T-CMVA
MCID: ALP042
MIFTS: 65

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 20 29 13 6 39
Combined Immunodeficiency with Expansion of Gamma Delta T Cells 20 58
Combined Immunodeficiency Due to Partial Rag1 Deficiency 20 58
Cid with Expansion of Gamma Delta T Cells 20 58
Cid Due to Partial Rag1 Deficiency 20 58
Alpha/beta T-Cell Lymphopenia, with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection and Autoimmunity 72
Autoimmune Diseases 70
Autoimmune State 70
Autoimmunity 44
T-Cmva 72

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® 57 609889
ICD10 via Orphanet 33 D81.8
UMLS via Orphanet 71 C1835931
Orphanet 58 ORPHA231154
MedGen 41 C1835931
UMLS 70 C0004364 C0004368

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

GARD : 20 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.

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 limbic encephalitis and immunodysregulation, polyendocrinopathy, and enteropathy, x-linked. 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 : 72 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 1441)
# Related Disease Score Top Affiliating Genes
1 limbic encephalitis 31.6 TPO GAD2 GAD1
2 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 31.6 IL17A IL10 FOXP3 CTLA4 AIRE
3 hypoadrenocorticism, familial 31.3 TPO TG PTPN22 CTLA4 AIRE
4 autoimmune polyendocrine syndrome type 1 31.1 IL17A FOXP3 AIRE
5 systemic autoimmune disease 31.0 IL17A AIRE
6 diabetes mellitus, ketosis-prone 31.0 PTPRN INS GAD2 GAD1 CTLA4
7 graves disease 1 31.0 TSHR TPO TG INS
8 lupus erythematosus 30.8 PTPN22 IL10 IFNG CTLA4
9 alopecia 30.7 IFNG CTLA4 AIRE
10 cutaneous lupus erythematosus 30.7 TNFSF13B IL17A IL10 IFNG CTLA4
11 vitiligo-associated multiple autoimmune disease susceptibility 1 30.7 TPO PTPN22 IL17A CTLA4 AIRE
12 polyendocrinopathy 30.7 FOXP3 AIRE
13 allergic disease 30.7 IL10 IFNG FOXP3 CTLA4
14 anca-associated vasculitis 30.6 PTPN22 CTLA4
15 thyroid carcinoma 30.5 TSHR TPO TG
16 autoimmune hepatitis 30.5 TPO IL17A IL10 FOXP3 CTLA4 AIRE
17 myocarditis 30.5 IL17A IL10 IFNG CTLA4
18 uveitis 30.4 IL17A IL10 IFNG CTLA4
19 hypothyroidism 30.4 TSHR TPO TG INS CTLA4 AIRE
20 purpura 30.4 TNFSF13B IL10 IFNG
21 autoimmune uveitis 30.4 IL17A IL10 IFNG
22 thymoma 30.3 FOXP3 CTLA4 AIRE
23 thrombocytopenia due to platelet alloimmunization 30.3 TNFSF13B IL17A IL10
24 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 30.3 GAD2 GAD1 AIRE
25 goiter 30.3 TSHR TPO TG INS
26 omenn syndrome 30.3 RAG1 IL10 IFNG FOXP3 AIRE
27 thyroid gland disease 30.3 TSHR TPO TG INS CTLA4
28 latent autoimmune diabetes in adults 30.3 PTPN22 INS CTLA4
29 hyperthyroidism 30.3 TSHR TPO TG INS CTLA4
30 primary biliary cholangitis 30.3 PTPN22 FOXP3 CTLA4 AIRE
31 myasthenia gravis 30.2 TNFSF13B IL10 IFNG CTLA4 AIRE
32 cholangitis, primary sclerosing 30.2 IL17A IL10 AIRE
33 stiff-person syndrome 30.2 INS GAD2 GAD1
34 juvenile rheumatoid arthritis 30.2 IL10 IFNG CTLA4
35 insulinoma 30.2 PTPRN INS GAD1
36 chagas disease 30.2 IL17A IL10 IFNG CTLA4
37 spondylitis 30.2 IL17A IL10 IFNG
38 exophthalmos 30.2 TSHR TPO TG
39 severe combined immunodeficiency 30.2 RAG1 IL17A IL10 IFNG
40 chronic graft versus host disease 30.2 TNFSF13B IL10 IFNG
41 candidiasis 30.2 IL17A IL10 IFNG AIRE
42 exanthem 30.1 IL10 IFNG CTLA4
43 t cell deficiency 30.1 RAG1 IL17A CTLA4
44 endemic goiter 30.1 TSHR TPO TG
45 premature menopause 30.1 TPO TG INS AIRE
46 lichen planus 30.1 IL17A IL10 IFNG
47 hemolytic anemia 30.1 TNFSF13B IL17A IL10 IFNG
48 cutaneous candidiasis 30.1 IL17A AIRE
49 pernicious anemia 30.0 TPO TG PTPRN PTPN22 GAD2 AIRE
50 periodontitis 30.0 IL17A IL10 IFNG

