T-CMVA
MCID: ALP042
MIFTS: 26

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

Categories: Genetic diseases, Immune diseases
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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 12 5 38
Alpha/beta T-Cell Lymphopenia, with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection and Autoimmunity 73
Autoimmune Diseases 71
Autoimmune State 71
T-Cmva 73

Classifications:



External Ids:

OMIM® 57 609889
MedGen 40 C1835931
UMLS 71 C0004364 C0004368

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

UniProtKB/Swiss-Prot: 73 An immunological disorder characterized by oligoclonal expansion of TCR gamma/delta T-cells, TCR alpha/beta T-cell lymphopenia, severe, disseminated cytomegalovirus infection and autoimmune cytopenia.

MalaCards based summary: Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity, is also known as alpha/beta t-cell lymphopenia, with gamma/delta t-cell expansion, severe cytomegalovirus infection and autoimmunity. 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). The drugs Sofosbuvir and Ledipasvir have been mentioned in the context of this disorder. Affiliated tissues include t cells, bone marrow and thyroid.

More information from OMIM: 609889

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

Symptoms & Phenotypes for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion,...

Clinical features from OMIM®:

609889 (Updated 24-Oct-2022)

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 289)
# 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
Mitoxantrone Approved, Investigational Phase 4 70476-82-3, 65271-80-9 4212
4
Thalidomide Approved, Investigational, Withdrawn Phase 4 50-35-1 5426
5
Hydroxychloroquine Approved Phase 4 118-42-3 3652
6
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
7
Rituximab Approved Phase 4 174722-31-7
8
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
9
Cephalexin Approved, Investigational, Vet_approved Phase 4 15686-71-2 27447
10
Meticillin Approved, Investigational Phase 4 61-32-5 6087
11
Naproxen Approved, Vet_approved Phase 4 22204-53-1 156391 1302
12
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 5280453
13 Immunoglobulin A Phase 4
14 Vasoconstrictor Agents Phase 4
15 Angiogenesis Inhibitors Phase 4
16 Analgesics Phase 4
17 Anti-Inflammatory Agents Phase 4
18 Antineoplastic Agents, Immunological Phase 4
19 Antibiotics, Antitubercular Phase 4
20 Anti-Bacterial Agents Phase 4
21 Anti-Inflammatory Agents, Non-Steroidal Phase 4
22 Analgesics, Non-Narcotic Phase 4
23 Antimalarials Phase 4
24 Antiprotozoal Agents Phase 4
25 Antiparasitic Agents Phase 4
26 Cephalosporins Phase 4
27 Cyclooxygenase Inhibitors Phase 4
28 Complement C3 Phase 4
29
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
30
Adalimumab Approved, Experimental Phase 3 331731-18-1
31
Infliximab Approved Phase 3 170277-31-3
32
Golimumab Approved Phase 3 476181-74-5
33
Etanercept Approved, Investigational Phase 3 185243-69-0
34
Nitroglycerin Approved, Investigational Phase 3 55-63-0 4510
35
Coenzyme M Approved, Investigational Phase 2, Phase 3 3375-50-6 598 23662354
36
Aluminum sulfate Approved Phase 3 10043-01-3
37
Aluminum hydroxide Approved, Investigational Phase 3 21645-51-2
38
Sargramostim Approved, Investigational Phase 3 123774-72-1
39
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
40
Tannic acid Approved Phase 3 1401-55-4 16129878 16129778
41
Glutamic acid Approved, Nutraceutical Phase 3 56-86-0 33032
42
Abetimus Investigational Phase 3 167362-48-3
43
Molgramostim Investigational Phase 3 99283-10-0
44 Antibodies Phase 3
45 Immunoglobulins Phase 3
46 Antineoplastic Agents, Alkylating Phase 2, Phase 3
47 Alkylating Agents Phase 2, Phase 3
48 Immunoglobulins, Intravenous Phase 3
49 Antilymphocyte Serum Phase 2, Phase 3
50 gamma-Globulins Phase 3

Interventional clinical trials:

