BENTA
MCID: BCL010
MIFTS: 56

B-Cell Expansion with Nfkb and T-Cell Anergy (BENTA)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for B-Cell Expansion with Nfkb and T-Cell Anergy

MalaCards integrated aliases for B-Cell Expansion with Nfkb and T-Cell Anergy:

Name: B-Cell Expansion with Nfkb and T-Cell Anergy 56 52 73 29 6 39
B-Cell Expansion with Nf-Kb and T-Cell Anergy Disease 52 58
Benta Disease 52 58
Lymphocytosis 43 71
Benta 56 73
Persistent Polyclonal B-Cell Lymphocytosis 71

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood


HPO:

31
b-cell expansion with nfkb and t-cell anergy:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM 56 616452
MeSH 43 D008218
Orphanet 58 ORPHA464336
SNOMED-CT via HPO 68 16294009 263681008 67023009
UMLS 71 C0024282 C1847973

Summaries for B-Cell Expansion with Nfkb and T-Cell Anergy

NIH Rare Diseases : 52 BENTA disease (B cell E xpansion with N F-?B and T cell A nergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/?l) and few memory B cells. Other findings are low levels of IgM in blood and poor antibody responses to specific vaccines. BENTA disease is caused by mutations in the CARD11 gene . There is no established treatment, but some patients have their spleen removed and there is one case of a hematopoietic stem cell transplantation with good results.

MalaCards based summary : B-Cell Expansion with Nfkb and T-Cell Anergy, also known as b-cell expansion with nf-kb and t-cell anergy disease, is related to persistent polyclonal b-cell lymphocytosis and hemophagocytic lymphohistiocytosis. An important gene associated with B-Cell Expansion with Nfkb and T-Cell Anergy is CARD11 (Caspase Recruitment Domain Family Member 11), and among its related pathways/superpathways are Innate Immune System and Akt Signaling. The drugs Arsenic trioxide and rituximab have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and lung, and related phenotypes are splenomegaly and recurrent infections

OMIM : 56 B-cell expansion with NFKB and T-cell anergy is an autosomal dominant disorder characterized by onset in infancy of splenomegaly and polyclonal expansion of B cells, resulting in peripheral lymphocytosis. Affected individuals also show mild immune dysfunction, including some defective antibody responses and T-cell anergy. There may be a predisposition to the development of B-cell malignancy (summary by Snow et al., 2012). (616452)

UniProtKB/Swiss-Prot : 73 B-cell expansion with NFKB and T-cell anergy: An autosomal dominant condition characterized by onset in infancy of splenomegaly and polyclonal expansion of B cells, resulting in peripheral lymphocytosis. Affected individuals also show mild immune dysfunction, including some defective antibody responses and T-cell anergy. There may be a predisposition to the development of B-cell malignancy.

Related Diseases for B-Cell Expansion with Nfkb and T-Cell Anergy

Diseases related to B-Cell Expansion with Nfkb and T-Cell Anergy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 446)
# Related Disease Score Top Affiliating Genes
1 persistent polyclonal b-cell lymphocytosis 34.9 FCER2 CARD11
2 hemophagocytic lymphohistiocytosis 32.1 IL2RA GZMB CD5
3 red cell aplasia 31.0 TRB IL2RA IL2
4 lymphopenia 30.9 ZAP70 SELL IL2RB IL2RA IL2 FASLG
5 pure red-cell aplasia 30.9 TRB IL2RA IL2
6 cll/sll 30.5 ZAP70 CD5 CD38
7 hairy cell leukemia 30.3 IL2RB IL2RA IL2 CD5 CD38
8 cryoglobulinemia, familial mixed 30.3 CD5 BCR
9 virus associated hemophagocytic syndrome 30.2 IL2RB IL2
10 t-cell adult acute lymphocytic leukemia 30.2 TIA1 IL2RA IL2 CD5 CARD11
11 primary cutaneous t-cell lymphoma 30.1 MS4A1 IL2RA
12 diffuse large b-cell lymphoma 30.1 CD5 CD38 CARD11 B2M
13 anemia, autoimmune hemolytic 30.1 ZAP70 IL2 CD5
14 lymphoplasmacytic lymphoma 30.0 ZAP70 MS4A1 CD5 CD38
15 diphtheria 30.0 IL2RB IL2RA IL2
16 pulmonary sarcoidosis 30.0 IL2RA IL2 CCL5
17 lymphadenitis 29.9 IL2RB IL2RA FASLG
18 plasma cell neoplasm 29.8 CD5 CD38 B2M
19 juvenile rheumatoid arthritis 29.8 IL2RB IL2RA IL2
20 t-cell large granular lymphocyte leukemia 29.8 IL2RB IL2RA IL2 GZMB FASLG
21 allergic hypersensitivity disease 29.8 SELL IL2 FCER2 CCL5
22 hepatosplenic t-cell lymphoma 29.7 TIA1 GZMB
23 prolymphocytic leukemia 29.7 ZAP70 MS4A1 IL2RA FCER2 CD5 CD38
24 sjogren syndrome 29.7 IL2RA FCGR3B FASLG B2M
25 lymphoma, hodgkin, classic 29.7 TIA1 MS4A1 IL2RA IL2 GZMB
26 plasmacytoma 29.6 IL2 CD5 CD38 B2M
27 acute t cell leukemia 29.6 TRB FASLG CD5
28 celiac disease 1 29.6 IL2RB IL2RA IL2 GZMB CD28
29 lymphocytic leukemia 29.6 ZAP70 MS4A1 IL2RA IL2 FCER2 CD5
30 b-cell lymphoma 29.5 ZAP70 TIA1 MS4A1 FCER2 CD5 CARD11
31 sarcoidosis 1 29.5 IL2RB IL2RA IL2 CD28 CCL5
32 cutaneous t cell lymphoma 29.4 TRB TIA1 IL2RB IL2RA IL2 GZMB
33 acquired immunodeficiency syndrome 29.3 IL2RB IL2RA IL2 CD38 B2M
34 extrinsic allergic alveolitis 29.3 SELL IL2RA FCER2 CCL5
35 aggressive nk-cell leukemia 29.3 TIA1 GZMB FCGR3B FASLG
36 dermatitis 29.3 IL2 GZMB CCL5 CARD11
37 angioimmunoblastic t-cell lymphoma 29.3 TIA1 IL2RA GZMB CD28
38 graft-versus-host disease 29.2 IL2 GZMB FASLG CD28
39 skin disease 29.2 ZAP70 TIA1 SELL IL2 FCER2 B2M
40 b cell prolymphocytic leukemia 29.2 ZAP70 MS4A1 IL2RA FCER2 CD5 CD38
41 hematologic cancer 29.1 ZAP70 IL2RA IL2 CD5 CD38 BCR
42 sezary's disease 29.1 TRB IL2RB IL2RA IL2 CD5 CD28
43 trypanosomiasis 29.1 IL2 FASLG CCL5
44 mycosis fungoides 29.1 TIA1 IL2RB IL2RA IL2 GZMB CD28
45 aplastic anemia 29.0 TRB IL2RA IL2 FASLG CD28
46 tropical spastic paraparesis 29.0 IL2RB IL2RA IL2 CCL5 B2M
47 lymphoma 28.9 TIA1 MS4A1 IL2RA IL2 GZMB CD5
48 autoimmune lymphoproliferative syndrome 28.8 IL2RA IL2 GZMB FASLG CD28
49 peritonitis 28.7 FCGR3B CCL5 B2M
50 relapsing-remitting multiple sclerosis 28.7 IL2 CD28 CCL5