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 11)
# 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 t lymphocytopenia 31 hallmark (90%) 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%)
11 decrease in t cell count 58 Very frequent (99-80%)

Clinical features from OMIM®:

609889 (Updated 05-Apr-2021)

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

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.4 AIRE CTLA4 FOXP3 GAD1 GAD2 IFNG
2 homeostasis/metabolism MP:0005376 10.35 AIRE CTLA4 FOXP3 GAD1 GAD2 IFNG
3 immune system MP:0005387 10.33 AIRE CTLA4 FOXP3 GAD2 IFNG IL10
4 growth/size/body region MP:0005378 10.32 AIRE FOXP3 GAD1 GAD2 IFNG IL10
5 digestive/alimentary MP:0005381 10.31 AIRE CTLA4 FOXP3 GAD1 GAD2 IFNG
6 hematopoietic system MP:0005397 10.31 AIRE CTLA4 FOXP3 IFNG IL10 IL17A
7 behavior/neurological MP:0005386 10.3 AIRE FOXP3 GAD1 GAD2 IFNG IL10
8 mortality/aging MP:0010768 10.18 AIRE CTLA4 FOXP3 GAD1 GAD2 IFNG
9 craniofacial MP:0005382 10.09 FOXP3 GAD1 GAD2 IFNG IL10 IL17A
10 integument MP:0010771 10.03 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 normal MP:0002873 9.91 AIRE CTLA4 FOXP3 GAD1 GAD2 IFNG
14 respiratory system MP:0005388 9.85 AIRE CTLA4 FOXP3 GAD1 GAD2 IFNG
15 skeleton MP:0005390 9.65 CTLA4 GAD1 IFNG IL10 IL17A INS
16 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 417)
# 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
Omalizumab Approved, Investigational Phase 4 242138-07-4
4
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
5
Azathioprine Approved Phase 4 446-86-6 2265
6
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
7
Mitoxantrone Approved, Investigational Phase 4 65271-80-9 4212
8
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
9
Cosyntropin Approved Phase 4 16960-16-0 16129617
10
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
11
Thalidomide Approved, Investigational, Withdrawn Phase 4 50-35-1 5426
12
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
13
Lactitol Approved, Investigational Phase 4 585-86-4 157355
14
Iodine Approved, Investigational Phase 4 7553-56-2 807
15
Liraglutide Approved Phase 4 204656-20-2 44147092
16
Saxagliptin Approved Phase 4 361442-04-8 11243969
17
Zinc Approved, Investigational Phase 4 7440-66-6 32051
18
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
19
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
20
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
21
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
22
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
23
Mycophenolic acid Approved Phase 4 24280-93-1 446541
24
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
25
Cephalexin Approved, Investigational, Vet_approved Phase 4 15686-71-2 27447
26
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
27
Cadexomer iodine Experimental Phase 4 94820-09-4
28
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
29 Autoantibodies Phase 4
30 Immunoglobulin A Phase 4
31 Hematinics Phase 4
32 Epoetin alfa Phase 4 113427-24-0
33 Immunoglobulin E Phase 4
34 Protective Agents Phase 4
35 Anti-Inflammatory Agents, Non-Steroidal Phase 4
36 Anthelmintics Phase 4
37 Amebicides Phase 4
38 Chloroquine diphosphate Phase 4 50-63-5
39 Vaccines Phase 4
40 Anti-Inflammatory Agents Phase 4
41 Hormone Antagonists Phase 4
42 Hormones Phase 4
43 glucocorticoids Phase 4
44 Antineoplastic Agents, Hormonal Phase 4
45 Neuroprotective Agents Phase 4
46 Antiemetics Phase 4
47 Angiogenesis Inhibitors Phase 4
48 Calcium, Dietary Phase 4
49 Nutrients Phase 4
50 Trace Elements Phase 4

