MCID: BCL002
MIFTS: 43

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 59 73
Immunoglobulin Heavy Chain Deletion 12
B Cell Deficiencies 12
Humoral Immune Defect 73

Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:2115
ICD9CM 35 279.03
Orphanet 59 ORPHA169110
UMLS via Orphanet 74 C0398692
ICD10 via Orphanet 34 D80.8

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 and agammaglobulinemia, x-linked. 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 PEDF Induced Signaling. Affiliated tissues include b cells, t cells and nk cells, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

Wikipedia : 76 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 76)
# Related Disease Score Top Affiliating Genes
1 agammaglobulinemia 31.9 BTK CD19 CR2 IGLL1
2 agammaglobulinemia, x-linked 31.9 BTK CD40 CD40LG SH2D1A
3 immunoglobulin alpha deficiency 31.5 CD40LG TGM2 TNFRSF13B
4 common variable immunodeficiency 28.0 AICDA BTK CD19 CD27 CD40 CD40LG
5 autoimmune lymphoproliferative syndrome, type iii 11.0
6 lambda 5 deficiency 11.0
7 b cell linker protein deficiency 11.0
8 primary agammaglobulinemia 10.2 TNFRSF13B TNFRSF13C
9 agammaglobulinemia, non-bruton type 10.2 BTK IGLL1
10 erythema infectiosum 10.2 CD40LG TLR9
11 congenital hypogammaglobulinemia 10.2 BTK CD19 IGLL1
12 immunoglobulin a deficiency 1 10.1 BTK CD40LG TNFRSF13B
13 light fixation seizure syndrome 10.1 CD40 CD40LG
14 selective immunoglobulin deficiency disease 10.1 SH2D1A TNFRSF13B
15 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.1 BTK CD40LG SH2D1A
16 isolated growth hormone deficiency type iii 10.1 BTK KMT2D
17 ocular toxoplasmosis 10.1 CD40LG TLR9
18 autoimmune disease of musculoskeletal system 10.1 CD19 CD40LG TLR9
19 lobomycosis 10.1 CD19 CR2
20 lymphoproliferative syndrome 10.1 CD27 PRKCD SH2D1A
21 sulfamethoxazole allergy 10.1 CD40 CD40LG
22 toxoplasmosis 10.0 CD40 CD40LG TLR9
23 dysgammaglobulinemia 10.0 SH2D1A TNFRSF13B
24 immunodeficiency with hyper-igm, type 4 10.0 AICDA CD40 CD40LG
25 cd40 ligand deficiency 10.0 AICDA CD40 CD40LG
26 immunodeficiency with hyper-igm, type 3 10.0 AICDA CD40 CD40LG
27 immunodeficiency with hyper-igm, type 2 10.0 AICDA CD40 CD40LG
28 bladder lymphoma 10.0 CD19 CR2
29 waldenstroem's macroglobulinemia 10.0 BTK CD19 KMT2D
30 mantle cell lymphoma 10.0 BTK CD19 CD40
31 cryoglobulinemia 10.0 CD27 CD40LG CR2
32 immunodeficiency with hyper-igm, type 1 9.9 AICDA BTK CD40 CD40LG
33 immunodeficiency, common variable, 2 9.9 CD19 CR2 TNFRSF13B TNFRSF13C
34 mature b-cell neoplasm 9.9 CD19 CD40 SH2D1A TLR9
35 waldenstrom macroglobulinemia 9.9 BTK CD27 CD40 CD40LG
36 macroglobulinemia 9.9 BTK CD27 CD40LG TNFRSF13B TNFRSF13C
37 pfeiffer syndrome 9.9 CD40LG CR2 SH2D1A TLR9
38 hemophagocytic lymphohistiocytosis 9.9 CD27 CR2 SH2D1A
39 solitary osseous plasmacytoma 9.9 CD19 CD27
40 b-cell lymphomas 9.9 AICDA BTK CD40 NFKB2 TNFRSF13C
41 follicular lymphoma 9.9 AICDA CD27 CR2 TNFRSF13C
42 leukocyte disease 9.8 CD19 CR2 KMT2D TLR9
43 ischemia 9.8
44 gastrointestinal system cancer 9.8 KMT2D STAT3 TLR9
45 endocrine gland cancer 9.8 KMT2D STAT3 TLR9
46 gastrointestinal system disease 9.7 KMT2D STAT3 TLR9
47 hyperimmunoglobulin syndrome 9.7 AICDA CD40 CD40LG STAT3
48 immune deficiency disease 9.6 BTK CD19 CD40 CD40LG SH2D1A TLR9
49 multiple sclerosis 9.6
50 yellow nail syndrome 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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.23 CD40LG NFKB2
2 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.3 AICDA BTK CD19 CD27 CD40 CD40LG
2 cellular MP:0005384 10.21 AICDA BTK CD19 CD27 CD40LG IDS
3 homeostasis/metabolism MP:0005376 10.2 BTK CD19 CD40 CD40LG CR2 IDS
4 immune system MP:0005387 10.19 AICDA BTK CD19 CD27 CD40 CD40LG
5 mortality/aging MP:0010768 9.97 AICDA BTK CD19 CD40LG CR2 IDS
6 digestive/alimentary MP:0005381 9.95 AICDA BTK CD19 NFKB2 PRKCD STAT3
7 neoplasm MP:0002006 9.5 AICDA BTK CD19 KMT2D STAT3 TGM2
8 renal/urinary system MP:0005367 9.36 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:

