BENTA
MCID: BCL010
MIFTS: 51

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 58 54 76 30 6 41
B-Cell Expansion with Nf-Kb and T-Cell Anergy Disease 54 60
Benta Disease 54 60
Lymphocytosis 45 74
Benta 58 76
Persistent Polyclonal B-Cell Lymphocytosis 74

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood


HPO:

33
b-cell expansion with nfkb and t-cell anergy:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

OMIM 58 616452
MeSH 45 D008218
Orphanet 60 ORPHA464336
SNOMED-CT via HPO 70 16294009 263681008 67023009

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

NIH Rare Diseases : 54 BENTA disease (B cellExpansion with NF-κB and T cell Anergy) 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/μl) 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 lymphopenia. 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. Affiliated tissues include b cells, t cells and spleen, and related phenotypes are splenomegaly and recurrent infections

OMIM : 58 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 : 76 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 233)
# Related Disease Score Top Affiliating Genes
1 persistent polyclonal b-cell lymphocytosis 34.6 CARD11 FCER2
2 lymphopenia 32.0 FASLG IL2 IL2RA SELL
3 hemophagocytic lymphohistiocytosis 31.1 B2M CD5 GZMB IL2RA IL2RB
4 thymoma 30.8 CD5 IL2 TRB
5 pure red-cell aplasia 30.7 IL2 IL2RA TRB
6 hairy cell leukemia 30.6 CD5 IL2 IL2RA
7 autoimmune lymphoproliferative syndrome, type v 30.5 CD5 TIA1 TRB
8 lymphocytic leukemia 30.3 BCR CD38 CD5 FCER2 IL2 ZAP70
9 b-cell lymphomas 30.1 CARD11 CD5 FCER2 MS4A1 TIA1
10 pulmonary sarcoidosis 30.0 CCL5 IL2 IL2RA
11 cll/sll 29.9 CD38 CD5 ZAP70
12 t-cell large granular lymphocyte leukemia 29.9 FASLG GZMB IL2
13 sezary's disease 29.8 CD28 IL2 IL2RA TRB
14 cutaneous t cell lymphoma 29.8 GZMB IL2 IL2RA TIA1
15 prolymphocytic leukemia 29.8 CD38 CD5 FCER2 ZAP70
16 tropical spastic paraparesis 29.7 CCL5 IL2 IL2RA
17 human immunodeficiency virus infectious disease 29.7 B2M CCL5 CD38 IL2
18 cryoglobulinemia, familial mixed 29.7 BCR CD5
19 mycosis fungoides 29.5 CD28 GZMB IL2 IL2RA TIA1
20 natural killer cell leukemia 29.5 GZMB TIA1
21 common variable immunodeficiency 29.4 CD28 CD38 IL2 IL2RA MS4A1 SELL
22 leukemia, chronic lymphocytic 29.2 B2M BCR CD38 CD5 FCER2 IL2
23 human immunodeficiency virus type 1 29.2 B2M CCL5 CD28 CD38 IL2
24 hematologic cancer 29.1 BCR CD38 CD5 IL2 IL2RA ZAP70
25 lymphoma, non-hodgkin, familial 27.1 B2M BCR CD38 CD5 FCER2 GZMB
26 diffuse infiltrative lymphocytosis syndrome 12.5
27 chronic nk-cell lymphocytosis 12.5
28 aicardi-goutieres syndrome 11.9
29 handl syndrome 11.8
30 aicardi-goutieres syndrome 1 11.8
31 encephalopathy 11.5
32 chronic lymphoproliferative disorder of natural killer cells 11.2
33 pseudo-torch syndrome 1 11.1
34 aicardi-goutieres syndrome 3 11.1
35 drug reaction with eosinophilia and systemic symptoms 11.1
36 hemophagocytic lymphohistiocytosis, familial, 1 11.0
37 aicardi-goutieres syndrome 2 11.0
38 aicardi-goutieres syndrome 4 11.0
39 aicardi-goutieres syndrome 5 11.0
40 aicardi-goutieres syndrome 6 11.0
41 aicardi-goutieres syndrome 7 11.0
42 zap-70 deficiency 11.0
43 leukemia 10.6
44 leukemia, chronic lymphocytic 2 10.5
45 leukemia, b-cell, chronic 10.5
46 lymphoma 10.4
47 immunodeficiency 11 10.4 CARD11 LOC101927256
48 toxicodendron dermatitis 10.3 IL2 SELL
49 headache 10.3
50 chromosome 13q14 deletion syndrome 10.3 CD38 ZAP70