Graphical network of the top 20 diseases related to B-Cell Expansion with Nfkb and T-Cell Anergy:



Diseases related to B-Cell Expansion with Nfkb and T-Cell Anergy

Symptoms & Phenotypes for B-Cell Expansion with Nfkb and T-Cell Anergy

Human phenotypes related to B-Cell Expansion with Nfkb and T-Cell Anergy:

31
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 recurrent infections 31 HP:0002719
3 lymphocytosis 31 HP:0100827
4 decreased circulating total igm 31 HP:0002850

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Neoplasia:
chronic lymphocytic leukemia, b-cell, susceptibility to

Immunology:
recurrent infections
decreased igm
enlarged lymph nodes
lymphocytosis, polyclonal b-cell
bone marrow shows lymphoid hyperplasia
more

Clinical features from OMIM:

616452

GenomeRNAi Phenotypes related to B-Cell Expansion with Nfkb and T-Cell Anergy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.47 CARD11 CD28 GZMB IL2 IL2RA TIA1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.47 CARD11 CD28 CD38 FASLG GZMB IL2

MGI Mouse Phenotypes related to B-Cell Expansion with Nfkb and T-Cell Anergy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.89 B2M BCR CARD11 CCL5 CD28 CD38
2 endocrine/exocrine gland MP:0005379 9.81 B2M CD28 CD38 FASLG IL2 IL2RA
3 digestive/alimentary MP:0005381 9.8 B2M BCR CD28 FASLG FCER2 IL2
4 immune system MP:0005387 9.55 B2M BCR CARD11 CCL5 CD28 CD38

Drugs & Therapeutics for B-Cell Expansion with Nfkb and T-Cell Anergy

Drugs for B-Cell Expansion with Nfkb and T-Cell Anergy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 88)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Arsenic trioxide Approved, Investigational Phase 3 1327-53-3 518740
2
rituximab Approved Phase 3 174722-31-7 10201696
3 Immunoglobulins Phase 3
4 Antibodies Phase 3
5 Antibodies, Monoclonal Phase 3
6 Antineoplastic Agents, Immunological Phase 3
7 Alkylating Agents Phase 3
8 Bendamustine Hydrochloride Phase 3
9
Aldesleukin Approved Phase 2 110942-02-4, 85898-30-2
10
Dasatinib Approved, Investigational Phase 1, Phase 2 302962-49-8 3062316
11
ofatumumab Approved Phase 2 679818-59-8 6918251
12
Trastuzumab Approved, Investigational Phase 1, Phase 2 180288-69-1 9903
13
Paclitaxel Approved, Vet_approved Phase 1, Phase 2 33069-62-4 36314
14
alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
15
Melphalan Approved Phase 1, Phase 2 148-82-3 4053 460612
16
Busulfan Approved, Investigational Phase 1, Phase 2 55-98-1 2478
17
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
18
Obinutuzumab Approved, Investigational Phase 1, Phase 2 949142-50-1
19
Venetoclax Approved, Investigational Phase 2 1257044-40-8 49846579
20
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492 6473866
21
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
22
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
23
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 50-18-0, 6055-19-2 2907
24
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
25
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
26 Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
27
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
28
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
29
Pentostatin Approved, Investigational Phase 2 53910-25-1 40926 439693
30
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
31
Mesna Approved, Investigational Phase 2 3375-50-6 598
32
Mycophenolic acid Approved Phase 2 24280-93-1 446541
33 Orange Approved Phase 2
34
Panobinostat Approved, Investigational Phase 2 404950-80-7 6918837
35
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
36 Imatinib Mesylate Phase 2 220127-57-1 123596
37 Interleukin-2 Phase 2
38 Analgesics, Non-Narcotic Phase 2
39 Analgesics Phase 2
40 Protein Kinase Inhibitors Phase 1, Phase 2
41 Albumin-Bound Paclitaxel Phase 1, Phase 2
42 Antimitotic Agents Phase 1, Phase 2
43 Calcineurin Inhibitors Phase 1, Phase 2
44 Antiemetics Phase 1, Phase 2
45 Liver Extracts Phase 1, Phase 2
46 Methylprednisolone Acetate Phase 1, Phase 2
47 Gastrointestinal Agents Phase 1, Phase 2
48 Neuroprotective Agents Phase 1, Phase 2
49 Pharmaceutical Solutions Phase 1, Phase 2
50 Autonomic Agents Phase 1, Phase 2

