MCID: BCL002
MIFTS: 42

B Cell Deficiency

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for B Cell Deficiency

MalaCards integrated aliases for B Cell Deficiency:

Name: B Cell Deficiency 12 15
Immunoglobulin Heavy Chain Deficiency 12 60 74
Immunoglobulin Heavy Chain Deletion 12
B Cell Deficiencies 12
Humoral Immune Defect 74

Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:2115
ICD9CM 36 279.03
ICD10 via Orphanet 35 D80.8
UMLS via Orphanet 75 C0398692
Orphanet 60 ORPHA169110

Summaries for B Cell Deficiency

Disease Ontology : 12 A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly.

MalaCards based summary : B Cell Deficiency, also known as immunoglobulin heavy chain deficiency, is related to agammaglobulinemia, x-linked and agammaglobulinemia. An important gene associated with B Cell Deficiency is IGLL1 (Immunoglobulin Lambda Like Polypeptide 1), and among its related pathways/superpathways are Innate Immune System and Akt Signaling. Affiliated tissues include b cells, t cells and thyroid, and related phenotypes are no effect and Synthetic lethal with MLN4924 (a NAE inhibitor)

Wikipedia : 77 Humoral immune deficiencies are conditions which cause impairment of humoral immunity, which can lead to... more...

Related Diseases for B Cell Deficiency

Diseases related to B Cell Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 agammaglobulinemia, x-linked 31.8 BTK CD40 CD40LG SH2D1A
2 agammaglobulinemia 31.6 BTK CD19 CR2 IGLL1 TEC
3 hyperimmunoglobulin syndrome 30.7 AICDA CD40 CD40LG DOCK8
4 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 29.8 CD19 TRNT1
5 common variable immunodeficiency 26.6 AICDA BTK CD19 CD27 CD40 CD40LG
6 autoimmune lymphoproliferative syndrome, type iii 11.3
7 lambda 5 deficiency 11.0
8 immunoglobulin alpha deficiency 11.0
9 immunoglobulin beta deficiency 11.0
10 b cell linker protein deficiency 11.0
11 primary agammaglobulinemia 10.3 TNFRSF13B TNFRSF13C
12 agammaglobulinemia, non-bruton type 10.3 BTK IGLL1
13 congenital hypogammaglobulinemia 10.2 BTK CD19 IGLL1
14 selective immunoglobulin deficiency disease 10.2 SH2D1A TNFRSF13B
15 immunoglobulin a deficiency 1 10.2 BTK CD40LG TNFRSF13B
16 light fixation seizure syndrome 10.2 CD40 CD40LG
17 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.1 BTK CD40LG SH2D1A
18 waldenstroem's macroglobulinemia 10.1 BTK CD19
19 sulfamethoxazole allergy 10.1 CD40 CD40LG
20 waldenstrom macroglobulinemia 10.0 BTK CD40 CD40LG
21 lymphoproliferative syndrome 10.0 CD27 PRKCD SH2D1A
22 lobomycosis 10.0 CD19 CR2
23 dysgammaglobulinemia 10.0 SH2D1A TNFRSF13B
24 immunodeficiency with hyper-igm, type 4 10.0 AICDA CD40 CD40LG
25 cd40 ligand deficiency 9.9 AICDA CD40 CD40LG
26 bladder lymphoma 9.9 CD19 CR2
27 mature b-cell neoplasm 9.9 CD19 CD40 SH2D1A
28 allergic encephalomyelitis 9.9
29 pfeiffer syndrome 9.9 CD40LG CR2 SH2D1A
30 mantle cell lymphoma 9.8 BTK CD19 CD40
31 immunodeficiency with hyper-igm, type 1 9.8 AICDA BTK CD40 CD40LG
32 cryoglobulinemia 9.8 CD27 CD40LG CR2
33 macroglobulinemia 9.8 BTK CD27 CD40LG TNFRSF13B TNFRSF13C
34 immunodeficiency, common variable, 2 9.8 CD19 CR2 TNFRSF13B TNFRSF13C
35 immunodeficiency with hyper-igm, type 2 9.8 AICDA CD40 CD40LG ICOSLG
36 solitary osseous plasmacytoma 9.8 CD19 CD27
37 graft-versus-host disease 9.8
38 ischemia 9.8
39 chronic graft versus host disease 9.8
40 hemophagocytic lymphohistiocytosis 9.8 CD27 CR2 SH2D1A
41 b-cell lymphomas 9.7 AICDA BTK CD40 NFKB2 TNFRSF13C
42 autoimmune disease 9.6
43 multiple sclerosis 9.6
44 yellow nail syndrome 9.6
45 myasthenia gravis 9.6
46 asthma 9.6
47 autoimmune disease 1 9.6
48 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.6
49 chromosome 16p13.3 deletion syndrome, proximal 9.6
50 malaria 9.6

