MCID: BCL002
MIFTS: 43

B Cell Deficiency

Categories: Blood diseases, Rare diseases, Immune 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
SNOMED-CT 68 190982008
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 immunoglobulin alpha deficiency. 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 Cytokine Signaling in Immune system. 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)

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 152)
# Related Disease Score Top Affiliating Genes
1 agammaglobulinemia 30.8 BTK CD19 CD40LG CD79A IGLL1 SH2D1A
2 immunoglobulin alpha deficiency 30.4 CD40LG CD79A TGM2 TNFRSF13B
3 yellow nail syndrome 30.0 CD40LG CD79A
4 agammaglobulinemia, x-linked 11.1
5 bird fancier's lung 10.8 CD79A IGLL1
6 autoimmune lymphoproliferative syndrome, type iii 10.8
7 lambda 5 deficiency 10.8
8 b cell linker protein deficiency 10.8
9 primary agammaglobulinemia 10.8 TNFRSF13B TNFRSF13C
10 selective igg deficiency disease 10.8 CD40LG CD79A
11 c1q nephropathy 10.8 CD40LG CD79A
12 meningovascular neurosyphilis 10.8 CD40LG CD79A
13 alpha chain disease 10.8 CD40LG CD79A
14 brill-zinsser disease 10.8 CD40LG CD79A
15 exudative glomerulonephritis 10.8 CD40LG CD79A
16 cork-handlers' disease 10.8 CD40LG CD79A
17 salpingo-oophoritis 10.8 CD40LG CD79A
18 early yaws 10.7 CD40LG CD79A
19 chronic interstitial cystitis 10.7 CD40LG CD79A
20 axillary adenitis 10.7 CD40LG CD79A
21 cryofibrinogenemia 10.7 CD40LG CD79A
22 trichostrongyloidiasis 10.7 CD40LG CD79A
23 subacute bacterial endocarditis 10.7 CD40LG CD79A
24 heterophyiasis 10.7 CD40LG CD79A
25 immunoglobulin g deficiency 10.7 CD40LG CD79A
26 orbital granuloma 10.7 CD40LG CD79A
27 hyperglobulinemic purpura 10.7 CD40LG CD79A
28 gastroduodenitis 10.7 CD40LG CD79A
29 bacterial conjunctivitis 10.7 CD40LG CD79A
30 heavy chain disease 10.7 CD40LG CD79A
31 ophthalmia neonatorum 10.7 CD40LG CD79A
32 parotid disease 10.7 CD40LG CD79A
33 agammaglobulinemia, non-bruton type 10.7 BTK CD79A IGLL1
34 cerebral arteritis 10.7 CD40LG CD79A
35 geniculate herpes zoster 10.6 CD40LG CD79A
36 erythema elevatum diutinum 10.6 CD40LG CD79A
37 sporotrichosis 10.6 CD40LG CD79A
38 fallopian tube disease 10.6 CD40LG CD79A
39 congenital syphilis 10.6 CD40LG CD79A
40 polyclonal hypergammaglobulinemia 10.6 CD40LG CD79A
41 salpingitis 10.6 CD40LG CD79A
42 acute maxillary sinusitis 10.6 CD40LG CD79A
43 chronic polyneuropathy 10.6 CD40LG CD79A
44 ventilation pneumonitis 10.6 CD40LG CD79A IGLL1
45 precursor lymphoblastic lymphoma/leukemia 10.6 CD27 CD79A
46 spinocerebellar ataxia, autosomal recessive 10 10.5 CD40LG CD79A
47 immunoglobulin a deficiency 1 10.5 BTK CD40LG CD79A
48 parasitic ichthyosporea infectious disease 10.5 CD40LG CD79A
49 encephalitozoonosis 10.5 CD19 CD40LG
50 rhinosporidiosis 10.5 CD40LG CD79A

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 NFKB2 CD40LG
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.23 IGLL1 NFKB2 BTK CD27 CD40 CD40LG

MGI Mouse Phenotypes related to B Cell Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.24 TGM2 TLR9 TNFRSF13B TNFRSF13C SH2D1A BTK
2 immune system MP:0005387 10.16 TLR9 TNFRSF13B TNFRSF13C SH2D1A TGM2 BTK
3 cellular MP:0005384 10.14 TGM2 TLR9 CD79A BTK IDS CD19
4 homeostasis/metabolism MP:0005376 10.13 TGM2 TLR9 TNFRSF13B TNFRSF13C SH2D1A CD79A
5 mortality/aging MP:0010768 9.9 TGM2 TLR9 TNFRSF13B PRKCD BTK CR2
6 neoplasm MP:0002006 9.43 TGM2 TNFRSF13B CD79A BTK CD19 AICDA
7 renal/urinary system MP:0005367 9.32 TGM2 TLR9 TNFRSF13B CD79A CR2 CD19

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, Thyroid, Lung, Kidney

Publications for B Cell Deficiency

Articles related to B Cell Deficiency:

(show top 50) (show all 56)
# 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
Comprehensive validation of T- and B-cell deficiency in rag1-null zebrafish: Implication for the robust innate defense mechanisms of teleosts. ( 28790360 )
2017
4
Progressive severe B cell deficiency in pediatric Rubinstein-Taybi syndrome. ( 27825976 )
2016
5
Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity. ( 27303042 )
2016
6
NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene. ( 25038527 )
2014
7
Generation of recombination activating gene-1-deficient neonatal piglets: a model of T and B cell deficient severe combined immune deficiency. ( 25437445 )
2014
8
Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100. ( 25237204 )
2014
9
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
10
B cell deficient mice are protected from biliary obstruction in the rotavirus-induced mouse model of biliary atresia. ( 23991203 )
2013
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
B cell-deficient NOD.H-2h4 mice have CD4+CD25+ T regulatory cells that inhibit the development of spontaneous autoimmune thyroiditis. ( 16446379 )
2006
20
Mucosal B cell deficiency in IgA-/- mice abrogates the development of allergic lung inflammation. ( 16002732 )
2005
21
Effects of combined T- and B-cell deficiency on murine ischemia reperfusion injury. ( 15888022 )
2005
22
B cell deficiency confers protection from renal ischemia reperfusion injury. ( 12960350 )
2003
23
B-cell deficiency and reduced B-cell reconstitution in hemoglobin-deficit mice. ( 14662329 )
2003
24
B-cell deficiency and type 1 diabetes. ( 11858222 )
2002
25
Novel Igalpha (CD79a) gene mutation in a Turkish patient with B cell- deficient agammaglobulinemia. ( 11920841 )
2002
26
Successful immunosuppressive therapy with cyclosporine A for posthepatitis B-cell deficiency with activated cytoplasmic interferon--gamma-positive T-lymphocytes. ( 11999357 )
2002
27
A case of severe B cell deficiency after allogeneic stem cell transplantation. ( 12235525 )
2002
28
B-cell deficiency and type 1 diabetes. ( 11844863 )
2002
29
Identification of a novel receptor for B lymphocyte stimulator that is mutated in a mouse strain with severe B cell deficiency. ( 11591325 )
2001
30
B-cell deficiency suppresses vaccine-induced protection against murine filariasis but does not increase the recovery rate for primary infection. ( 11598082 )
2001
31
Severe B cell deficiency in mice lacking the tec kinase family members Tec and Btk. ( 11104803 )
2000
32
B-Cell deficiency predisposes mice to disseminating anaerobic infections: protection by passive antibody transfer. ( 10992465 )
2000
33
B lymphocytes regulate dendritic cell (DC) function in vivo: increased interleukin 12 production by DCs from B cell-deficient mice results in T helper cell type 1 deviation. ( 10952717 )
2000
34
A quantitative-trait locus controlling peripheral B-cell deficiency maps to mouse Chromosome 15. ( 11003386 )
2000
35
Resistance to herpetic stromal keratitis in immunized B-cell-deficient mice. ( 10208930 )
1999
36
Microphthalmic mice display a B cell deficiency similar to that seen for mast and NK cells. ( 10586063 )
1999
37
Antigen-induced airway hyperresponsiveness, pulmonary eosinophilia, and chemokine expression in B cell-deficient mice. ( 10030835 )
1999
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
The effect of B cell deficiency on the immune response to acetylcholine receptor and the development of experimental autoimmune myasthenia gravis. ( 9646836 )
1998
40
Requirements for allergen-induced airway hyperreactivity in T and B cell-deficient mice. ( 9642684 )
1998
41
B-cell-deficient mice develop experimental allergic encephalomyelitis with demyelination after myelin oligodendrocyte glycoprotein sensitization. ( 9794370 )
1998
42
Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia. ( 9419212 )
1998
43
A pronounced thymic B cell deficiency in the spontaneously diabetic BB rat. ( 9164980 )
1997
44
B-cell deficiency does not abrogate development of cutaneous hyperplasia in mice inheriting the defective fibrillin-1 gene. ( 9451590 )
1997
45
Analysis of T cell receptor V beta gene expression in B cell deficient mice after experimental herpes simplex virus keratitis. ( 9385402 )
1997
46
Alloantibody- and T cell-mediated immunity in the pathogenesis of transplant arteriosclerosis: lack of progression to sclerotic lesions in B cell-deficient mice. ( 9415552 )
1997
47
B cell-deficient muMT mice as an experimental model for Mycoplasma infections in X-linked agammaglobulinemia. ( 9295053 )
1997
48
Exhaustion of CTL memory and recrudescence of viremia in lymphocytic choriomeningitis virus-infected MHC class II-deficient mice and B cell-deficient mice. ( 8816417 )
1996
49
The resolution of acute malaria in a definitive model of B cell deficiency, the JHD mouse. ( 8157969 )
1994
50
The Yaa gene-dependent B-cell deficiency worsens the generalized lymphadenopathy and autoimmunity of C57BL/6-gld male mice. ( 7835973 )
1994