Interventional clinical trials:

(show top 50) (show all 655)
# Name Status NCT ID Phase Drugs
1 Rituximab (RTX) Therapy in Steroid Resistant Patients or Patients Relapsing After Intravenous Steroids With Active TAO Unknown status NCT02378298 Phase 4 Rituximab;Iv Methylprednisolone;peroral methylprednisolone and Methotrexate
2 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
3 Calcitriol in the Treatment of Immunoglobulin A Nephropathy Unknown status NCT00862693 Phase 4 Calcitriol
4 Effect of Erythropoietin in Refractory Autoimmune Encephalitis Patients Unknown status NCT03004209 Phase 4 Erythropoietin
5 A Randomised, Open-label Clinical Trial Assessing the Efficacy and Safety of Mycophenolate Mofetil Versus Azathioprine for Induction of Remission in Treatment Naive Autoimmune Hepatitis Unknown status NCT02900443 Phase 4 Mycophenolate mofetil;Azathioprine
6 Immunotherapy in Intractable Cryptogenic Epilepsy Patients With Autoimmune Antibody Unknown status NCT02695797 Phase 4 Prednisolone
7 Alemtuzumab in Autoimmune Inflammatory Neurodegeneration: Mechanisms of Action and Neuroprotective Potential Unknown status NCT02419378 Phase 4 Alemtuzumab
8 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
9 An Open Label Case Series on the Effects of Xolair (Omalizumab) in Bullous Pemphigoid Completed NCT00472030 Phase 4 Omalizumab;prednisone
10 Everolimus in Association With Very Low-dose Tacrolimus Versus Enteric-coated Mycophenolate Sodium With Low-dose Tacrolimus in de Novo Renal Transplant Recipients - A Prospective Single Center Study Completed NCT02084446 Phase 4 Everolimus;Very Low Tacrolimus;Low Tacrolimus;Steroids;Thymoglobulin;Sodium Mycophenolate
11 Study Evaluating Rapid Infusion Rituximab in Patients With Autoimmune Diseases Completed NCT02040116 Phase 4 Rituximab Infusion
12 A Placebo Controlled Trial of Amoxicillin for Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infections Completed NCT00001658 Phase 4 Amoxicillin
13 Immune Response After Human Papillomavirus Vaccination in Patients With Autoimmune Disease Completed NCT00815282 Phase 4
14 A Pilot Study of Mitoxantrone for the Treatment of Recurrent Neuromyelitis Optica (Devic's Disease) Completed NCT00304291 Phase 4 Mitoxantrone
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 Early Insulin Treatment in Patients With Latent Autoimmune Diabetes (LADA) Completed NCT01109927 Phase 4 Insulin
17 Mycophenolate vs Azathioprin in Autoimmune Hepatitis Completed NCT00687180 Phase 4 Treatment with mycophenolat mofetil;Treatment with azathioprin
18 Immunotherapeutic Rescue of Steroidogenic Function in Autoimmune Adrenocortical Failure: Pilot Study Completed NCT00753597 Phase 4 Solu-medrone, Mabthera
19 Possible Role of Chloroquine in Conjunction to Prednisone to Induce a Complete Remission in the Treatment of Autoimmune Hepatitis: a Randomized Trial Completed NCT02463331 Phase 4 Chloroquine diphosphate;prednisone;azathioprine
20 L-selenomethionine Supplementation in Children and Adolescents With Autoimmune Thyroiditis: a Randomized Blind Placebo-controlled Clinical Trial Completed NCT02644707 Phase 4
21 DOUBLE-BLIND RANDOMIZED CLINICAL TRIAL WITH CHLOROQUINE VERSUS PLACEBO FOR MAINTENANCE OF REMISSION OF AUTOIMMUNE HEPATITIS Completed NCT01980745 Phase 4 Chloroquine diphosphate 250mg;Placebo
22 CellCept (Mycophenolate Mofetil, MMF) Maintenance Immunosuppression in Liver Transplant Recipients With Long-term Follow-up Post-transplantation for Non-Autoimmune Liver Disease - A Prospective, Randomized, Multicenter Trial. Completed NCT00206076 Phase 4 mycophenolate mofetil;mycophenolate mofetil
23 Revival of Autochthonous Adrenocortical Stem Cells in Autoimmune Addison's Disease Completed NCT01371526 Phase 4 depot tetracosactide
24 Assessment of Platelet Function in Patients With Chronic Autoimmune Thrombocytopenic Purpura (cAITP) Treated With the Thrombopoietin Receptor (MPL) Agonist Eltrombopag. Completed NCT00888901 Phase 4 eltrombopag;corticosteroids (Aprednislon)
25 Patient-Reported AutoImmunity Secondary to Cancer immunothErapy Recruiting NCT03849131 Phase 4
26 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
27 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
28 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) Recruiting NCT04015596 Phase 4 Naproxen Sodium