Interventional clinical trials:

(show all 39)
# Name Status NCT ID Phase Drugs
1 In Vivo Effect on Orencia (Abatacept) on the Apoptosis of T Cells, B Cells and Antigen Presenting (APC) Cells in Rheumatoid Arthritis Withdrawn NCT01717846 Phase 4 Group 1 or Orencia treated group
2 Combination of Ibrutinib and As2O3 in the Treatment of CLL Unknown status NCT02757040 Phase 3 Ibrutinib combined with As2O3;ibrutinib
3 Phase III Randomized Study to Investigate the Use of Acalabrutinib in the Treatment of Patients With Early Stage CLL With High Risk of Early Disease Progression Recruiting NCT04178798 Phase 3 Acalabrutinib 100 MG Oral Capsule
4 A Randomized Phase III Study of Bendamustine Plus Rituximab Versus Ibrutinib Plus Rituximab Versus Ibrutinib Alone in Untreated Older Patients (>/= 65 Years of Age) With Chronic Lymphocytic Leukemia (CLL) Active, not recruiting NCT01886872 Phase 3 Bendamustine Hydrochloride;Ibrutinib
5 Multicenter, Open-label, Non-randomized Phase II Trial of Dasatinib in Patients With Chronic Myeloid Leukemia in Chronic Phase (CP-CML) Who Meet Criteria for Late Suboptimal Response After Prior Imatinib Treatment Unknown status NCT01802450 Phase 2 Dasatinib
6 A Multi-Center Adjuvant Trial of Outpatient Moderate-Dose Bolus Interleukin-2 for Renal Cancer Unknown status NCT00003604 Phase 2
7 A Phase I/II Trial of Ruxolitinib in Chronic Lymphocytic Leukemia Patients at Risk for Progression on Ibrutinib Unknown status NCT02912754 Phase 1, Phase 2 ruxolitinib;ibrutinib
8 A Clinical Research Consortium (CRC) Phase II Study of Subcutaneous Campath-1H in Patients With B-Cell Chronic Lymphocytic Leukemia and Residual Disease After Chemotherapy Unknown status NCT00800943 Phase 2
9 Impact of Short Term Lenalidomide on Immune Response to Prevnar 13® in Individuals With Chronic Lymphocytic Leukemia (CLL), Small Lymphocytic Leukemia (SLL), and Monoclonal B Cell Lymphocytosis (MBL) Completed NCT02309515 Phase 2 Lenalidomide
10 Combination of Lenalidomide and Ofatumumab in Patients With Previously Treated Chronic Lymphocytic Leukemia and Small Lymphocytic Lymphoma (CLL/SLL) Completed NCT01002755 Phase 2 Lenalidomide
11 Trial of Immune Reconstitution With Activated T-Cells in Patients With Chronic Lymphocytic Leukemia (CLL) Completed NCT02530515 Phase 2
12 A Phase I/II Trial of Dasatinib in Combination With Trastuzumab and Paclitaxel in the First Line Treatment of Her2-Positive Metastatic Breast Cancer (MBC) Patients Completed NCT01306942 Phase 1, Phase 2 Dasatinib;Trastuzumab;Paclitaxel
13 A Phase I/II Study of Syk Inhibitor Entospletinib (GS-9973) in Combination With Obinutuzumab in Patients With Relapsed/Refractory Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma (CLL/SLL) and B-Cell Malignancies Recruiting NCT03010358 Phase 1, Phase 2 Entospletinib
14 Ibrutinib lead-in Followed by Venetoclax Plus Ibrutinib in Patients With Relapsed/Refractory Chronic Lymphocytic Leukemia. A Multicenter, Open-label, Phase II Trial Recruiting NCT03708003 Phase 2 Ibrutinib;Venetoclax
15 CD34+ Stem Cell Selection for Patients Receiving a Matched or Partially Matched Family or Unrelated Adult Donor Allogeneic Stem Cell Transplant for Malignant Disease Recruiting NCT02061800 Phase 1, Phase 2 Thiotepa;Cyclophosphamide;Alemtuzumab;Tacrolimus;Melphalan;Busulfan;Fludarabine;Methylprednisolone
16 Phase II Trial of Allogeneic Hematopoietic Cell Transplantation for Disorders of T-cell Proliferation and/or Dysregulation Recruiting NCT03663933 Phase 2 Immunosuppression Only Conditioning (IOC);Reduced Intensity Conditioning (RIC);GVHD Prophylaxis