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:

33
# Description HPO Frequency HPO Source Accession
1 splenomegaly 33 HP:0001744
2 recurrent infections 33 HP:0002719
3 lymphocytosis 33 HP:0100827
4 decreased circulating total igm 33 HP:0002850

Symptoms via clinical synopsis from OMIM:

58
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:

27
# 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.09 B2M BCR CARD11 CCL5 CD28 CD38
2 endocrine/exocrine gland MP:0005379 9.91 B2M CD28 CD38 FASLG IL2 IL2RA
3 immune system MP:0005387 9.89 B2M BCR CARD11 CCL5 CD28 CD38
4 digestive/alimentary MP:0005381 9.87 B2M BCR CD28 FASLG FCER2 IL2
5 integument MP:0010771 9.23 B2M CARD11 CD28 CD5 FASLG IL2RB

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

Search Clinical Trials , 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 30

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:

42
B Cells, T Cells, Spleen, Lung, Bone, Lymph Node, Bone Marrow

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

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

(show all 44)
# Title Authors Year
1
Persistent polyclonal B-cell lymphocytosis: two nuclei and sometimes more. ( 29271126 )
2017
2
Absence of driver mutations in persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes. ( 28679739 )
2017
3
Symptomatic Massive Splenomegaly in Persistent Polyclonal B-cell Lymphocytosis Requiring Splenectomy. ( 26693179 )
2015
4
Modifications in B-Lymphocyte Number and Phenotype in the Course of Pregnancy in a Woman with Persistent Polyclonal B-Cell Lymphocytosis: A Flow Cytometric Study. ( 26490519 )
2015
5
Persistent polyclonal B-cell lymphocytosis: extensively proliferated CD27+IgM+IgD+ memory B cells with a distinctive immunophenotype. ( 24549258 )
2014
6
Persistent Polyclonal B Cell Lymphocytosis B Cells Can Be Activated through CD40-CD154 Interaction. ( 25580126 )
2014
7
Persistent polyclonal B-cell lymphocytosis with splenomegaly: histologic description of 2 cases. ( 23715167 )
2013
8
Histological and immunohistochemical features of the spleen in persistent polyclonal B-cell lymphocytosis closely mimic splenic B-cell lymphoma. ( 22901769 )
2012
9
Persistent polyclonal B-cell lymphocytosis in chronic smokers: more than meets the eye. ( 22670354 )
2012
10
Persistent polyclonal b-cell lymphocytosis: a diagnostic challenge. ( 23190164 )
2012
11
EDTA-dependent lymphoagglutination in persistent polyclonal B-cell lymphocytosis. ( 21770917 )
2011
12
IgM interference in determination of antiphospholipid antibodies and erythrocyte sedimentation rate in persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes. ( 21435190 )
2011
13
Persistent polyclonal B-cell lymphocytosis. ( 22279623 )
2011
14
Histopathological and molecular features of persistent polyclonal B-cell lymphocytosis (PPBL) with progressive splenomegaly. ( 19133977 )
2009
15
Selective defect of anti-pneumococcal IgG in a patient with persistent polyclonal B cell lymphocytosis. ( 19393481 )
2009
16
Expression profiling of persistent polyclonal B-cell lymphocytosis suggests constitutive expression of the AP-1 transcription complex and downregulation of Fas-apoptotic and TGFbeta signalling pathways. ( 18754033 )
2009
17
Long-term follow-up of 111 patients with persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes. ( 18668130 )
