094-23-6 16132418
13
Insulin glargine Approved Phase 4 160337-95-1
14
Metformin Approved Phase 4 657-24-9 14219 4091
15
Aceclofenac Approved, Investigational Phase 4 89796-99-6
16
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
17
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
18
Omalizumab Approved, Investigational Phase 4 242138-07-4
19 Strawberry Approved Phase 4
20 Orange Approved Phase 4
21 Artichoke Approved Phase 4
22
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
23
Minocycline Approved, Investigational Phase 4 10118-90-8 5281021
24
Adalimumab Approved Phase 4 331731-18-1 16219006
25
Infliximab Approved Phase 4 170277-31-3
26
Etanercept Approved, Investigational Phase 4 185243-69-0
27
Artesunate Approved, Investigational Phase 4 88495-63-0 6917864 5464098
28
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
29
Hydroxychloroquine Approved Phase 4 118-42-3 3652
30
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
31
belimumab Approved Phase 4 356547-88-1 10451420 5957
32
Cephalexin Approved, Investigational, Vet_approved Phase 4 15686-71-2 27447
33
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
34
Povidone Approved Phase 4 9003-39-8
35
Aldesleukin Approved Phase 4 85898-30-2, 110942-02-4
36
Mycophenolic acid Approved Phase 4 24280-93-1 446541
37
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
38
Pancrelipase Approved, Investigational Phase 4 53608-75-6
39
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
40
Basiliximab Approved, Investigational Phase 4 152923-56-3, 179045-86-4
41
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 4 53-43-0 9860744
42
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 5280453 134070
43
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
44
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
45
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
46
Adefovir Investigational Phase 4 106941-25-7
47 DHEA (Dehydroepiandrosterone) Phase 4
48 Hypolipidemic Agents Phase 4
49 Lipid Regulating Agents Phase 4
50 Anticholesteremic Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 1193)
# 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 Alemtuzumab in Autoimmune Inflammatory Neurodegeneration: Mechanisms of Action and Neuroprotective Potential Unknown status NCT02419378 Phase 4 Alemtuzumab
3 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
4 Calcitriol in the Treatment of Immunoglobulin A Nephropathy Unknown status NCT00862693 Phase 4 Calcitriol
5 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%
6 Investigating Indirect Mechanism of Neuroprotection of Tecfidera® (Dimethyl Fumarate) in RRMS and Progressive Patients Unknown status NCT03092544 Phase 4 dimethyl fumarate
7 Sex Steroids in Sjögren's Syndrome: Effect of Substitution Treatment on Fatigue Unknown status NCT00543166 Phase 4 dehydroepiandrosterone
8 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
9 Tacrolimus Treatment for Refractory Pure Red Cell Aplasia, a Prospective Study Unknown status NCT03540472 Phase 4 tacrolimus
10 Sirolimus Treatment for Refractory Pure Red Cell Aplasia, a Prospective Study Unknown status NCT03364764 Phase 4 Sirolimus
11 Immune Intervention With Anti-CD20 Monoclonal Antibody to Preserve Beta Cell Function in Early Onset Type 1 Diabetes Unknown status NCT01280682 Phase 4 rituximab
12 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
13 Hydroxychloroquine Sulfate Alleviates Persistent Proteinuria in IgA Nephropathy:a Single Center Prospective Randomized Controlled Study Unknown status NCT02765594 Phase 4 Hydroxychloroquine Sulfate;Valsartan
14 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
15 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
16 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
17 A Pilot Study of Mitoxantrone for the Treatment of Recurrent Neuromyelitis Optica (Devic’s Disease) Completed NCT00304291 Phase 4 Mitoxantrone
18 Study Evaluating Rapid Infusion Rituximab in Patients With Autoimmune Diseases Completed NCT02040116 Phase 4 Rituximab Infusion
19 Influence of Plasma Exchange Therapy on the Pharmacokinetics of Rituximab in Patients Treated for Autoimmune Disorders. Completed NCT00820469 Phase 4 Rituximab 375;rituximab 1000
20 Immune Response After Human Papillomavirus Vaccination in Patients With Autoimmune Disease Completed NCT00815282 Phase 4
21 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
22 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
23 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
24 Effect of Ergocalciferol Repletion on Urine Calcium Among Stone Formers With Vitamin D Deficiency and Hypercalciuria Completed NCT01295879 Phase 4 Ergocalciferol
25 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
26 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
27 Open Label Study of Hydroxychloroquine for Alopecia Areata, Alopecia Totalis Completed NCT00176982 Phase 4 Hydroxychloroquine
28 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
29 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
30 Chung Shan Medical University Hospital, Taiwan Completed NCT00647517 Phase 4 Ultracet
31 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
32 A Placebo Controlled Trial of Amoxicillin for Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infections Completed NCT00001658 Phase 4 Amoxicillin
33 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
34 An Open Label Case Series on the Effects of Xolair (Omalizumab) in Bullous Pemphigoid Completed NCT00472030 Phase 4 Omalizumab;prednisone
35 EFFECTS OF A DIET RICH IN N-3 POLYUNSATURATED FATTY ACIDS ON SYSTEMIC INFLAMMATION IN RENAL TRANSPLANT RECIPIENTS Completed NCT01872455 Phase 4
36 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