17 Early Intervention Trial of Ibrutinib for Patients With Asymptomatic, High-Risk Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma Active, not recruiting NCT02518555 Phase 2 Ibrutinib
18 Phase II Trial of Oral LBH 589, a Novel Histone Deacetylase (HDAC) Inhibitor, in Relapsed or Refractory Chronic Lymphocytic Leukemia and Mantle Cell Lymphoma Terminated NCT01090973 Phase 2 LBH589
19 A Phase 2 Clinical Trial To Evaluate The Immune Restoration Potential Of Lenalidomide For Patients With CLL-Associated Immunodeficiency Withdrawn NCT02371577 Phase 2 Lenalidomide
20 Treatment of T-Large Granular Lymphocyte (T-LGL) Lymphoproliferative Disorders With Cyclosporine Completed NCT00001533 Phase 1 cyclosporine
21 A Pilot Feasibility Study of Metformin/Ritonavir Combination Treatment in Patients With Relapsed/Refractory Multiple Myeloma or Chronic Lymphocytic Leukemia Active, not recruiting NCT02948283 Phase 1 Metformin Hydrochloride;Ritonavir
22 A Dose Escalation Study of Ibrutinib With Lenalidomide for Relapsed and Refractory Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma Active, not recruiting NCT01886859 Phase 1 Ibrutinib;Lenalidomide
23 Epidemiologic Study of Persistent Polyclonal B-cell Lymphocytosis (PPBL) - Observatory 1990-2012 Completed NCT03296046
24 Study of Biomarkers of Exposure and Effects in Agriculture Completed NCT01139476
25 Phase IV Observational Study in Chronic Lymphocytic Leukemia Patients Receiving Ofatumumab in the European Union Completed NCT01453062 Arzerra
26 Lymphocytic Enteritis and Suspected Coeliac Disease: Double-blind Gluten vs Placebo Rechallenge Completed NCT02472704
27 Long-Term Valcyte Therapy in Transplant Patients and the Development of Ganciclovir Resistant CMV Completed NCT00225394
28 Genetic Epidemiology of Lymphoproliferative Disorders Recruiting NCT00626496
29 A Study of the Kinetics of Lymphoid Cells in Patients With Monoclonal B-Cell Lymphocytosis (MBL), Chronic Lymphocytic Leukemia (CLL) or Small Lymphocytic Lymphoma (SLL), Mantle Cell Lymphoma (MCL) and Healthy Volunteers. Recruiting NCT01117142
30 Natural History Study of Monoclonal B Cell Lymphocytosis (MBL), Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma(CLL/SLL), Lmphoplasmacytic Lymphoma(LPL)/Waldenstrom Macroglobulinemia (WM), and Splenic Marginal Zone Lymphoma(SMZL) Recruiting NCT00923507
31 Oxford Pre-cancerous Lymphoproliferative Disorders: Analysis and Interception Study Recruiting NCT04023747
32 CD34+ Stem Cell Selection for Patients Receiving a Matched or Partially Matched Family or Unrelated Adult Donor Allogeneic Stem Cell Transplantation for Non-Malignant Disease Recruiting NCT01966367 Early Phase 1
33 Antiendomysium Antibodies Assay in the Culture Medium of Intestinal Mucosa: an Accurate Method for Celiac Disease Diagnosis in Patients With Weakly Positive Serum Anti-transglutaminase Antibodies. Recruiting NCT02242123
34 Investigation of the Natural Progression of Clonal Hematopoiesis of Indeterminate Potential and Clonal Cytopenia of Undetermined Significance Recruiting NCT04102423
35 Study of Precursor Hematological Malignancies to Assess the Relationship Between Molecular Events of Progression and Clinical Outcome Recruiting NCT02269592
36 Diagnostic Significance of Positive Anti-endomysium Antibodies in the Culture Medium of the Intestinal Biopsies in Not-Celiac Wheat Sensitivity (NCWS) Recruiting NCT02203201
37 B-Cell Hematologic Malignancy Vaccination Registry Enrolling by invitation NCT02298816
38 Mechanistically-based Optimization of UV Radiation Therapy in Psoriasis Terminated NCT00470392 Imiquimod;Clobetasol
39 Clinical Studies of Kikuchi's Disease Withdrawn NCT00172445