41
B Cells, T Cells, Nk Cells, Lung, Kidney, Thyroid, Small Intestine

Publications for B Cell Deficiency

Articles related to B Cell Deficiency:

(show all 46)
# Title Authors Year
1
Complete B Cell Deficiency Reduces Allograft Inflammation and Intragraft Macrophages in a Rat Kidney Transplant Model. ( 29215459 )
2018
2
B-cell Deficiency: A De Novo IKZF1 Patient and Review of the Literature. ( 29461212 )
2018
3
Restoration of regulatory B cell deficiency following alemtuzumab therapy in patients with relapsing multiple sclerosis. ( 30373595 )
2018
4
Early B cell developmental impairment with progressive B cell deficiency in NFKB2 mutated CVID disease without autoimmunity. ( 30500415 )
2018
5
Comprehensive validation of T- and B-cell deficiency in rag1-null zebrafish: Implication for the robust innate defense mechanisms of teleosts. ( 28790360 )
2017
6
Progressive severe B cell deficiency in pediatric Rubinstein-Taybi syndrome. ( 27825976 )
2016
7
Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity. ( 27303042 )
2016
8
NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene. ( 25038527 )
2014
9
Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100. ( 25237204 )
2014
10
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
11
B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C I'. ( 23319571 )
2013
12
A case of IgM deficiency with B cell deficiency detected by ABO discrepancy in a patient with acute osteomyelitis. ( 23667850 )
2013
13
Novel spontaneous deletion of artemis exons 10 and 11 in mice leads to T- and B-cell deficiency. ( 24069355 )
2013
14
T and B cell deficiency associated with yellow nail syndrome. ( 21995335 )
2012
15
More on NK-cell and B-cell deficiency with a thymic mass. ( 21591963 )
2011
16
NK-cell and B-cell deficiency with a thymic mass. ( 21306273 )
2011
17
Chronic B cell deficiency from birth prevents age-related alterations in the B lineage. ( 21810615 )
2011
18
Long-term immune deficiency after allogeneic stem cell transplantation: B-cell deficiency is associated with late infections. ( 20133894 )
2010
19
Mucosal B cell deficiency in IgA-/- mice abrogates the development of allergic lung inflammation. ( 16002732 )
2005
20
Effects of combined T- and B-cell deficiency on murine ischemia reperfusion injury. ( 15888022 )
2005
21
B cell deficiency confers protection from renal ischemia reperfusion injury. ( 12960350 )
2003
22
B-cell deficiency and reduced B-cell reconstitution in hemoglobin-deficit mice. ( 14662329 )
2003
23
B-cell deficiency and type 1 diabetes. ( 11858222 )
2002
24
Successful immunosuppressive therapy with cyclosporine A for posthepatitis B-cell deficiency with activated cytoplasmic interferon--gamma-positive T-lymphocytes. ( 11999357 )
2002
25
A case of severe B cell deficiency after allogeneic stem cell transplantation. ( 12235525 )
2002
26
B-cell deficiency and type 1 diabetes. ( 11844863 )
2002
27
Identification of a novel receptor for B lymphocyte stimulator that is mutated in a mouse strain with severe B cell deficiency. ( 11591325 )
2001
28
B-cell deficiency suppresses vaccine-induced protection against murine filariasis but does not increase the recovery rate for primary infection. ( 11598082 )
2001
29
Development of type 1 diabetes despite severe hereditary B-cell deficiency. ( 11586956 )
2001
30
Severe B cell deficiency in mice lacking the tec kinase family members Tec and Btk. ( 11104803 )
2000
31
B-Cell deficiency predisposes mice to disseminating anaerobic infections: protection by passive antibody transfer. ( 10992465 )
2000
32