29 An Open-label, Multi-center Protocol for Patients Who Have Completed a Previous Novartis Sponsored Secukinumab Study and Are Judged by the Investigator to Benefit From Continued Secukinumab Treatment Recruiting NCT04638647 Phase 4
30 Tacrolimus Treatment for Refractory Autoimmune Cytopenia Recruiting NCT03918265 Phase 4 Tacrolimus
31 Randomized Clinical Trial, Blinded for the Researcher and Multicenter, to Evaluate the Efficacy and Safety of Preoperative Preparation With Lugol Solution in Euthyroid Patients With Graves-Basedow Disease. Recruiting NCT03980132 Phase 4 Lugols Strong Iodine
32 Ursodeoxycholic Acid Combined With Low Dose Glucocorticoid in the Treatment of PBC With AIH Features II:A Randomized Controlled Open-label Clinical Trial Recruiting NCT04617561 Phase 4 Ursodeoxycholic acid;Ursodeoxycholic acid+Low Dose Glucocorticoid(Methylprednisolone)
33 The Effect of Metformin as add-on to Insulin in Non-obese Patients With Autoimmune Diabetes Recruiting NCT03513874 Phase 4 Metformin;Insulin
34 Immunogenicity and Safety of the CoronaVac Vacccine in Patients With Autoimmune Rheumatic Diseases and People Living With HIV/AIDS Recruiting NCT04754698 Phase 4
35 Effect of Liraglutide as Additional Treatment to Insulin in Patients With Autoimmune Diabetes Mellitus Recruiting NCT03011008 Phase 4 Liraglutide;Insulin
36 A Randomized Controlled, Open-label, Multi-center Study With 104-week Saxagliptin or (and) Vitamin D3 Assessing Protective Effects on Beta Cell Function in Latent Autoimmune Diabetes in Adults (LADA) Treated With Metformin (and Insulin) Recruiting NCT02407899 Phase 4 Saxagliptin;Vitamin D3;Insulin;Metformin
37 Randomized Controlled Trial of Preoperative Steroids in Autoimmune Thyroid Disease Recruiting NCT04542278 Phase 4 Prednisone
38 Exploring the Effects of IL-23 Inhibition by Risankizumab on Psoriasis Autoimmunity Not yet recruiting NCT04722640 Phase 4 SKYRIZI
39 Antibiotic Prophylaxis in High-Risk Arthroplasty Patients Not yet recruiting NCT04297592 Phase 4 Cephalexin Oral Tablet;Doxycycline Hyclate
40 Mycophenolate Mofetil Versus Cyclosporin A in the Treatment of Primary Biliary Cholangitis-autoimmune Hepatitis Overlap Syndrome Duo to Nonresponse to Standard Therapy Not yet recruiting NCT04376528 Phase 4 Cyclosporin A;Mycophenolate Mofetil
41 Effects of Berberine Hydrochloride and Stachyose Combination on β Cell Function in Patients With Adult-onset Latent Autoimmune Diabetes(LADA): A Randomized Controlled Trial Not yet recruiting NCT04698330 Phase 4 Berberine hydrochloride and stachyose combination;Insulin;Placebo
42 Hydroxychloroquine in SARS-CoV-2 (COVID-19) Pneumonia Trial Withdrawn NCT04382625 Phase 4 Hydroxychloroquine
43 Autoimmune Diabetes Accelerator Prevention Trial - adAPT Stage 1 Withdrawn NCT02881528 Phase 4 Metformin Hydrochloride;Placebo
44 Pilot Double-Blind Placebo Controlled Trial of Levothyroxine in Pregnant Systemic Lupus Erythematosus (SLE) Patients With Autoimmune Thyroid Disease Withdrawn NCT01276782 Phase 4 Levothyroxine
45 Clinical and Immunological Long-term Follow-up of Patients With Pemphigus Included in the "RITUXIMAB 3" Trial With Medico-economic Evaluation of the Treatment. Unknown status NCT03790293 Phase 3 Rituximab;corticosteroids'therapy
46 A Study of a Topical Formulation of Nitroglycerin, MQX-503, and Matching Vehicle in the Treatment and Prevention of Raynaud's Phenomenon Unknown status NCT00577304 Phase 3 Nitroglycerin;Topical AmphiMatrix
47 Whole Lung Lavage Followed by Inhaled Sargramostim in the Treatment of Autoimmune Pulmonary Alveolar Proteinosis Unknown status NCT00901511 Phase 2, Phase 3 GM-CSF [Leukine (Sargramostim)]
48 Phase 3 Randomized, Double-blind Study Of The Efficacy And Safety Of 2 Doses Of Cp-690,550 Compared To Methotrexate In Methotrexate Navie Patients With Rheumatoid Arthritis Completed NCT01039688 Phase 3 CP-690,550;CP-690,550;Disease-modifying antirheumatic drug
49 Measurement and Analysis of Patient Reported Gastrointestinal (GI) and Health-related Quality of Life (HRQL) Outcomes in Patients With Autoimmune Diseases Treated With Mycophenolate (MPA) Completed NCT00351377 Phase 3 Enteric-coated Mycophenolate Sodium
50 Childhood Onset Psychiatric Disorders: A Placebo Controlled Double-Blind Crossover Trial of Intravenous Immunoglobulin (IVIg) Completed NCT00001768 Phase 3 Intravenous immunoglobulin