Search NIH Clinical Center for B-Cell Expansion with Nfkb and T-Cell Anergy

Cochrane evidence based reviews: lymphocytosis

Genetic Tests for B-Cell Expansion with Nfkb and T-Cell Anergy

Genetic tests related to B-Cell Expansion with Nfkb and T-Cell Anergy:

# Genetic test Affiliating Genes
1 B-Cell Expansion with Nfkb and T-Cell Anergy 29 CARD11

Anatomical Context for B-Cell Expansion with Nfkb and T-Cell Anergy

MalaCards organs/tissues related to B-Cell Expansion with Nfkb and T-Cell Anergy:

40
T Cells, B Cells, Lung, Spleen, Bone, Bone Marrow, Myeloid

Publications for B-Cell Expansion with Nfkb and T-Cell Anergy

Articles related to B-Cell Expansion with Nfkb and T-Cell Anergy:

(show top 50) (show all 75)
# Title Authors PMID Year
1
Germline CARD11 Mutation in a Patient with Severe Congenital B Cell Lymphocytosis. 61 56 6
25352053 2015
2
Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation. 56 6
25930198 2015
3
Congenital B cell lymphocytosis explained by novel germline CARD11 mutations. 56 6
23129749 2012
4
Oncogenic CARD11 mutations in human diffuse large B cell lymphoma. 56 6
18323416 2008
5
Congenital lymphoid hyperplasia with persistent hyperlymphocytosis. 56
5540480 1971
6
A Novel, Heterozygous Three Base-Pair Deletion in CARD11 Results in B Cell Expansion with NF-κB and T Cell Anergy Disease. 61
31897776 2020
7
Pathogenic CARD11 mutations affect B cell development and differentiation through a noncanonical pathway. 61
31784498 2019
8
Impact of Land-use Change on Vertical Soil Bacterial Communities in Sabah. 61
28779295 2018
9
Impaired Control of Epstein-Barr Virus Infection in B-Cell Expansion with NF-κB and T-Cell Anergy Disease. 61
29472930 2018
10
A Unique Heterozygous CARD11 Mutation Combines Pathogenic Features of Both Gain- and Loss-of-Function Patients in a Four-Generation Family. 61
30619304 2018
11
Clinical, Immunological, and Molecular Findings in Four Cases of B Cell Expansion With NF-κB and T Cell Anergy Disease for the First Time From India. 61
29963038 2018
12
Population dynamics, antibiotics resistance and biofilm formation of Aeromonas and Vibrio species isolated from aquatic sources in Northern Malaysia. 61
28062284 2017
13
Intrinsic Plasma Cell Differentiation Defects in B Cell Expansion with NF-κB and T Cell Anergy Patient B Cells. 61
28824638 2017
14
Role of the CARMA1/BCL10/MALT1 complex in lymphoid malignancies. 61
27135977 2016
15
Radiomodifying and antitoxic effect of natural polymineral substances on the viability of the cell line L929 under the combined exposure to ionizing radiation and ions of heavy metals. 61
26695924 2015
16
Gain-of-function mutations and immunodeficiency: at a loss for proper tuning of lymphocyte signaling. 61
26406182 2015
17
Temporal association of large granular lymphocytosis, neutropenia, proviral load, and FasL mRNA in cats with acute feline immunodeficiency virus infection. 54
19896217 2010
18
[Immunotherapy in radical surgery of colorectal carcinoma]. 54
18019635 2007
19
A phase I clinical trial of the hu14.18-IL2 (EMD 273063) as a treatment for children with refractory or recurrent neuroblastoma and melanoma: a study of the Children's Oncology Group. 54
16551859 2006
20
An unusual case of systemic mastocytosis associated with chronic lymphocytic leukaemia (SM-CLL). 54
16505276 2006
21
Cancer chemotherapy-induced lymphocytosis: a revolutionary discovery in the medical oncology. 54
18088552 2006
22
Significance of zeta-associated protein (ZAP-70) and CD38 expression in chronic lymphocytic leukemia. 54
18689273 2006
23
Idiopathic pure red cell aplasia: first report on CD8 positive lymphocytosis in bone marrow biopsy sections. 54
16189165 2005
24
High-dose continuous infusion plus pulse interleukin-2 and famotidine in metastatic kidney cancer. 54
15778577 2005
25
High-dose continuous infusion plus pulse interleukin-2 and famotidine in melanoma. 54
15665626 2004
26
Translocation of the B cell receptor to lipid rafts is inhibited in B cells from BLV-infected, persistent lymphocytosis cattle. 54
14592766 2003
27
Lymphocyte counts independently predict overall survival in advanced cancer patients: a biomarker for IL-2 immunotherapy. 54
12973028 2003
28
Increased serum levels of matrix metalloproteinase-9 predict clinical outcome of patients with early B-cell chronic lymphocytic leukaemia. 54
12756019 2003
29
Complete remission of tumour with interleukin 2 therapy in a patient with non-Hodgkin's lymphoma post allogeneic bone marrow transplant associated with polyclonal T-cell bone marrow lymphocytosis. 54
12580972 2003
30
[Characteristics of cellular immunity in children with acute viral hepatitis A]. 54
14708438 2003
31
Neuroimmunotherapy of untreatable metastatic solid tumors with subcutaneous low-dose interleukin-2, melatonin and naltrexone: modulation of interleukin-2-induced antitumor immunity by blocking the opioid system. 54
12195238 2002
32
Factors associated with response to high-dose interleukin-2 in patients with metastatic melanoma. 54
11481353 2001
33
Immunotherapy (recombinant interleukin 2), hormone therapy (medroxyprogesterone acetate) and antioxidant agents as combined maintenance treatment of responders to previous chemotherapy. 54
11172608 2001
34
Frequently relapsing Crohn's disease is characterized by persistent elevation in interleukin-6 and soluble interleukin-2 receptor serum levels during remission. 54
11008719 2000
35
Marked increase in L-selectin-negative T cells in neonatal pertussis. The lymphocytosis explained? 54
10884797 2000
36
Modulation of anticancer cytokines IL-2 and IL-12 by melatonin and the other pineal indoles 5-methoxytryptamine and 5-methoxytryptophol in the treatment of human neoplasms. 54
11268384 2000
37
Increased serum levels of vascular endothelial growth factor predict risk of progression in early B-cell chronic lymphocytic leukaemia. 54
10583266 1999
38
Pretreatment serum markers and lymphocyte response to interleukin-2 therapy. 54
10408846 1999
39
Immunological effects of interleukin 12 administered by bolus intravenous injection to patients with cancer. 54
9918197 1999
40
[Mantle cell lymphoma as a diagnostic and therapeutic problem]. 54
10422528 1999
41
Durability of complete responses in patients with metastatic cancer treated with high-dose interleukin-2: identification of the antigens mediating response. 54
9742914 1998
42
Activated peripheral blood mononuclear cells from patients receiving subcutaneous interleukin-2 following autologous stem cell transplantation prolong survival of SCID mice bearing human lymphoma. 54
9707028 1998
43
B-lymphocyte proliferation during bovine leukemia virus-induced persistent lymphocytosis is enhanced by T-lymphocyte-derived interleukin-2. 54
9525643 1998
44
Expression of RANTES by bronchoalveolar lavage cells in nonsmoking patients with interstitial lung diseases. 54
9533940 1998
45
Induction of clinical remission in T-large granular lymphocyte leukemia with cyclosporin A, monitored by use of immunophenotyping with Vbeta antibodies. 54
9519776 1998
46
Continuous interleukin-2 infusion combined with cyclophosphamide- based combination chemotherapy in the treatment of hemato-oncological malignancies. Results of a phase I-II study. 54
9792934 1998
47
Recall response to cytomegalovirus in allograft recipients: mobilization of CD57+, CD28+ cells before expansion of CD57+, CD28- cells within the CD8+ T lymphocyte compartment. 54
9075840 1997
48
Beryllium induces IL-2 and IFN-gamma in berylliosis. 54
8977230 1997
49
High-dose systemic interleukin-2 therapy in stage IV neuroblastoma for one year after autologous bone marrow transplantation: pilot study. 54
8888813 1996
50
Influence of interleukin-2 regimens on circulating populations of lymphocytes after adoptive transfer of anti-CD3-stimulated T cells: results from a phase I trial in cancer patients. 54
8877723 1996