2009
18
High incidence of ancestral HLA haplotype 8.1 and monoclonal incomplete DH-JH immunoglobulin heavy chain gene rearrangement in persistent polyclonal B-cell lymphocytosis. ( 18180922 )
2008
19
Combined automated cell and flow cytometric analysis enables recognition of persistent polyclonal B-cell lymphocytosis (PPBL), a study of 25 patients. ( 18587574 )
2008
20
Persistent polyclonal B-cell lymphocytosis: a case report. ( 16988824 )
2006
21
Functional T-cell anergy in a case of persistent polyclonal B-cell lymphocytosis. ( 15979703 )
2005
22
Dysfunction of the Fas apoptotic signaling pathway in persistent polyclonal B-cell lymphocytosis. ( 12604424 )
2003
23
Persistent polyclonal B-cell lymphocytosis. ( 12017755 )
2002
24
Analysis of expressed V(H) genes in persistent polyclonal B cell lymphocytosis reveals absence of selection in CD27+IgM+IgD+ memory B cells. ( 12516560 )
2002
25
No BCL-2 protein over expression but BCL-2/IgH rearrangements in B cells of patients with persistent polyclonal B-cell lymphocytosis. ( 11920254 )
2001
26
Persistent polyclonal B-cell lymphocytosis: further evidence for a genetic disorder associated with B-cell abnormalities. ( 11552996 )
2001
27
Lack of CD40-dependent B-cell proliferation in B lymphocytes isolated from patients with persistent polyclonal B-cell lymphocytosis. ( 11380461 )
2001
28
Familial persistent polyclonal B-cell lymphocytosis. ( 11342368 )
2001
29
Persistent polyclonal B-cell lymphocytosis in a middle-aged, smoking woman with typical morphologic and genetic hallmarks. ( 11532639 )
2001
30
Persistent polyclonal B-cell lymphocytosis is an expansion of functional IgD(+)CD27(+) memory B cells. ( 11529864 )
2001
31
Persistent polyclonal B-cell lymphocytosis--an important differential diagnosis of B-cell chronic lymphocytic leukemia. ( 10901613 )
2000
32
Isochromosome +i(3)(q10) in a new case of persistent polyclonal B-cell lymphocytosis (PPBL) ( 10863981 )
2000
33
Bilobulated circulating lymphocytes in persistent polyclonal B-cell lymphocytosis. ( 10457412 )
1999
34
CD5+ persistent polyclonal B-cell lymphocytosis in a male. ( 10342588 )
1999
35
Distinct chromosome 3 abnormalities in persistent polyclonal B-cell lymphocytosis. ( 10502320 )
1999
36
Large cell lymphoma complicating persistent polyclonal B cell lymphocytosis. ( 9665185 )
1998
37
All patients with persistent polyclonal B cell lymphocytosis present Bcl-2/Ig gene rearrangements. ( 9922047 )
1998
38
Multiple bcl-2/Ig gene rearrangements in persistent polyclonal B-cell lymphocytosis. ( 9207405 )
1997
39
Distribution of the cytogenetic abnormality +i(3)(q10) in persistent polyclonal B-cell lymphocytosis: a FICTION study in three cases. ( 9401061 )
1997
40
Epstein-Barr virus-associated persistent polyclonal B-cell lymphocytosis with a distinct 69-base pair deletion in the LMP1 oncogene. ( 9031611 )
1997
41
Persistent polyclonal B-cell lymphocytosis in identical twins. ( 9029012 )
1997
42
Chronic active Epstein-Barr virus disease in a case of persistent polyclonal B-cell lymphocytosis. ( 7646989 )
1995
43
Role of Epstein-Barr virus and soluble CD21 in persistent polyclonal B-cell lymphocytosis. ( 7646990 )
1995
44
Persistent polyclonal B-cell lymphocytosis. ( 7934138 )
1994