A quantitative-trait locus controlling peripheral B-cell deficiency maps to mouse Chromosome 15. ( 11003386 )
2000
33
Microphthalmic mice display a B cell deficiency similar to that seen for mast and NK cells. ( 10586063 )
1999
34
Severe B cell deficiency and disrupted splenic architecture in transgenic mice expressing the E41K mutated form of Bruton's tyrosine kinase. ( 9736610 )
1998
35
The effect of B cell deficiency on the immune response to acetylcholine receptor and the development of experimental autoimmune myasthenia gravis. ( 9646836 )
1998
36
Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia. ( 9419212 )
1998
37
A pronounced thymic B cell deficiency in the spontaneously diabetic BB rat. ( 9164980 )
1997
38
B-cell deficiency does not abrogate development of cutaneous hyperplasia in mice inheriting the defective fibrillin-1 gene. ( 9451590 )
1997
39
The resolution of acute malaria in a definitive model of B cell deficiency, the JHD mouse. ( 8157969 )
1994
40
The Yaa gene-dependent B-cell deficiency worsens the generalized lymphadenopathy and autoimmunity of C57BL/6-gld male mice. ( 7835973 )
1994
41
Intestinal intraepithelial gamma/delta T cells in B-cell deficiency. ( 8167738 )
1993
42
Distribution and phenotypes of duodenal intraepithelial gamma/delta T cells in patients with various types of primary B-cell deficiency. ( 8103721 )
1993
43
B cell deficiency progresses with lineage maturation in nude.X-linked immunodeficient mice B cell deficiency progresses with lineage maturation. ( 1385525 )
1992
44
Experimental model of B-cell deficiency in mice. ( 6966610 )
1980
45
Effect of lipopolysaccharide on immunogenicity and tolerogenicity of HGG in C57BL/6J nude mice: evidence for a possible B cell deficiency. ( 72110 )
1977
46
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 31)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.9 BTK CD19 CD27 CD40 CD40LG NFKB2
2
Show member pathways
13.57 BTK CD27 CD40 CD40LG PRKCD STAT3
3
Show member pathways
13.22 CD27 CD40 CD40LG NFKB2 PRKCD STAT3
4
Show member pathways
13.2 BTK CD27 CD40 CD40LG PRKCD TNFRSF13B
5
Show member pathways
13.2 BTK CD27 CD40 CD40LG PRKCD STAT3
6
Show member pathways
13.1 BTK CD19 CD40 CR2 PRKCD STAT3
7
Show member pathways
12.9 BTK CD40 NFKB2 PRKCD TLR9
8
Show member pathways
12.8 BTK CD27 CD40 CD40LG PRKCD TNFRSF13B
9
Show member pathways
12.76 AICDA CD40 CD40LG NFKB2 TNFRSF13B TNFRSF13C
10
Show member pathways
12.55 CD27 CD40 CD40LG CR2 PRKCD STAT3
11
Show member pathways
12.55 CD40 CD40LG NFKB2 PRKCD TLR9 TNFRSF13C
12
Show member pathways
12.47 BTK CD19 CR2 NFKB2
13
Show member pathways
12.39 BTK CD27 CD40 CD40LG PRKCD TLR9
14
Show member pathways
12.32 CR2 NFKB2 TNFRSF13B TNFRSF13C
15
Show member pathways
12.29 BTK CD19 CR2 PRKCD
16 12.27 AICDA BTK CD19 CD40LG NFKB2 SH2D1A
17
Show member pathways
12.24 BTK NFKB2 PRKCD STAT3
18
Show member pathways
12.24 BTK CD19 CD40 PRKCD
19
Show member pathways
12.12 BTK NFKB2 PRKCD TLR9
20 12.1 BTK CD19 CD40 CR2 NFKB2 STAT3
21 11.97 CD19 CD40 CD40LG SH2D1A
22
Show member pathways
11.96 BTK PRKCD STAT3 TNFRSF13C
23
Show member pathways
11.91 NFKB2 STAT3 TLR9
24 11.74 BTK CD40 CD40LG NFKB2 TNFRSF13C
25
Show member pathways
11.6 CD40 CD40LG NFKB2 TNFRSF13B
26 11.54 CD27 CD40 CD40LG
27 11.44 NFKB2 PRKCD STAT3
28 11.44 CD40 CD40LG TLR9
29 11.41 BTK NFKB2 STAT3
30 11.22 CD19 CD27 CD40 CD40LG CR2 STAT3
31 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 9.73 BTK CD19 CD27 CD40 CD40LG CR2
2 external side of plasma membrane GO:0009897 9.1 CD19 CD27 CD40 CD40LG IGLL1 TNFRSF13C