Variations for B-Cell Expansion with Nfkb and T-Cell Anergy

ClinVar genetic disease variations for B-Cell Expansion with Nfkb and T-Cell Anergy:

6 (show top 50) (show all 83) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CARD11 NM_032415.6(CARD11):c.2509C>T (p.Arg837Ter)SNV Pathogenic 540976 rs1554271741 7:2959007-2959007 7:2919373-2919373
2 CARD11 NM_032415.6(CARD11):c.368G>A (p.Gly123Asp)SNV Pathogenic 183144 rs571517554 7:2984162-2984162 7:2944528-2944528
3 CARD11 NM_032415.6(CARD11):c.146G>A (p.Cys49Tyr)SNV Pathogenic 203461 rs794729673 7:2987283-2987283 7:2947649-2947649
4 CARD11 NM_032415.6(CARD11):c.401A>G (p.Glu134Gly)SNV Pathogenic 48647 rs387907351 7:2984129-2984129 7:2944495-2944495
5 CARD11 NM_032415.6(CARD11):c.367G>A (p.Gly123Ser)SNV Pathogenic 48648 rs387907352 7:2984163-2984163 7:2944529-2944529
6 CARD11 NM_032415.6(CARD11):c.3145-3C>TSNV Conflicting interpretations of pathogenicity 473934 rs200456391 7:2949802-2949802 7:2910168-2910168
7 CARD11 NM_032415.6(CARD11):c.88C>T (p.Arg30Trp)SNV Conflicting interpretations of pathogenicity 473938 rs145474800 7:2987341-2987341 7:2947707-2947707
8 CARD11 NM_032415.6(CARD11):c.3063G>C (p.Glu1021Asp)SNV Uncertain significance 473933 rs375727923 7:2951887-2951887 7:2912253-2912253
9 CARD11 NM_032415.6(CARD11):c.3303C>T (p.Arg1101=)SNV Uncertain significance 540971 rs764369378 7:2946434-2946434 7:2906800-2906800
10 CARD11 NM_032415.6(CARD11):c.1984C>A (p.Pro662Thr)SNV Uncertain significance 540975 rs141482196 7:2962924-2962924 7:2923290-2923290
11 CARD11 NM_032415.6(CARD11):c.1807+3A>GSNV Uncertain significance 540969 rs41368548 7:2966370-2966370 7:2926736-2926736
12 CARD11 NM_032415.6(CARD11):c.1782C>T (p.Gly594=)SNV Uncertain significance 540978 rs1463082614 7:2966398-2966398 7:2926764-2926764
13 CARD11 NM_032415.6(CARD11):c.140G>A (p.Arg47His)SNV Uncertain significance 540972 rs765680532 7:2987289-2987289 7:2947655-2947655
14 CARD11 NM_032415.6(CARD11):c.2801C>T (p.Ser934Leu)SNV Uncertain significance 540974 rs775400791 7:2954909-2954909 7:2915275-2915275
15 CARD11 NM_032415.6(CARD11):c.430G>A (p.Ala144Thr)SNV Uncertain significance 473937 rs1267789041 7:2984100-2984100 7:2944466-2944466
16 CARD11 NM_032415.6(CARD11):c.945C>G (p.Asp315Glu)SNV Uncertain significance 473940 rs149430714 7:2978385-2978385 7:2938751-2938751
17 CARD11 NM_032415.6(CARD11):c.388T>A (p.Phe130Ile)SNV Uncertain significance 473936 rs1554276147 7:2984142-2984142 7:2944508-2944508
18 CARD11 NM_032415.6(CARD11):c.89G>A (p.Arg30Gln)SNV Uncertain significance 473939 rs1554276653 7:2987340-2987340 7:2947706-2947706
19 CARD11 NM_032415.6(CARD11):c.3095A>G (p.Asn1032Ser)SNV Uncertain significance 540973 rs759214987 7:2951855-2951855 7:2912221-2912221
20 CARD11 NM_032415.6(CARD11):c.2119C>T (p.Arg707Cys)SNV Uncertain significance 133792 rs143049136 7:2962789-2962789 7:2923155-2923155
21 CARD11 NM_032415.6(CARD11):c.1975G>A (p.Val659Met)SNV Uncertain significance 133793 rs78443994 7:2962933-2962933 7:2923299-2923299
22 CARD11 NM_032415.6(CARD11):c.2641A>G (p.Ser881Gly)SNV Uncertain significance 133799 rs140097633 7:2956986-2956986 7:2917352-2917352
23 CARD11 NM_032415.6(CARD11):c.3139G>A (p.Ala1047Thr)SNV Uncertain significance 133802 rs146334064 7:2951811-2951811 7:2912177-2912177
24 CARD11 NM_032415.6(CARD11):c.572A>G (p.Asn191Ser)SNV Uncertain significance 133804 rs147264763 7:2983958-2983958 7:2944324-2944324
25 CARD11 NM_032415.6(CARD11):c.1808-9C>ASNV Uncertain significance 540970 rs375872191 7:2964008-2964008 7:2924374-2924374
26 CARD11 NM_032415.6(CARD11):c.193A>G (p.Met65Val)SNV Uncertain significance 540968 rs1554276629 7:2987236-2987236 7:2947602-2947602