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 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.85 BTK CD19 CD27 CD40 CD40LG CD79A
2
Show member pathways
13.26 CD27 CD40 CD40LG NFKB2 PRKCD TNFRSF13B
3
Show member pathways
13.24 BTK CD27 CD40 CD40LG PRKCD TLR9
4
Show member pathways
13.19 BTK CD27 CD40 CD40LG PRKCD TNFRSF13B
5
Show member pathways
12.88 BTK CD40 NFKB2 PRKCD TLR9
6
Show member pathways
12.75 AICDA CD40 CD40LG NFKB2 TNFRSF13B TNFRSF13C
7
Show member pathways
12.68 BTK CD27 CD40 CD40LG CD79A PRKCD
8
Show member pathways
12.59 BTK CD19 CD40 CD79A CR2 PRKCD
9
Show member pathways
12.54 CD27 CD40 CD40LG CR2 PRKCD
10
Show member pathways
12.53 CD40 CD40LG NFKB2 PRKCD TLR9 TNFRSF13C
11
Show member pathways
12.45 BTK CD19 CD79A CR2 NFKB2
12
Show member pathways
12.39 CD40 CD40LG TLR9 TNFRSF13B
13
Show member pathways
12.32 CR2 NFKB2 TNFRSF13B TNFRSF13C
14 12.27 AICDA BTK CD19 CD40LG CD79A NFKB2
15
Show member pathways
12.24 BTK CD19 CD40 PRKCD
16
Show member pathways
12.23 BTK CD19 CD79A CR2 PRKCD
17 12.2 CD19 CD40 CR2 NFKB2
18
Show member pathways
12.11 BTK NFKB2 PRKCD TLR9
19 11.94 CD19 CD40 CD40LG SH2D1A
20
Show member pathways
11.82 BTK CD19 CD79A
21 11.63 BTK CD40 CD40LG NFKB2 TNFRSF13C
22
Show member pathways
11.57 CD40 CD40LG NFKB2 TNFRSF13B
23 11.53 CD27 CD40 CD40LG
24 11.43 CD40 CD40LG TLR9
25 11.16 CD19 CD27 CD40 CD40LG CR2 TNFRSF13B
26 10.84 AICDA BTK CD19 CD40 CD40LG CD79A

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 CD79A
2 external side of plasma membrane GO:0009897 9.17 CD19 CD27 CD40 CD40LG CD79A IGLL1

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.96 CD27 CD40 CD40LG CR2 IGLL1
2 innate immune response GO:0045087 9.95 BTK CR2 IGLL1 NFKB2 SH2D1A TLR9
3 inflammatory response GO:0006954 9.93 CD27 CD40 CD40LG NFKB2 TLR9
4 cell surface receptor signaling pathway GO:0007166 9.9 CD19 CD27 CD79A TNFRSF13B
5 defense response to bacterium GO:0042742 9.85 AICDA IGLL1 PRKCD TLR9
6 adaptive immune response GO:0002250 9.85 BTK CD79A SH2D1A TNFRSF13B TNFRSF13C
7 platelet activation GO:0030168 9.79 CD40 CD40LG PRKCD
8 regulation of immune response GO:0050776 9.77 CD19 CD40 CD40LG SH2D1A TNFRSF13C
9 apoptotic signaling pathway GO:0097190 9.74 BTK CD27 CD40
10 B cell receptor signaling pathway GO:0050853 9.71 BTK CD19 CD79A IGLL1
11 positive regulation of B cell proliferation GO:0030890 9.69 CD40 TLR9 TNFRSF13C
12 B cell activation GO:0042113 9.67 BTK CD40 CD79A
13 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.65 BTK CD40 CD40LG NFKB2 TLR9
14 positive regulation of endothelial cell apoptotic process GO:2000353 9.63 CD40 CD40LG
15 B cell homeostasis GO:0001782 9.62 TNFRSF13B TNFRSF13C
16 B cell differentiation GO:0030183 9.62 AICDA CD40LG CD79A CR2
17 negative regulation of B cell proliferation GO:0030889 9.61 BTK TNFRSF13B
18 isotype switching GO:0045190 9.61 AICDA CD40LG
19 positive regulation of interleukin-12 production GO:0032735 9.61 CD40 CD40LG TLR9
20 positive regulation of B cell differentiation GO:0045579 9.59 BTK CD27
21 immunoglobulin mediated immune response GO:0016064 9.58 CD27 PRKCD
22 positive regulation of interferon-gamma biosynthetic process GO:0045078 9.58 TLR9 TNFRSF13C
23 immune system process GO:0002376 9.56 BTK CD40 CD79A CR2 SH2D1A TLR9
24 tumor necrosis factor-mediated signaling pathway GO:0033209 9.55 CD27 CD40 CD40LG TNFRSF13B TNFRSF13C
25 regulation of immunoglobulin secretion GO:0051023 9.52 CD40 CD40LG
26 B cell proliferation GO:0042100 9.02 CD40 CD40LG CD79A CR2 PRKCD

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 8.92 CD27 CD79A CR2 TLR9

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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