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.91 CD40 CD40LG STAT3 TLR9
2 innate immune response GO:0045087 9.88 BTK CR2 IGLL1 SH2D1A TLR9
3 adaptive immune response GO:0002250 9.85 BTK SH2D1A TNFRSF13B TNFRSF13C
4 defense response to bacterium GO:0042742 9.8 AICDA IGLL1 PRKCD TLR9
5 immune system process GO:0002376 9.8 BTK CD40 CR2 SH2D1A TLR9 TNFRSF13B
6 B cell receptor signaling pathway GO:0050853 9.76 BTK CD19 IGLL1
7 platelet activation GO:0030168 9.75 CD40 CD40LG PRKCD
8 regulation of immune response GO:0050776 9.72 CD19 CD40 CD40LG SH2D1A TNFRSF13C
9 B cell differentiation GO:0030183 9.63 AICDA CD40LG CR2
10 positive regulation of endothelial cell apoptotic process GO:2000353 9.6 CD40 CD40LG
11 B cell homeostasis GO:0001782 9.59 TNFRSF13B TNFRSF13C
12 positive regulation of B cell proliferation GO:0030890 9.58 CD40 TLR9 TNFRSF13C
13 isotype switching GO:0045190 9.57 AICDA CD40LG
14 negative regulation of B cell proliferation GO:0030889 9.56 BTK TNFRSF13B
15 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.55 BTK CD40 CD40LG NFKB2 TLR9
16 positive regulation of interferon-gamma biosynthetic process GO:0045078 9.54 TLR9 TNFRSF13C
17 positive regulation of interleukin-12 production GO:0032735 9.54 CD40 CD40LG TLR9
18 immunoglobulin mediated immune response GO:0016064 9.52 CD27 PRKCD
19 positive regulation of B cell differentiation GO:0045579 9.51 BTK CD27
20 regulation of immunoglobulin secretion GO:0051023 9.43 CD40 CD40LG
21 B cell proliferation GO:0042100 9.26 CD40 CD40LG CR2 PRKCD
22 tumor necrosis factor-mediated signaling pathway GO:0033209 9.02 CD27 CD40 CD40LG TNFRSF13B TNFRSF13C

Sources for B Cell Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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