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

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

76
# Symbol AA change Variation ID SNP ID
1 CARD11 p.Gly123Ser VAR_069710 rs387907352
2 CARD11 p.Glu134Gly VAR_069711 rs387907351

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

6 (show top 50) (show all 142)
# Gene Variation Type Significance SNP ID Assembly Location
1 CARD11 NM_032415.5(CARD11): c.368G> A (p.Gly123Asp) single nucleotide variant Pathogenic rs571517554 GRCh37 Chromosome 7, 2984162: 2984162
2 CARD11 NM_032415.5(CARD11): c.368G> A (p.Gly123Asp) single nucleotide variant Pathogenic rs571517554 GRCh38 Chromosome 7, 2944528: 2944528
3 CARD11 NM_032415.5(CARD11): c.146G> A (p.Cys49Tyr) single nucleotide variant Pathogenic rs794729673 GRCh37 Chromosome 7, 2987283: 2987283
4 CARD11 NM_032415.5(CARD11): c.146G> A (p.Cys49Tyr) single nucleotide variant Pathogenic rs794729673 GRCh38 Chromosome 7, 2947649: 2947649
5 CARD11 NM_032415.5(CARD11): c.401A> G (p.Glu134Gly) single nucleotide variant Pathogenic rs387907351 GRCh37 Chromosome 7, 2984129: 2984129
6 CARD11 NM_032415.5(CARD11): c.401A> G (p.Glu134Gly) single nucleotide variant Pathogenic rs387907351 GRCh38 Chromosome 7, 2944495: 2944495
7 CARD11 NM_032415.5(CARD11): c.367G> A (p.Gly123Ser) single nucleotide variant Pathogenic rs387907352 GRCh37 Chromosome 7, 2984163: 2984163
8 CARD11 NM_032415.5(CARD11): c.367G> A (p.Gly123Ser) single nucleotide variant Pathogenic rs387907352 GRCh38 Chromosome 7, 2944529: 2944529
9 CARD11 NM_032415.5(CARD11): c.1590A> C (p.Glu530Asp) single nucleotide variant Benign rs41515445 GRCh37 Chromosome 7, 2969689: 2969689
10 CARD11 NM_032415.5(CARD11): c.1590A> C (p.Glu530Asp) single nucleotide variant Benign rs41515445 GRCh38 Chromosome 7, 2930055: 2930055
11 CARD11 NM_032415.5(CARD11): c.1630A> C (p.Ile544Leu) single nucleotide variant Likely benign rs147687933 GRCh37 Chromosome 7, 2969649: 2969649
12 CARD11 NM_032415.5(CARD11): c.1630A> C (p.Ile544Leu) single nucleotide variant Likely benign rs147687933 GRCh38 Chromosome 7, 2930015: 2930015
13 CARD11 NM_032415.5(CARD11): c.1581C> A (p.His527Gln) single nucleotide variant Likely benign rs74876622 GRCh37 Chromosome 7, 2969698: 2969698
14 CARD11 NM_032415.5(CARD11): c.1581C> A (p.His527Gln) single nucleotide variant Likely benign rs74876622 GRCh38 Chromosome 7, 2930064: 2930064
15 CARD11 NM_032415.5(CARD11): c.1610G> C (p.Ser537Thr) single nucleotide variant Likely benign rs148753096 GRCh37 Chromosome 7, 2969669: 2969669
16 CARD11 NM_032415.5(CARD11): c.1610G> C (p.Ser537Thr) single nucleotide variant Likely benign rs148753096 GRCh38 Chromosome 7, 2930035: 2930035
17 CARD11 NM_032415.5(CARD11): c.2060C> T (p.Ala687Val) single nucleotide variant Likely benign rs41493047 GRCh37 Chromosome 7, 2962848: 2962848
18 CARD11 NM_032415.5(CARD11): c.2060C> T (p.Ala687Val) single nucleotide variant Likely benign rs41493047 GRCh38 Chromosome 7, 2923214: 2923214
19 CARD11 NM_032415.5(CARD11): c.2119C> T (p.Arg707Cys) single nucleotide variant Uncertain significance rs143049136 GRCh37 Chromosome 7, 2962789: 2962789
20 CARD11 NM_032415.5(CARD11): c.2119C> T (p.Arg707Cys) single nucleotide variant Uncertain significance rs143049136 GRCh38 Chromosome 7, 2923155: 2923155
21 CARD11 NM_032415.5(CARD11): c.1975G> A (p.Val659Met) single nucleotide variant Uncertain significance rs78443994 GRCh37 Chromosome 7, 2962933: 2962933
22 CARD11 NM_032415.5(CARD11): c.1975G> A (p.Val659Met) single nucleotide variant Uncertain significance rs78443994 GRCh38 Chromosome 7, 2923299: 2923299
23 CARD11 NM_032415.5(CARD11): c.2641A> G (p.Ser881Gly) single nucleotide variant Uncertain significance rs140097633 GRCh37 Chromosome 7, 2956986: 2956986
24 CARD11 NM_032415.5(CARD11): c.2641A> G (p.Ser881Gly) single nucleotide variant Uncertain significance rs140097633 GRCh38 Chromosome 7, 2917352: 2917352