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 70 / 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:

40
T Cells, Thyroid, B Cells, Skin, Myeloid, Bone Marrow, Thymus

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 30292)
# Title Authors PMID Year
1
A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. 6 57
16276422 2005
2
Characterization of T and B cell repertoire diversity in patients with RAG deficiency. 61 6
28783691 2016
3
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency. 61 6
24290284 2014
4
Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency. 6
21664875 2011
5
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
6
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. 6
11133745 2001
7
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
8
Partial V(D)J recombination activity leads to Omenn syndrome. 6
9630231 1998
9
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
10
Flow cytometry study of blood cell subtypes reflects autoimmune and inflammatory processes in autoimmune polyendocrine syndrome type I. 61 54
20500699 2010
11
Lymphoid tyrosine phosphatase and autoimmunity: human genetics rediscovers tyrosine phosphatases. 61 54
20204370 2010
12
Genetics of thyroid autoimmunity and the role of the TSHR. 61 54
20083159 2010
13
The Toll-like receptor 4 ligands Mrp8 and Mrp14 are crucial in the development of autoreactive CD8+ T cells. 61 54
20473308 2010
14
Antigen-specific CD25- Foxp3- IFN-gamma(high) CD4+ T cells restrain the development of experimental allergic encephalomyelitis by suppressing Th17. 61 54
20382706 2010
15
A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility. 61 54
20453841 2010
16
ZAP70: a master regulator of adaptive immunity. 61 54
20135127 2010
17
FcgammaRIIB in autoimmunity and infection: evolutionary and therapeutic implications. 54 61
20414206 2010
18
Toll-like receptor 2 signaling in CD4(+) T lymphocytes promotes T helper 17 responses and regulates the pathogenesis of autoimmune disease. 61 54
20434372 2010
19
Pathogenesis of thyroid-associated ophthalmopathy: does autoimmunity against calsequestrin and collagen XIII play a role? 54 61
20505833 2010
20
Autoimmune polyglandular syndromes. 61 54
20309000 2010
21
Narcolepsy: autoimmunity, effector T cell activation due to infection, or T cell independent, major histocompatibility complex class II induced neuronal loss? 61 54
20403960 2010
22
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
23
Diverse targets of the transcription factor STAT3 contribute to T cell pathogenicity and homeostasis. 61 54
20493732 2010
24
Gene modulation and immunoregulatory roles of interferon gamma. 54 61
20036577 2010
25
Involvement of CD91 and scavenger receptors in Hsp70-facilitated activation of human antigen-specific CD4+ memory T cells. 54 61
20101615 2010
26
Glucose intolerance and diabetes following antigen-specific insulitis in diabetes-susceptible "humanized" transgenic mice. 61 54
20350527 2010
27