37 Is Dietary Melatonin Supplementation a Viable Adjunctive Therapy for Chronic Periodontitis? A Preliminary Randomized Clinical Trial. Completed NCT03368430 Phase 4 Placebo
38 Treatment of Childhood Regressive Autism With Minocycline: an Anti-Inflammatory Agent Active Within the CNS Completed NCT00409747 Phase 4 Minocycline
39 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
40 Patient-Reported AutoImmunity Secondary to Cancer immunothErapy Recruiting NCT03849131 Phase 4
41 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
42 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
43 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 Recruiting NCT04127747 Phase 4 Standard dose of rituximab;Individualized dose of rituximab
44 Effect of Hydroxychloroquine on Endothelial Function: a Clinical Trial Recruiting NCT04161339 Phase 4 Hydroxychloroquine;Placebo oral tablet
45 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
46 Silymarin® - Efficacy in Treatment of Non-alcoholic Fatty Liver Disease (NAFLD) Controlled by Laboratory and and Elastographic Parameters Recruiting NCT02973295 Phase 4 Silymarin
47 Adalimumab Dose Reduction Aiming Low Serum Concentration With Control of Disease Activity: a Single Blind, Non-inferiority, Randomised Clinical Trial Recruiting NCT04222920 Phase 4 Adalimumab
48 Efficacy of Fractional CO2 Laser Alone and as Transepidermal Drug Delivery for Different Modalities of Treatment in Alopecia Areata Recruiting NCT04003376 Phase 4 Triamcinolone Acetonide 10mg/mL;vitamin D solution
49 Stopping Tumor Necrosis Factor-Alpha Inhibitors in Rheumatoid Arthritis (STARA) Clinical Trial Recruiting NCT01793519 Phase 4 Etanercept;Infliximab;Adalimumab;Placebo
50 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

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 30166)
# 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. 54 61
20417303 2010
7
Antigen-specific CD25- Foxp3- IFN-gamma(high) CD4+ T cells restrain the development of experimental allergic encephalomyelitis by suppressing Th17. 61 54
20382706 2010
8
The Toll-like receptor 4 ligands Mrp8 and Mrp14 are crucial in the development of autoreactive CD8+ T cells. 61 54
20473308 2010
9
A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility. 61 54
20453841 2010
10
ZAP70: a master regulator of adaptive immunity. 61 54
20135127 2010
11
Flow cytometry study of blood cell subtypes reflects autoimmune and inflammatory processes in autoimmune polyendocrine syndrome type I. 61 54
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
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
15
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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 NM_000448.2(RAG1):c.424C>T (p.Arg142Ter)SNV Pathogenic 626157 rs773929270 11:36595278-36595278 11:36573728-36573728
2 RAG1 RAG1, 2-BP DEL, 368AAdeletion Pathogenic 13151
3 RAG1 RAG1, 1-BP DEL, 631Tdeletion Pathogenic 13153
4 RAG1 NM_000448.2(RAG1):c.2521C>T (p.Arg841Trp)SNV Pathogenic 13154 rs104894287 11:36597375-36597375 11:36575825-36575825
5 RAG1 NM_000448.2(RAG1):c.2942A>C (p.Gln981Pro)SNV Pathogenic 13155 rs104894288 11:36597796-36597796 11:36576246-36576246
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 rs754502950 11:36597202-36597202 11:36575652-36575652
8 RAG1 NM_000448.2(RAG1):c.549G>A (p.Met183Ile)SNV Uncertain significance 626003 rs750394886 11:36595403-36595403 11:36573853-36573853
9 RAG1 NM_000448.2(RAG1):c.1064T>C (p.Met355Thr)SNV Uncertain significance 583401 rs151077440 11:36595918-36595918 11:36574368-36574368
10 CEL NM_001807.5(CEL):c.1966G>C (p.Ala656Pro)SNV Uncertain significance 128688 rs587780309 9:135946855-135946855 9:133071468-133071468
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
12.35 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
11.7 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 11.21 IL10 IFNG FOXP3
10
Show member pathways
11.05 IL10 IFNG FOXP3
11
Show member pathways
10.8 GAD2 GAD1
12 10.77 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 extracellular space GO:0005615 9.7 TPO TNFSF13B TG INS IL17A IL10
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 17)
# Name GO ID Score Top Affiliating Genes
1 B cell differentiation GO:0030183 9.63 TSHR RAG1 IL10
2 negative regulation of tumor necrosis factor production GO:0032720 9.58 PTPN22 IL10 FOXP3
3 carboxylic acid metabolic process GO:0019752 9.57 GAD2 GAD1
4 negative regulation of B cell proliferation GO:0030889 9.56 IL10 CTLA4
5 thyroid hormone generation GO:0006590 9.55 TPO TG
6 negative regulation of immune response GO:0050777 9.54 FOXP3 CTLA4
7 neurotransmitter biosynthetic process GO:0042136 9.52 GAD2 GAD1
8 negative regulation of interleukin-17 production GO:0032700 9.51 IFNG FOXP3
9 negative regulation of T cell proliferation GO:0042130 9.5 IL10 FOXP3 CTLA4
10 hormone biosynthetic process GO:0042446 9.49 TPO TG
11 positive regulation of MHC class II biosynthetic process GO:0045348 9.48 IL10 IFNG
12 positive regulation of interleukin-1 beta biosynthetic process GO:0050725 9.43 IL17A IFNG
13 positive regulation of cytokine secretion GO:0050715 9.43 INS IL10 IFNG
14 positive regulation of interleukin-23 production GO:0032747 9.37 IL17A IFNG
15 immune response GO:0006955 9.17 TNFSF13B RAG1 IL17A IL10 IFNG CTLA4
16 glutamate decarboxylation to succinate GO:0006540 9.16 GAD2 GAD1
17 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 protein binding GO:0005515 10.13 TSHR TNFSF13B TG RAG1 PTPRN PTPN22
2 cytokine activity GO:0005125 9.26 TNFSF13B IL17A IL10 IFNG
3 glutamate binding GO:0016595 9.16 GAD2 GAD1
4 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
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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