25 CARD11 NM_032415.5(CARD11): c.3025G> A (p.Val1009Ile) single nucleotide variant Likely benign rs147381531 GRCh37 Chromosome 7, 2951925: 2951925
26 CARD11 NM_032415.5(CARD11): c.3025G> A (p.Val1009Ile) single nucleotide variant Likely benign rs147381531 GRCh38 Chromosome 7, 2912291: 2912291
27 CARD11 NM_032415.5(CARD11): c.3454G> A (p.Asp1152Asn) single nucleotide variant Likely benign rs147422861 GRCh37 Chromosome 7, 2946283: 2946283
28 CARD11 NM_032415.5(CARD11): c.3454G> A (p.Asp1152Asn) single nucleotide variant Likely benign rs147422861 GRCh38 Chromosome 7, 2906649: 2906649
29 CARD11 NM_032415.5(CARD11): c.572A> G (p.Asn191Ser) single nucleotide variant Uncertain significance rs147264763 GRCh37 Chromosome 7, 2983958: 2983958
30 CARD11 NM_032415.5(CARD11): c.572A> G (p.Asn191Ser) single nucleotide variant Uncertain significance rs147264763 GRCh38 Chromosome 7, 2944324: 2944324
31 CARD11 NM_032415.5(CARD11): c.1212G> A (p.Arg404=) single nucleotide variant Benign/Likely benign rs142108678 GRCh37 Chromosome 7, 2976800: 2976800
32 CARD11 NM_032415.5(CARD11): c.1212G> A (p.Arg404=) single nucleotide variant Benign/Likely benign rs142108678 GRCh38 Chromosome 7, 2937166: 2937166
33 CARD11 NM_032415.5(CARD11): c.1440G> A (p.Ser480=) single nucleotide variant Benign rs41396348 GRCh37 Chromosome 7, 2974165: 2974165
34 CARD11 NM_032415.5(CARD11): c.1440G> A (p.Ser480=) single nucleotide variant Benign rs41396348 GRCh38 Chromosome 7, 2934531: 2934531
35 CARD11 NM_032415.5(CARD11): c.1008G> A (p.Leu336=) single nucleotide variant Likely benign rs1554275179 GRCh37 Chromosome 7, 2978322: 2978322
36 CARD11 NM_032415.5(CARD11): c.1008G> A (p.Leu336=) single nucleotide variant Likely benign rs1554275179 GRCh38 Chromosome 7, 2938688: 2938688
37 CARD11 NM_032415.5(CARD11): c.3145-3C> T single nucleotide variant Uncertain significance rs200456391 GRCh37 Chromosome 7, 2949802: 2949802
38 CARD11 NM_032415.5(CARD11): c.3145-3C> T single nucleotide variant Uncertain significance rs200456391 GRCh38 Chromosome 7, 2910168: 2910168
39 CARD11 NM_032415.5(CARD11): c.3019+6C> T single nucleotide variant Benign rs199705831 GRCh37 Chromosome 7, 2952915: 2952915
40 CARD11 NM_032415.5(CARD11): c.3019+6C> T single nucleotide variant Benign rs199705831 GRCh38 Chromosome 7, 2913281: 2913281
41 CARD11 NM_032415.5(CARD11): c.430G> A (p.Ala144Thr) single nucleotide variant Uncertain significance rs1267789041 GRCh37 Chromosome 7, 2984100: 2984100
42 CARD11 NM_032415.5(CARD11): c.430G> A (p.Ala144Thr) single nucleotide variant Uncertain significance rs1267789041 GRCh38 Chromosome 7, 2944466: 2944466
43 CARD11 NM_032415.5(CARD11): c.225G> C (p.Arg75=) single nucleotide variant Benign rs10229368 GRCh37 Chromosome 7, 2985586: 2985586
44 CARD11 NM_032415.5(CARD11): c.225G> C (p.Arg75=) single nucleotide variant Benign rs10229368 GRCh38 Chromosome 7, 2945952: 2945952
45 CARD11 NM_032415.5(CARD11): c.1695C> T (p.Ala565=) single nucleotide variant Benign rs41454944 GRCh37 Chromosome 7, 2968291: 2968291
46 CARD11 NM_032415.5(CARD11): c.1695C> T (p.Ala565=) single nucleotide variant Benign rs41454944 GRCh38 Chromosome 7, 2928657: 2928657
47 CARD11 NM_032415.5(CARD11): c.1260G> A (p.Glu420=) single nucleotide variant Benign rs112171353 GRCh37 Chromosome 7, 2976752: 2976752
48 CARD11 NM_032415.5(CARD11): c.1260G> A (p.Glu420=) single nucleotide variant Benign rs112171353 GRCh38 Chromosome 7, 2937118: 2937118
49 CARD11 NM_032415.5(CARD11): c.945C> G (p.Asp315Glu) single nucleotide variant Uncertain significance rs149430714 GRCh37 Chromosome 7, 2978385: 2978385
50 CARD11 NM_032415.5(CARD11): c.945C> G (p.Asp315Glu) single nucleotide variant Uncertain significance rs149430714 GRCh38 Chromosome 7, 2938751: 2938751