Recent advances on the immunomodulatory effects of IFN-alpha: implications for cancer immunotherapy and autoimmunity. 61 54
20187707 2010
28
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. 54 61
20035856 2010
29
Cbl-b and itch: key regulators of peripheral T-cell tolerance. 61 54
20395198 2010
30
Granzyme B cleavage of autoantigens in autoimmunity. 61 54
20075942 2010
31
TNF activates a NF-kappaB-regulated cellular program in human CD45RA- regulatory T cells that modulates their suppressive function. 54 61
20181891 2010
32
Cleavage of transaldolase by granzyme B causes the loss of enzymatic activity with retention of antigenicity for multiple sclerosis patients. 54 61
20194725 2010
33
In vivo modulation of the expressions of Fas and CD25 by intravenous immunoglobulin in common variable immunodeficiency. 54 61
19730984 2010
34
Pathogenesis of thyroid eye disease--does autoimmunity against the TSH receptor explain all cases? 54 61
20464711 2010
35
Autoimmunity by anti-tumour necrosis factor-alpha agents: the role of traditional therapies. 61 54
19686257 2010
36
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. 54 61
20028939 2010
37
High Mobility Group Box 1: a potential therapeutic target for systemic lupus erythematosus. 61 54
19247800 2010
38
Genetic variations in the heparanase gene (HPSE) associate with increased risk of GVHD following allogeneic stem cell transplantation: effect of discrepancy between recipients and donors. 61 54
20075159 2010
39
WASP: a key immunological multitasker. 54 61
20182458 2010
40
CD154 expression triggered by purine analogues in vitro: Correlation with treatment response and autoimmune events in chronic lymphocytic leukemia. 61 54
20026377 2010
41
Regulation of interleukin-10 gene expression in macrophages engulfing apoptotic cells. 54 61
20187777 2010
42
T cell/transmembrane, Ig, and mucin-3 allelic variants differentially recognize phosphatidylserine and mediate phagocytosis of apoptotic cells. 61 54
20083673 2010
43
B-cell biology and related therapies in systemic lupus erythematosus. 61 54
20202594 2010
44
Systemic mannose-binding lectin is not associated with Chronic Obstructive Pulmonary Disease. 61 54
19836222 2010
45
Serum cytokine profile in hepatitis C virus carriers presenting cryoglobulinaemia and non-organ-specific autoantibodies. 54 61
20005287 2010
46
[Survey of recent clinical trials of the prevention and immunointervention of type 1 diabetes mellitus]. 54 61
20166000 2010
47
T cells reactive with the NC16A domain of BP180 are present in vulval lichen sclerosus and lichen planus. 61 54
19686329 2010
48
Clinical associations of the genetic variants of CTLA-4, Tg, TSHR, PTPN22, PTPN12 and FCRL3 in patients with Graves' disease. 61 54
19438904 2010
49
Defects in IL-2R signaling contribute to diminished maintenance of FOXP3 expression in CD4(+)CD25(+) regulatory T-cells of type 1 diabetic subjects. 54 61
19875613 2010
50
Cutting edge: spontaneous development of IL-17-producing gamma delta T cells in the thymus occurs via a TGF-beta 1-dependent mechanism. 61 54
20061408 2010