(show top 50) (show all 342)
# Name Status NCT ID Phase Drugs
1 Calcitriol in the Treatment of Immunoglobulin A Nephropathy Unknown status NCT00862693 Phase 4 Calcitriol
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 A Pilot Study of Mitoxantrone for the Treatment of Recurrent Neuromyelitis Optica (Devic's Disease) Completed NCT00304291 Phase 4 Mitoxantrone
4 Study Evaluating Rapid Infusion Rituximab in Patients With Autoimmune Diseases Completed NCT02040116 Phase 4 Rituximab Infusion
5 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
6 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 Completed NCT03122431 Phase 4 Thalidomide;Hydroxychloroquine reduced;standard dose of HCQ
7 Influence of Plasma Exchange Therapy on the Pharmacokinetics of Rituximab in Patients Treated for Autoimmune Disorders. Completed NCT00820469 Phase 4 Rituximab 375;rituximab 1000
8 Immune Response After Human Papillomavirus Vaccination in Patients With Autoimmune Disease Completed NCT00815282 Phase 4
9 A Placebo Controlled Trial of Amoxicillin for Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infections Completed NCT00001658 Phase 4 Amoxicillin
10 Antibiotic Prophylaxis in High-Risk Arthroplasty Patients Recruiting NCT04297592 Phase 4 Cephalexin Oral Tablet;Doxycycline Hyclate
11 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
12 Patient-Reported AutoImmunity Secondary to Cancer immunothErapy Recruiting NCT03849131 Phase 4
13 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
14 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
15 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
16 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
17 Evaluation of Therapeutic Plasma Exchange (TPE) Procedure Using the AMICUS Device Completed NCT01210716 Phase 3
18 Phase III "In-Life" Study of a Topical Gel Formulation of Nitroglycerin, MQX-503, and Matching Placebo Gel in the Treatment and Prevention of Raynaud's Phenomenon Completed NCT00419419 Phase 3 Topical AmphiMatrix with nitroglycerin (MQX-503)
19 A Randomized, Double-Blind, Placebo-Controlled, Multicenter Safety and Efficacy Trial of LJP 394 in Systemic Lupus Erythematosus (SLE) Patients With a History of Renal Disease Completed NCT00035308 Phase 3 Abetimus sodium (LJP 394)
20 A Golimumab Phase 3b, Multicenter, Switch Assessment of Subcutaneous and Intravenous Efficacy in Rheumatoid Arthritis Patients Who Have Inadequate Disease Control Despite Treatment With Etanercept (ENBREL) or Adalimumab (HUMIRA) Completed NCT01004432 Phase 3 Golimumab 50 mg SC;Golimumab 2 mg/kg IV;Methotrexate (MTX);Placebo SC;Placebo IV
21 Double-Blind, Parallel-group Comparison, Investigators Initiated Phase II Clinical Trial of IDEC-C2B8 (Rituximab) in Patients With Systemic Sclerosis Completed NCT04274257 Phase 2, Phase 3 Double-Blind Placebo;Double-Blind Rituximab
22 Childhood Onset Psychiatric Disorders: A Placebo Controlled Double-Blind Crossover Trial of Intravenous Immunoglobulin (IVIg) Completed NCT00001768 Phase 3 Intravenous immunoglobulin
23 Phase 3 Study of Hydroxychloroquine Treatment of Dry Eyes in Patients With Primary Sjögren's Syndrome Completed NCT01601028 Phase 3 Hydroxychloroquine;Placebo
24 An Open-label, Non-controlled, Multicentre Clinical Trial of Inhaled Molgramostim in Autoimmune Pulmonary Alveolar Proteinosis Patients Completed NCT03482752 Phase 3 Molgramostim
25 A Phase 3, Multicenter, Randomized, Double Blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of Subcutaneous LY2127399 in Participants With Systemic Lupus Erythematosus (SLE) Completed NCT01196091 Phase 3 LY2127399;Placebo every 2 weeks;Placebo every 4 weeks;Standard of Care
26 A Phase 3, Multicenter, Randomized, Double-blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Subcutaneous LY2127399 in Patients With Systemic Lupus Erythematosus (SLE) Completed NCT01205438 Phase 3 LY2127399;Placebo every 2 weeks;Placebo every 4 weeks
27 Immunogenicity and Duration of Immunity in Immunosuppressed Children Vaccinated With Quadrivalent HPV Vaccine Completed NCT02263703 Phase 3
28 A Randomized, Open-Label, Phase II Multicenter Study of High-Dose Immunosuppressive Therapy Using Total Body Irradiation, Cyclophosphamide, ATGAM, and Autologous Transplantation With Auto-CD34+HPC Versus Intravenous Pulse Cyclophosphamide for the Treatment of Severe Systemic Sclerosis (SCSSc-01) Completed NCT00114530 Phase 2, Phase 3 cyclophosphamide
29 Phase III Laboratory Study of a Topical Gel Formulation of Nitroglycerin, MQX-503, in the Treatment of Raynaud's Phenomenon Completed NCT00253331 Phase 2, Phase 3 topical organogel with nitroglycerin