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 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.98 B2M CARD11 CCL5 CD28 FASLG FCER2
2
Show member pathways
13.33 CCL5 CD28 FASLG IL2 IL2RA IL2RB
3
Show member pathways
13.28 B2M CCL5 FASLG FCER2 IL2 IL2RA
4 12.76 BCR FASLG IL2 IL2RA IL2RB
5
Show member pathways
12.76 B2M CARD11 CD28 FASLG GZMB IL2
6
Show member pathways
12.58 CARD11 CD28 IL2 IL2RA TRB ZAP70
7
Show member pathways
12.54 CCL5 CD28 FASLG IL2 IL2RA IL2RB
8
Show member pathways
12.53 CD28 IL2 IL2RA IL2RB TRB ZAP70
9
Show member pathways
12.47 FASLG FCGR3B GZMB IL2 ZAP70
10
Show member pathways
12.37 CARD11 CD28 IL2 TRB ZAP70
11
Show member pathways
12.31 CARD11 CD28 IL2 IL2RA IL2RB ZAP70
12
Show member pathways
11.91 B2M CARD11 CD28 ZAP70
13 11.88 B2M CARD11 CCL5 CD28 CD38 FASLG
14 11.82 CD38 CD5 FCER2 IL2RA MS4A1
15 11.76 GZMB IL2 IL2RA IL2RB
16
Show member pathways
11.75 B2M FASLG GZMB IL2 IL2RA IL2RB
17 11.71 CD38 IL2 MS4A1 SELL
18
Show member pathways
11.67 FASLG IL2 IL2RA
19
Show member pathways
11.65 FASLG IL2 IL2RA IL2RB
20 11.64 CCL5 FCGR3B IL2
21 11.62 CD28 CD38 CD5 IL2 IL2RA IL2RB
22 11.52 CD38 CD5 FCER2 MS4A1
23
Show member pathways
11.52 B2M FASLG GZMB IL2 IL2RA IL2RB
24 11.44 CD28 IL2 IL2RA IL2RB
25 11.24 CD28 IL2 IL2RA IL2RB ZAP70
26 11.21 CD28 IL2 IL2RA
27 11.2 CD28 IL2 TRB ZAP70
28
Show member pathways
11.13 IL2 IL2RA IL2RB