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 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAG1 RAG1, 2-BP DEL, 368AA Deletion Pathogenic 13151 GRCh37:
GRCh38:
2 RAG1 RAG1, 1-BP DEL, 631T Deletion Pathogenic 13153 GRCh37:
GRCh38:
3 RAG1 NM_000448.2(RAG1):c.2521C>T (p.Arg841Trp) SNV Pathogenic 13154 rs104894287 GRCh37: 11:36597375-36597375
GRCh38: 11:36575825-36575825
4 RAG1 NM_000448.2(RAG1):c.2942A>C (p.Gln981Pro) SNV Pathogenic 13155 rs104894288 GRCh37: 11:36597796-36597796
GRCh38: 11:36576246-36576246
5 RAG1 NM_000448.2(RAG1):c.1871G>A (p.Arg624His) SNV Pathogenic 624578 rs199474680 GRCh37: 11:36596725-36596725
GRCh38: 11:36575175-36575175
6 RAG1 NM_000448.2(RAG1):c.424C>T (p.Arg142Ter) SNV Pathogenic 626157 rs773929270 GRCh37: 11:36595278-36595278
GRCh38: 11:36573728-36573728
7 RAG1 NM_000448.2(RAG1):c.322C>T (p.Arg108Ter) SNV Pathogenic 36714 rs193922464 GRCh37: 11:36595176-36595176
GRCh38: 11:36573626-36573626
8 RAG1 NM_000448.2(RAG1):c.2348C>G (p.Ser783Ter) SNV Likely pathogenic 573434 rs754502950 GRCh37: 11:36597202-36597202
GRCh38: 11:36575652-36575652
9 RAG1 NM_000448.2(RAG1):c.1303A>G (p.Met435Val) SNV Likely pathogenic 68680 rs141524540 GRCh37: 11:36596157-36596157
GRCh38: 11:36574607-36574607
10 RAG1 NM_000448.3(RAG1):c.2749C>T (p.Gln917Ter) SNV Likely pathogenic 976229 GRCh37: 11:36597603-36597603
GRCh38: 11:36576053-36576053
11 RAG1 NM_000448.2(RAG1):c.549G>A (p.Met183Ile) SNV Uncertain significance 626003 rs750394886 GRCh37: 11:36595403-36595403
GRCh38: 11:36573853-36573853
12 RAG1 NM_000448.2(RAG1):c.1064T>C (p.Met355Thr) SNV Uncertain significance 583401 rs151077440 GRCh37: 11:36595918-36595918
GRCh38: 11:36574368-36574368
13 RAG1 NM_000448.3(RAG1):c.1264G>T (p.Ala422Ser) SNV Uncertain significance 1033033 GRCh37: 11:36596118-36596118
GRCh38: 11:36574568-36574568
14 RAG1 NM_000448.3(RAG1):c.1480A>G (p.Ile494Val) SNV Uncertain significance 1033034 GRCh37: 11:36596334-36596334
GRCh38: 11:36574784-36574784
15 RAG1 NM_000448.3(RAG1):c.2487_2488delinsTT (p.Arg829_Lys830delinsSerTer) Indel Uncertain significance 1034220 GRCh37: 11:36597341-36597342
GRCh38: 11:36575791-36575792
16 RAG1 NM_000448.3(RAG1):c.2988G>T (p.Leu996Phe) SNV Uncertain significance 1034221 GRCh37: 11:36597842-36597842
GRCh38: 11:36576292-36576292
17 CEL NM_001807.5(CEL):c.1966G>C (p.Ala656Pro) SNV Uncertain significance 128688 rs587780309 GRCh37: 9:135946855-135946855
GRCh38: 9:133071468-133071468

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

72
# 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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.38 IL17A IL10 IFNG CTLA4
2
Show member pathways
12.36 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 11.59 TNFSF13B IL17A IFNG CTLA4
6 11.56 IL17A IL10 IFNG
7
Show member pathways
11.51 IL17A IL10 IFNG
8
Show member pathways
11.49 IFNG FOXP3 CTLA4
9 11.38 TNFSF13B IL10 FOXP3 CTLA4
10 11.24 IL10 IFNG FOXP3
11
Show member pathways
11.1 IL10 IFNG FOXP3
12
Show member pathways
10.81 GAD2 GAD1
13 10.78 GAD2 GAD1
14
Show member pathways
10.62 GAD2 GAD1
15 10.54 GAD2 GAD1
16 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 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 9.61 PTPN22 IL10 FOXP3
3 negative regulation of interleukin-6 production GO:0032715 9.58 PTPN22 IL10 FOXP3
4 carboxylic acid metabolic process GO:0019752 9.57 GAD2 GAD1
5 negative regulation of B cell proliferation GO:0030889 9.56 IL10 CTLA4
6 thyroid hormone generation GO:0006590 9.55 TPO TG
7 negative regulation of immune response GO:0050777 9.54 FOXP3 CTLA4
8 positive regulation of cytokine production GO:0001819 9.54 INS IL10 IFNG
9 neurotransmitter biosynthetic process GO:0042136 9.52 GAD2 GAD1
10 positive regulation of signaling receptor activity GO:2000273 9.51 IL10 IFNG
11 positive regulation of MHC class II biosynthetic process GO:0045348 9.49 IL10 IFNG
12 hormone biosynthetic process GO:0042446 9.48 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 9.32 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 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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