30 A Placebo-Controlled Trial of Intravenous Immunoglobulin (IVIG) for PANDAS (Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infections) Completed NCT01281969 Phase 3 Gamunex Intravenous Immunoglobulin;Placebo
31 A Phase III, Randomized, Double-blind, Placebo-controlled, Multicenter Trial to Evaluate the Efficacy and Safety of Diamyd® to Preserve Endogenous Beta Cell Function in Adolescents and Adults With Recently Diagnosed Type 1 Diabetes, Carrying the Genetic HLA DR3-DQ2 Haplotype Recruiting NCT05018585 Phase 3
32 Effect of One-week vs Two-week Discontinuation of Methotrexate on Efficacy of Seasonal Influenza Vaccination in Patients With Rheumatoid Arthritis: A Randomized Clinical Trial Recruiting NCT05069714 Phase 3 MTX-hold
33 A Randomized, Double-blind, Placebo-controlled Clinical Trial of Once-daily Inhaled Molgramostim Nebulizer Solution in Adult Subjects With Autoimmune Pulmonary Alveolar Proteinosis (aPAP) Recruiting NCT04544293 Phase 3 Molgramostim;Placebo
34 COVID-19 Vaccine in Immunosuppressed Adults With Autoimmune Diseases Active, not recruiting NCT04806113 Phase 3
35 A Phase 3b, Multicenter, Open-Label Study to Evaluate the Long-Term Safety and Efficacy of Subcutaneous LY2127399 in Participants With Systemic Lupus Erythematosus (SLE) (Illuminate-X) Terminated NCT01488708 Phase 3 LY2127399;Placebo
36 Phase I/II Open-Label Monocentric Clinical Trial for Induction of Tolerance With CD34-Enriched Autologous Hematopoietic Stem Cell Transplantation After High-Dose Chemotherapy With Cyclophosphamide and Rabbit-Antithymocyte Globulin for Refractory Autoimmune Diseases Unknown status NCT00742300 Phase 1, Phase 2
37 Efficacy and Safety of Levamisole Combined With Standard Prednisolone in Warm Antibody Autoimmune Hemolytic Anemia. Unknown status NCT01579110 Phase 2 levamisole;Prednisone
38 Phase 1 Clinical Trial Using Regulatory T Cells as Individualized Medicine to Evaluate the Safety and Efficacy in Autoimmune Hepatitis Unknown status NCT02704338 Phase 1, Phase 2
39 A Phase 2 Randomized, Double-blind, Placebo-controlled Study in HLA-DQ2.5+ Adults With Celiac Disease to Assess the Effect of Nexvax2 on Symptoms After Masked Gluten Food Challenge Unknown status NCT03644069 Phase 2
40 A Prospective Study of Inhaling Granulocyte-macrophage Colony Stimulating Factor in Adult Patients With Mild-to-moderate Autoimmune Pulmonary Alveolar Proteinosis in China: a Randomized Open-label Study Unknown status NCT02243228 Phase 2 GM-CSF
41 A Randomized Trial of Treatment in Patients With IgG4-Related Disease Unknown status NCT02458196 Phase 2 Prednisone;Prednisone and Mycophenolate mofetil
42 Multicenter Clinical Trial Phase I / II Randomized, Placebo-controlled Study to Evaluate Safety and Feasibility of Therapy With Two Different Doses of Autologous Mesenchymal Stem Cells in Patients With Secondary Progressive Multiple Sclerosis Who do Not Respond to Treatment Completed NCT01056471 Phase 1, Phase 2
43 The Use of Riboflavin/Ultraviolet A Cross-linked Human Donor Corneas as Carriers for the Boston Keratoprosthesis Completed NCT01582880 Phase 1, Phase 2 Riboflavin
44 A Phase 2 Double-Blind, Placebo Controlled Multi-Center Study to Evaluate the Efficacy and Safety of Tcelna in Subjects With Secondary Progressive Multiple Sclerosis Completed NCT01684761 Phase 2
45 Expanded-access for the Use of Setmelanotide in a Single Patient With Partial Lipodystrophy (LD) Associated With Leptin Deficiency and Multiple Autoimmune Diseases Completed NCT03262610 Phase 2 Setmelanotide
46 A Phase II Study of Efficacy and Tolerance of Azacitidine (AZA) In MDS-associated Steroid Dependent/Refractory Systemic Auto-immune and Inflammatory Disorders (SAID) Completed NCT02985190 Phase 2 Azacitidine
47 Efficacy of Subantimicrobial Dose Doxycycline for Moderate to Severe and Active Graves' Orbitopathy: a Prospective, Uncontrolled Pilot Study Completed NCT01727973 Phase 1, Phase 2 Doxycycline
48 Phase II Study of High-Dose Cyclophosphamide in Patients With Severe Autoimmune Hematologic Disease Completed NCT00010387 Phase 2 cyclophosphamide;filgrastim
49 A Phase IIb, 2-Arm, Randomized, Double-blind, Placebo-Controlled, Multicentre Study to Optimize Diamyd® Therapy Administered Into Lymph Nodes Combined With Oral Vitamin D to Investigate the Impact on the Progression of Type 1 Diabetes Completed NCT03345004 Phase 2
50 Efficacy and Safety of Transplantation of Autologous Stem Cells Into Pancreatic Artery, Combined With Immunomodulation for the Treatment of Type 1 Diabetes Mellitus Completed NCT02644759 Phase 1, Phase 2