27 CARD11 NM_032415.6(CARD11):c.1136G>A (p.Arg379Gln)SNV Uncertain significance 562203 rs751008087 7:2977548-2977548 7:2937914-2937914
28 CARD11 NM_032415.6(CARD11):c.3260+5G>ASNV Uncertain significance 575225 rs765125933 7:2949679-2949679 7:2910045-2910045
29 CARD11 NM_032415.6(CARD11):c.2621C>T (p.Pro874Leu)SNV Uncertain significance 576619 rs1175860108 7:2957006-2957006 7:2917372-2917372
30 CARD11 NM_032415.6(CARD11):c.1535C>G (p.Ser512Cys)SNV Uncertain significance 575226 rs1562488034 7:2972204-2972204 7:2932570-2932570
31 CARD11 NM_032415.6(CARD11):c.3101T>A (p.Phe1034Tyr)SNV Uncertain significance 580125 rs1178617871 7:2951849-2951849 7:2912215-2912215
32 CARD11 NM_032415.6(CARD11):c.2735G>A (p.Arg912Gln)SNV Uncertain significance 571975 rs368119340 7:2954975-2954975 7:2915341-2915341
33 CARD11 NM_032415.6(CARD11):c.2449G>A (p.Ala817Thr)SNV Uncertain significance 581096 rs376539147 7:2959067-2959067 7:2919433-2919433
34 CARD11 NM_032415.6(CARD11):c.1810G>A (p.Asp604Asn)SNV Uncertain significance 572363 rs1562484010 7:2963997-2963997 7:2924363-2924363
35 CARD11 NM_032415.6(CARD11):c.1316C>T (p.Ser439Phe)SNV Uncertain significance 569943 rs760856731 7:2976696-2976696 7:2937062-2937062
36 CARD11 NM_032415.6(CARD11):c.150G>C (p.Lys50Asn)SNV Uncertain significance 580274 rs1282104067 7:2987279-2987279 7:2947645-2947645
37 CARD11 NM_032415.6(CARD11):c.2553C>G (p.His851Gln)SNV Uncertain significance 580772 rs1562480665 7:2958179-2958179 7:2918545-2918545
38 CARD11 NM_032415.6(CARD11):c.427A>T (p.Lys143Ter)SNV Uncertain significance 577246 rs1562494844 7:2984103-2984103 7:2944469-2944469
39 CARD11 NM_032415.6(CARD11):c.392T>G (p.Leu131Arg)SNV Uncertain significance 573551 rs1562494873 7:2984138-2984138 7:2944504-2944504
40 CARD11 NM_032415.6(CARD11):c.3107G>A (p.Cys1036Tyr)SNV Uncertain significance 582000 rs1562476878 7:2951843-2951843 7:2912209-2912209
41 CARD11 NM_032415.6(CARD11):c.1223G>A (p.Arg408His)SNV Uncertain significance 576322 rs79513324 7:2976789-2976789 7:2937155-2937155
42 CARD11 NM_032415.6(CARD11):c.1202A>T (p.Asp401Val)SNV Uncertain significance 572213 rs1562490891 7:2976810-2976810 7:2937176-2937176
43 CARD11 NM_032415.6(CARD11):c.975C>A (p.Asn325Lys)SNV Uncertain significance 575880 rs761421227 7:2978355-2978355 7:2938721-2938721
44 CARD11 NM_032415.6(CARD11):c.491A>C (p.Lys164Thr)SNV Uncertain significance 578452 rs1562494757 7:2984039-2984039 7:2944405-2944405
45 CARD11 NM_032415.6(CARD11):c.1143+10C>GSNV Uncertain significance 626072 rs1300600302 7:2977531-2977531 7:2937897-2937897
46 CARD11 NM_032415.6(CARD11):c.781C>T (p.Pro261Ser)SNV Uncertain significance 626073 rs1562492241 7:2979466-2979466 7:2939832-2939832
47 CARD11 NM_032415.6(CARD11):c.3431G>A (p.Arg1144His)SNV Uncertain significance 644024 7:2946306-2946306 7:2906672-2906672
48 CARD11 NM_032415.6(CARD11):c.3400G>A (p.Val1134Ile)SNV Uncertain significance 661119 7:2946337-2946337 7:2906703-2906703
49 CARD11 NM_032415.6(CARD11):c.3398G>A (p.Arg1133His)SNV Uncertain significance 657094 7:2946339-2946339 7:2906705-2906705
50 CARD11 NM_032415.6(CARD11):c.3205A>G (p.Ile1069Val)SNV Uncertain significance 658944 7:2949739-2949739 7:2910105-2910105

UniProtKB/Swiss-Prot genetic disease variations for B-Cell Expansion with Nfkb and T-Cell Anergy:

73
# Symbol AA change Variation ID SNP ID
1 CARD11 p.Gly123Ser VAR_069710 rs387907352
2 CARD11 p.Glu134Gly VAR_069711 rs387907351

Expression for B-Cell Expansion with Nfkb and T-Cell Anergy

Search GEO for disease gene expression data for B-Cell Expansion with Nfkb and T-Cell Anergy.