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 integral component of plasma membrane GO:0005887 9.87 CD28 CD5 FASLG FCER2 IL2RB MS4A1
2 cell surface GO:0009986 9.7 B2M CD28 CD38 FASLG IL2RA IL2RB
3 secretory granule membrane GO:0030667 9.54 CD38 FCGR3B SELL
4 external side of plasma membrane GO:0009897 9.28 B2M CD28 CD5 FASLG FCER2 IL2RA
5 immunological synapse GO:0001772 9.26 CARD11 CD28 GZMB ZAP70
6 membrane GO:0016020 10.28 B2M BCR CARD11 CD28 CD38 CD5
7 plasma membrane GO:0005886 10.1 B2M BCR CARD11 CD28 CD38 CD5
8 extracellular exosome GO:0070062 10.03 B2M BCR CARD11 CD38 FASLG FCER2

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.84 CCL5 IL2 IL2RA IL2RB
2 negative regulation of inflammatory response GO:0050728 9.76 BCR IL2 IL2RA
3 T cell costimulation GO:0031295 9.69 CARD11 CD28 CD5
4 T cell activation GO:0042110 9.67 CARD11 CD28 ZAP70
5 positive regulation of B cell proliferation GO:0030890 9.63 CARD11 CD38 IL2
6 cytokine-mediated signaling pathway GO:0019221 9.63 CCL5 FASLG FCER2 IL2 IL2RA IL2RB
7 apoptotic signaling pathway GO:0097190 9.62 CD28 CD38 CD5 FASLG
8 positive regulation of interleukin-2 biosynthetic process GO:0045086 9.58 CARD11 CD28
9 positive regulation of T cell differentiation GO:0045582 9.58 IL2 IL2RA ZAP70
10 negative thymic T cell selection GO:0045060 9.57 CD28 ZAP70
11 positive regulation of alpha-beta T cell proliferation GO:0046641 9.56 CD28 ZAP70
12 immune response GO:0006955 9.56 B2M CCL5 CD28 FASLG FCGR3B IL2
13 positive regulation of isotype switching to IgG isotypes GO:0048304 9.55 CD28 IL2
14 regulation of regulatory T cell differentiation GO:0045589 9.54 CD28 IL2 IL2RA
15 negative regulation of lymphocyte proliferation GO:0050672 9.52 IL2 IL2RA
16 thymic T cell selection GO:0045061 9.48 CARD11 ZAP70
17 regulation of T cell homeostatic proliferation GO:0046013 9.43 IL2 IL2RA
18 interleukin-2-mediated signaling pathway GO:0038110 9.43 IL2 IL2RA IL2RB
19 positive regulation of T cell proliferation GO:0042102 9.02 CARD11 CCL5 CD28 IL2 IL2RA

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 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.43 IL2 IL2RA IL2RB
2 glycosphingolipid binding GO:0043208 9.16 IL2 SELL
3 interleukin-2 binding GO:0019976 8.96 IL2RA IL2RB
4 interleukin-2 receptor activity GO:0004911 8.62 IL2RA IL2RB
5 protein binding GO:0005515 10.22 B2M BCR CARD11 CCL5 CD28 CD5

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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