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

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

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

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

MalaCards : T Cells, Bone Marrow, Thyroid, Lung, B Cells, Tongue, Kidney

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:

# Title Authors PMID Year
1
A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. 57 5
16276422 2005
2
Characterization of T and B cell repertoire diversity in patients with RAG deficiency. 5
28783691 2016
3
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency. 5
24290284 2014
4
Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency. 5
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. 5
11313270 2001
6
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. 5
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. 5
11121059 2000
8
Partial V(D)J recombination activity leads to Omenn syndrome. 5
9630231 1998

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:

5 (show all 19)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAG1 NM_000448.3(RAG1):c.2942A>C (p.Gln981Pro) SNV Pathogenic
13155 rs104894288 GRCh37: 11:36597796-36597796
GRCh38: 11:36576246-36576246
2 RAG1 NM_000448.3(RAG1):c.2521C>T (p.Arg841Trp) SNV Pathogenic
13154 rs104894287 GRCh37: 11:36597375-36597375
GRCh38: 11:36575825-36575825
3 RAG1 NM_000448.3(RAG1):c.1871G>A (p.Arg624His) SNV Pathogenic
624578 rs199474680 GRCh37: 11:36596725-36596725
GRCh38: 11:36575175-36575175
4 RAG1 NM_000448.3(RAG1):c.322C>T (p.Arg108Ter) SNV Pathogenic
36714 rs193922464 GRCh37: 11:36595176-36595176
GRCh38: 11:36573626-36573626
5 RAG1 NM_000448.3(RAG1):c.424C>T (p.Arg142Ter) SNV Pathogenic
626157 rs773929270 GRCh37: 11:36595278-36595278
GRCh38: 11:36573728-36573728
6 RAG1 NM_000448.3(RAG1):c.256_257del (p.Lys86fs) DEL Pathogenic
285045 rs772962160 GRCh37: 11:36595110-36595111
GRCh38: 11:36573560-36573561
7 RAG1 NM_000448.3(RAG1):c.519del (p.Glu174fs) DEL Pathogenic
624599 rs1241698978 GRCh37: 11:36595373-36595373
GRCh38: 11:36573823-36573823
8 RAG1 NM_000448.3(RAG1):c.2348C>G (p.Ser783Ter) SNV Likely Pathogenic
573434 rs754502950 GRCh37: 11:36597202-36597202
GRCh38: 11:36575652-36575652
9 RAG1 NM_000448.3(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 rs1850845029 GRCh37: 11:36597603-36597603
GRCh38: 11:36576053-36576053
11 RAG1 NM_000448.3(RAG1):c.1480A>G (p.Ile494Val) SNV Uncertain Significance
1033034 rs777216600 GRCh37: 11:36596334-36596334
GRCh38: 11:36574784-36574784
12 RAG1 NM_000448.3(RAG1):c.2988G>T (p.Leu996Phe) SNV Uncertain Significance
1034221 rs1388654836 GRCh37: 11:36597842-36597842
GRCh38: 11:36576292-36576292
13 RAG1 NM_000448.3(RAG1):c.206C>G (p.Ala69Gly) SNV Uncertain Significance
1679564 GRCh37: 11:36595060-36595060
GRCh38: 11:36573510-36573510
14 RAG1 NM_000448.3(RAG1):c.549G>A (p.Met183Ile) SNV Uncertain Significance
626003 rs750394886 GRCh37: 11:36595403-36595403
GRCh38: 11:36573853-36573853
15 RAG1 NM_000448.3(RAG1):c.1264G>T (p.Ala422Ser) SNV Uncertain Significance
1033033 rs568838996 GRCh37: 11:36596118-36596118
GRCh38: 11:36574568-36574568
16 RAG1 NM_000448.3(RAG1):c.2487_2488delinsTT (p.Arg829_Lys830delinsSerTer) INDEL Uncertain Significance
1034220 rs1850837839 GRCh37: 11:36597341-36597342
GRCh38: 11:36575791-36575792
17 RAG1 NM_000448.3(RAG1):c.997T>C (p.Tyr333His) SNV Uncertain Significance
644561 rs1041695603 GRCh37: 11:36595851-36595851
GRCh38: 11:36574301-36574301
18 RAG1 NM_000448.3(RAG1):c.1981_1983del (p.Met661del) DEL Uncertain Significance
961035 rs774103837 GRCh37: 11:36596835-36596837
GRCh38: 11:36575285-36575287
19 RAG1 NM_000448.3(RAG1):c.1064T>C (p.Met355Thr) SNV Uncertain Significance
583401 rs151077440 GRCh37: 11:36595918-36595918
GRCh38: 11:36574368-36574368

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,...

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

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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