Pathways for B-Cell Expansion with Nfkb and T-Cell Anergy

Pathways related to B-Cell Expansion with Nfkb and T-Cell Anergy according to GeneCards Suite gene sharing:

(show all 31)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.98 ZAP70 SELL IL2RB IL2RA IL2 FCGR3B
2
Show member pathways
13.34 ZAP70 IL2RB IL2RA IL2 FASLG CD28
3
Show member pathways
13.29 IL2RB IL2RA IL2 FCER2 FASLG CCL5
4
Show member pathways
12.8 IL2RA IL2 GZMB FASLG CD28 B2M
5 12.77 IL2RB IL2RA IL2 FASLG BCR
6
Show member pathways
12.68 IL2RB IL2RA IL2 FCER2 FASLG CD28
7
Show member pathways
12.59 ZAP70 TRB IL2RA IL2 CD28 CARD11
8
Show member pathways
12.54 ZAP70 TRB IL2 CD28 CARD11
9
Show member pathways
12.53 ZAP70 TRB IL2RB IL2RA IL2 CD28
10
Show member pathways
12.47 ZAP70 IL2 GZMB FCGR3B FASLG
11
Show member pathways
12.31 ZAP70 IL2RB IL2RA IL2 CD28 CARD11
12 12.26 IL2RB IL2RA IL2 B2M
13
Show member pathways
12.25 IL2RB IL2RA IL2 CCL5
14
Show member pathways
11.96 ZAP70 TRB IL2
15
Show member pathways
11.9 ZAP70 CD28 CARD11 B2M
16 11.88 ZAP70 IL2RB IL2RA IL2 GZMB FASLG
17 11.83 MS4A1 IL2RA FCER2 CD5 CD38
18 11.75 IL2RB IL2RA IL2 GZMB
19
Show member pathways
11.75 TRB IL2RB IL2RA IL2 GZMB FASLG
20 11.71 SELL MS4A1 IL2 CD38
21
Show member pathways
11.68 IL2RA IL2 FASLG
22 11.65 IL2 FCGR3B CCL5
23
Show member pathways
11.65 IL2RB IL2RA IL2 FASLG
24 11.62 SELL MS4A1 IL2RB IL2RA IL2 CD5
25 11.52 MS4A1 FCER2 CD5 CD38
26
Show member pathways
11.52 IL2RB IL2RA IL2 GZMB FASLG B2M
27 11.44 IL2RB IL2RA IL2 CD28
28 11.24 ZAP70 IL2RB IL2RA IL2 CD28
29 11.2 IL2RA IL2 CD28
30 11.2 ZAP70 TRB IL2 CD28
31
Show member pathways
11.14 IL2RB IL2RA IL2

GO Terms for B-Cell Expansion with Nfkb and T-Cell Anergy

Cellular components related to B-Cell Expansion with Nfkb and T-Cell Anergy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.31 ZAP70 SELL MS4A1 IL2RB IL2RA GZMB
2 plasma membrane GO:0005886 10.17 ZAP70 SELL MS4A1 IL2RB IL2RA FCGR3B
3 integral component of plasma membrane GO:0005887 9.95 SELL MS4A1 IL2RB FCER2 FASLG CD5
4 cell surface GO:0009986 9.7 MS4A1 IL2RB IL2RA FASLG CD38 CD28
5 secretory granule membrane GO:0030667 9.54 SELL FCGR3B CD38
6 interleukin-2 receptor complex GO:0005893 9.26 IL2RB IL2RA
7 immunological synapse GO:0001772 9.26 ZAP70 GZMB CD28 CARD11
8 external side of plasma membrane GO:0009897 9.23 SELL MS4A1 IL2RB IL2RA FCER2 FASLG

Biological processes related to B-Cell Expansion with Nfkb and T-Cell Anergy according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.87 IL2RB IL2RA IL2 CCL5
2 T cell costimulation GO:0031295 9.69 CD5 CD28 CARD11
3 T cell activation GO:0042110 9.67 ZAP70 CD28 CARD11
4 positive regulation of B cell proliferation GO:0030890 9.63 IL2 CD38 CARD11
5 cytokine-mediated signaling pathway GO:0019221 9.63 IL2RB IL2RA IL2 FCER2 FASLG CCL5
6 apoptotic signaling pathway GO:0097190 9.62 FASLG CD5 CD38 CD28
7 positive regulation of interleukin-2 biosynthetic process GO:0045086 9.58 CD28 CARD11
8 positive regulation of T cell differentiation GO:0045582 9.58 ZAP70 IL2RA IL2
9 negative thymic T cell selection GO:0045060 9.56 ZAP70 CD28
10 immune response GO:0006955 9.56 ZAP70 IL2RA IL2 FCGR3B FASLG CD28
11 positive regulation of isotype switching to IgG isotypes GO:0048304 9.55 IL2 CD28
12 positive regulation of alpha-beta T cell proliferation GO:0046641 9.54 ZAP70 CD28
13 regulation of regulatory T cell differentiation GO:0045589 9.54 IL2RA IL2 CD28
14 negative regulation of lymphocyte proliferation GO:0050672 9.52 IL2RA IL2
15 thymic T cell selection GO:0045061 9.48 ZAP70 CARD11
16 regulation of T cell homeostatic proliferation GO:0046013 9.43 IL2RA IL2
17 interleukin-2-mediated signaling pathway GO:0038110 9.43 IL2RB IL2RA IL2
18 positive regulation of T cell proliferation GO:0042102 9.02 IL2RA IL2 CD28 CCL5 CARD11

Molecular functions related to B-Cell Expansion with Nfkb and T-Cell Anergy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glycosphingolipid binding GO:0043208 9.16 SELL IL2
2 interleukin-2 binding GO:0019976 8.96 IL2RB IL2RA
3 interleukin-2 receptor activity GO:0004911 8.62 IL2RB IL2RA

Sources for B-Cell Expansion with Nfkb and T-Cell Anergy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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