Graphical network of the top 20 diseases related to B Cell Deficiency:



Diseases related to B Cell Deficiency

Symptoms & Phenotypes for B Cell Deficiency

GenomeRNAi Phenotypes related to B Cell Deficiency according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.23 AICDA BTK CD19 CD27 CD40 CD40LG
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.23 CD40LG NFKB2
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.23 BTK CD27 CD40 CD40LG IGLL1 NFKB2

MGI Mouse Phenotypes related to B Cell Deficiency:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.19 AICDA BTK CD19 CD27 CD40 CD40LG
2 homeostasis/metabolism MP:0005376 9.97 BTK CD19 CD40 CD40LG CR2 IDS
3 immune system MP:0005387 9.86 AICDA BTK CD19 CD27 CD40 CD40LG
4 renal/urinary system MP:0005367 9.23 CD19 CD40 CD40LG CR2 IDS NFKB2

Drugs & Therapeutics for B Cell Deficiency

Search Clinical Trials , NIH Clinical Center for B Cell Deficiency

Genetic Tests for B Cell Deficiency

Anatomical Context for B Cell Deficiency

MalaCards organs/tissues related to B Cell Deficiency:

42
B Cells, T Cells, Thyroid, Nk Cells, Lung, Kidney

Publications for B Cell Deficiency

Articles related to B Cell Deficiency:

(show all 48)
# Title Authors Year
1
B-Cell Deficiency Lowers Blood Pressure in Mice. ( 30636551 )
2019
2
Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency. ( 30758723 )
2019
3
Complete B Cell Deficiency Reduces Allograft Inflammation and Intragraft Macrophages in a Rat Kidney Transplant Model. ( 29215459 )
2018
4
B-cell Deficiency: A De Novo IKZF1 Patient and Review of the Literature. ( 29461212 )
2018
5
Restoration of regulatory B cell deficiency following alemtuzumab therapy in patients with relapsing multiple sclerosis. ( 30373595 )
2018
6
Early B cell developmental impairment with progressive B cell deficiency in NFKB2 mutated CVID disease without autoimmunity. ( 30500415 )
2018
7
Comprehensive validation of T- and B-cell deficiency in rag1-null zebrafish: Implication for the robust innate defense mechanisms of teleosts. ( 28790360 )
2017
8
Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity. ( 27303042 )
2016
9
Progressive severe B cell deficiency in pediatric Rubinstein-Taybi syndrome. ( 27825976 )
2016
10
Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100. ( 25237204 )
2014
11
NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene. ( 25038527 )
2014
12
Additional B-cell deficiency does not affect growth and angiogenesis of ectopic human endometrium in T-cell-deficient endometriosis mouse models during long-term culture. ( 25270508 )
2014
13
B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ. ( 23319571 )
2013
14
A case of IgM deficiency with B cell deficiency detected by ABO discrepancy in a patient with acute osteomyelitis. ( 23667850 )
2013
15
Novel spontaneous deletion of artemis exons 10 and 11 in mice leads to T- and B-cell deficiency. ( 24069355 )
2013
16
T and B cell deficiency associated with yellow nail syndrome. ( 21995335 )
2012
17
NK-cell and B-cell deficiency with a thymic mass. ( 21306273 )
2011
18
More on NK-cell and B-cell deficiency with a thymic mass. ( 21591963 )
2011
19
Chronic B cell deficiency from birth prevents age-related alterations in the B lineage. ( 21810615 )
2011
20
Long-term immune deficiency after allogeneic stem cell transplantation: B-cell deficiency is associated with late infections. ( 20133894 )
2010
21
Effects of combined T- and B-cell deficiency on murine ischemia reperfusion injury. ( 15888022 )
2005
22
Mucosal B cell deficiency in IgA-/- mice abrogates the development of allergic lung inflammation. ( 16002732 )
2005
23
B cell deficiency confers protection from renal ischemia reperfusion injury. ( 12960350 )
2003
24
B-cell deficiency and reduced B-cell reconstitution in hemoglobin-deficit mice. ( 14662329 )
2003
25
B-cell deficiency and type 1 diabetes. ( 11844863 )
2002
26
B-cell deficiency and type 1 diabetes. ( 11858222 )
2002
27
Successful immunosuppressive therapy with cyclosporine A for posthepatitis B-cell deficiency with activated cytoplasmic interferon--gamma-positive T-lymphocytes. ( 11999357 )
2002
28
A case of severe B cell deficiency after allogeneic stem cell transplantation. ( 12235525 )
2002
29
Development of type 1 diabetes despite severe hereditary B-cell deficiency. ( 11586956 )
2001
30
Identification of a novel receptor for B lymphocyte stimulator that is mutated in a mouse strain with severe B cell deficiency. ( 11591325 )
2001
31
B-cell deficiency suppresses vaccine-induced protection against murine filariasis but does not increase the recovery rate for primary infection. ( 11598082 )
2001
32
B-Cell deficiency predisposes mice to disseminating anaerobic infections: protection by passive antibody transfer. ( 10992465 )
2000
33
A quantitative-trait locus controlling peripheral B-cell deficiency maps to mouse Chromosome 15. ( 11003386 )
2000
34
Severe B cell deficiency in mice lacking the tec kinase family members Tec and Btk. ( 11104803 )
2000
35
Microphthalmic mice display a B cell deficiency similar to that seen for mast and NK cells. ( 10586063 )
1999
36
Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia. ( 9419212 )
1998
37
The effect of B cell deficiency on the immune response to acetylcholine receptor and the development of experimental autoimmune myasthenia gravis. ( 9646836 )
1998
38
Severe B cell deficiency and disrupted splenic architecture in transgenic mice expressing the E41K mutated form of Bruton's tyrosine kinase. ( 9736610 )
1998
39
A pronounced thymic B cell deficiency in the spontaneously diabetic BB rat. ( 9164980 )
1997
40
B-cell deficiency does not abrogate development of cutaneous hyperplasia in mice inheriting the defective fibrillin-1 gene. ( 9451590 )
1997
41
The Yaa gene-dependent B-cell deficiency worsens the generalized lymphadenopathy and autoimmunity of C57BL/6-gld male mice. ( 7835973 )
1994
42
The resolution of acute malaria in a definitive model of B cell deficiency, the JHD mouse. ( 8157969 )
1994
43
Distribution and phenotypes of duodenal intraepithelial gamma/delta T cells in patients with various types of primary B-cell deficiency. ( 8103721 )
1993
44
Intestinal intraepithelial gamma/delta T cells in B-cell deficiency. ( 8167738 )
1993
45
B cell deficiency progresses with lineage maturation in nude.X-linked immunodeficient mice B cell deficiency progresses with lineage maturation. ( 1385525 )
1992
46
Experimental model of B-cell deficiency in mice. ( 6966610 )
1980
47
Effect of lipopolysaccharide on immunogenicity and tolerogenicity of HGG in C57BL/6J nude mice: evidence for a possible B cell deficiency. ( 72110 )
1977
48
Variation in T and B cell deficiency in different mouse allogeneic radiation chimeras. ( 4279262 )
1974

Variations for B Cell Deficiency

Expression for B Cell Deficiency

Search GEO for disease gene expression data for B Cell Deficiency.

Pathways for B Cell Deficiency

Pathways related to B Cell Deficiency according to GeneCards Suite gene sharing:

(show all 27)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.9 BTK CD19 CD27 CD40 CD40LG ICOSLG
2
Show member pathways
13.3 BTK CD27 CD40 CD40LG PRKCD TEC
3
Show member pathways
13.22 CD27 CD40 CD40LG NFKB2 PRKCD TEC
4
Show member pathways
13.19 BTK CD27 CD40 CD40LG PRKCD TNFRSF13B
5
Show member pathways
13.08 BTK CD19 CD40 CR2 PRKCD TEC
6
Show member pathways
12.76 BTK CD27 CD40 CD40LG PRKCD TNFRSF13B
7
Show member pathways
12.69 AICDA CD40 CD40LG ICOSLG NFKB2 TNFRSF13B
8
Show member pathways
12.59 CD27 CD40 CD40LG CR2 PRKCD
9
Show member pathways
12.59 CD40 CD40LG NFKB2 PRKCD TNFRSF13C
10
Show member pathways
12.52 BTK CD40 CD40LG ICOSLG NFKB2
11
Show member pathways
12.46 BTK CD19 CR2 NFKB2
12
Show member pathways
12.4 BTK CD27 CD40 CD40LG PRKCD TNFRSF13B
13
Show member pathways
12.3 CR2 NFKB2 TNFRSF13B TNFRSF13C
14
Show member pathways
12.27 CD40 CD40LG ICOSLG PRKCD TEC
15
Show member pathways
12.25 BTK CD19 CR2 PRKCD TEC
16
Show member pathways
12.23 BTK CD19 CD40 PRKCD
17 12.21 AICDA BTK CD19 CD40LG NFKB2 SH2D1A
18 11.97 CD40 CD40LG ICOSLG
19 11.97 CD19 CD40 CD40LG SH2D1A
20 11.91 BTK NFKB2 TEC
21
Show member pathways
11.81 BTK CD19 TEC
22 11.65 BTK CD40 CD40LG NFKB2 TNFRSF13C
23
Show member pathways
11.6 CD40 CD40LG NFKB2 TNFRSF13B
24 11.43 CD27 CD40 CD40LG ICOSLG
25 11.41 BTK NFKB2 TEC
26 11.16 CD19 CD27 CD40 CD40LG CR2 TNFRSF13B
27 10.79 AICDA BTK CD19 CD40 CD40LG IGLL1

GO Terms for B Cell Deficiency

Cellular components related to B Cell Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.77 BTK CD19 CD27 CD40 CD40LG CR2
2 external side of plasma membrane GO:0009897 9.17 CD19 CD27 CD40 CD40LG ICOSLG IGLL1
3 membrane GO:0016020 10 BTK CD19 CD27 CD40 CD40LG CR2

Biological processes related to B Cell Deficiency according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 adaptive immune response GO:0002250 9.8 BTK ICOSLG SH2D1A TEC TNFRSF13B TNFRSF13C
2 T cell receptor signaling pathway GO:0050852 9.75 BTK ICOSLG TEC
3 platelet activation GO:0030168 9.74 CD40 CD40LG PRKCD
4 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.73 BTK CD40 CD40LG NFKB2
5 B cell receptor signaling pathway GO:0050853 9.71 BTK CD19 IGLL1 TEC
6 B cell differentiation GO:0030183 9.69 AICDA CD40LG CR2
7 T cell costimulation GO:0031295 9.65 CD40LG ICOSLG TNFRSF13C
8 regulation of immune response GO:0050776 9.63 CD19 CD40 CD40LG ICOSLG SH2D1A TNFRSF13C
9 positive regulation of interleukin-12 production GO:0032735 9.6 CD40 CD40LG
10 positive regulation of endothelial cell apoptotic process GO:2000353 9.59 CD40 CD40LG
11 B cell homeostasis GO:0001782 9.58 TNFRSF13B TNFRSF13C
12 isotype switching GO:0045190 9.56 AICDA CD40LG
13 B cell proliferation GO:0042100 9.56 CD40 CD40LG CR2 PRKCD
14 immune system process GO:0002376 9.56 BTK CD40 CR2 ICOSLG SH2D1A TEC
15 negative regulation of B cell proliferation GO:0030889 9.55 BTK TNFRSF13B
16 immunoglobulin mediated immune response GO:0016064 9.54 CD27 PRKCD
17 B cell activation GO:0042113 9.54 BTK CD40 ICOSLG
18 positive regulation of B cell differentiation GO:0045579 9.52 BTK CD27
19 negative regulation of T cell apoptotic process GO:0070233 9.49 CD27 DOCK8
20 regulation of immunoglobulin secretion GO:0051023 9.46 CD40 CD40LG
21 tumor necrosis factor-mediated signaling pathway GO:0033209 9.02 CD27 CD40 CD40LG TNFRSF13B TNFRSF13C

Molecular functions related to B Cell Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 non-membrane spanning protein tyrosine kinase activity GO:0004715 8.8 BTK PRKCD TEC

Sources for B Cell Deficiency

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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