MCID: BCL002
MIFTS: 53

B Cell Deficiency malady

Blood diseases, Immune diseases categories

Summaries for B Cell Deficiency

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8Disease Ontology, 63Wikipedia, 32MalaCards
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Disease Ontology:8 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: B Cell Deficiency, also known as immunoglobulin heavy chain deficiency, is related to agammaglobulinemia and myasthenia gravis. An important gene associated with B Cell Deficiency is IGLL1 (immunoglobulin lambda-like polypeptide 1), and among its related pathways are IL-9 Signaling and its Primary Biological Effects in Different Immune Cell Types and OX40 Pathway. The compounds indomethacin and ovomucoid have been mentioned in the context of this disorder. Affiliated tissues include b cells, t cells and nk cells, and related mouse phenotypes are cellular and homeostasis/metabolism.

Wikipedia:63 Humoral immune deficiencies are conditions which cause impairment of humoral immunity, which can lead to... more...

Aliases & Classifications for B Cell Deficiency

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8Disease Ontology, 48Orphanet, 60UMLS, 27ICD9CM, 56SNOMED-CT, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood diseases, Immune diseases


Aliases & Descriptions:

b cell deficiency 8
immunoglobulin heavy chain deficiency 8 48 60
immunoglobulin heavy chain deletion 8
b cell deficiencies 8
humoral immune defect 60


External Ids:

Disease Ontology8 DOID:2115
ICD9CM27 279.03
ICD10 via Orphanet26 D80.8
SNOMED-CT56 190982008
SNOMED-CT via Orphanet57 234539005
UMLS via Orphanet61 C0398692

Related Diseases for B Cell Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to B Cell Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 163)
idRelated DiseaseScoreTop Affiliating Genes
1agammaglobulinemia30.4IL4, CD79A, BTK
2myasthenia gravis29.9IL4
3poems syndrome29.9CD79A
4bruton-type agammaglobulinemia29.9TEC, BTK
5filariasis29.9IL5, IGHE
6immunoglobulin alpha deficiency29.9CD79A, IGHE
7encephalomyelitis29.9IL4, CCL7
8pulmonary eosinophilia29.9IGHE, IL5, IL4
9eosinophilia29.9CCL7, IGHE, CD79A, IL5, IL4
10t cell deficiency10.5
11combined cellular and humoral immune defects with granulomas10.2
12ischemia10.1
13keratitis10.1
14congenital hypogammaglobulinemia10.0IGLL1
15keratoconjunctivitis10.0IL5
16cystic fibrosis10.0
17bloom syndrome10.0
18autoimmune thyroiditis10.0
19biliary atresia10.0
20cartilage-hair hypoplasia10.0
21ataxia telangiectasia10.0
22netherton syndrome10.0
23yellow nail syndrome10.0
24spondyloepimetaphyseal dysplasia, sponastrime type10.0
25lymphocytic choriomeningitis10.0
26artemis deficiency10.0
27lambda 5 deficiency10.0
28b cell linker protein deficiency10.0
29reticular dysgenesis10.0
30good syndrome10.0
31transcobalamin ii deficiency10.0
32giardiasis10.0
33t lymphocyte deficiency10.0
34mhc class ii deficiency10.0
35protein c deficiency10.0
36arteriosclerosis10.0
37herpes simplex10.0
38malaria10.0
39osteomyelitis10.0
40thymoma10.0
41thyroiditis10.0
42hereditary folate malabsorption10.0
43vici syndrome10.0
44aplasia cutis congenita intestinal lymphangiectasia10.0
45achondroplasia and severe combined immunodeficiency10.0
46myelocerebellar disorder10.0
47epilepsy telangiectasia10.0
48griscelli syndrome type 110.0
49hennekam syndrome10.0
50natal teeth, intestinal pseudoobstruction and patent ductus10.0

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



Diseases related to b cell deficiency

Clinical Features for B Cell Deficiency

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Drugs & Therapeutics for B Cell Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for B Cell Deficiency

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Anatomical Context for B Cell Deficiency

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32MalaCards
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MalaCards organs/tissues related to B Cell Deficiency:

32
B cells, T cells, Nk cells, Bone marrow, Bone, Smooth muscle, B lymphoblasts, Monocytes, Testis, Skin, Thyroid, Lung, Liver, Spleen, Endothelial

Animal Models for B Cell Deficiency or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to B Cell Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053847.6PRKCD, IGLL1, BTK, CD79A, TEC, TNFRSF13C
2MP:00053766.1TNFRSF13C, PRKCD, IGHE, BTK, CD79A, IL5
3MP:00053975.8TEC, CCL7, TNFRSF13C, PRKCD, IGHE, IGLL1
4MP:00053875.7CCL7, TNFRSF13C, PRKCD, IGHE, IGLL1, BTK

Publications for B Cell Deficiency

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50PubMed
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Articles related to B Cell Deficiency:

(show top 50)    (show all 166)
idTitleAuthorsYear
1
B-cell subsets in patients with transient hypogammaglobulinemia of infancy, partial IgA deficiency, and selective IgM deficiency. (23654075)
2013
2
Epstein-Barr virus-independent diffuse large B-cell lymphoma in DNA ligase 4 deficiency. (23228243)
2013
3
Mantle Cell Lymphoma in Cyclin D1 Transgenic Mice with Bim-deficient B-cells. (24352880)
2013
4
Novel spontaneous deletion of artemis exons 10 and 11 in mice leads to T- and B-cell deficiency. (24069355)
2013
5
Defective B cell tolerance in adenosine deaminase deficiency is corrected by gene therapy. (22622038)
2012
6
Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. 1993. (22442491)
2012
7
The autoreactivity of B cells in hereditary angioedema due to C1 inhibitor deficiency. (22288585)
2012
8
Diffuse large B-cell lymphoma as presenting feature of Zap-70 deficiency. (21094993)
2011
9
Deficiency of scavenger receptor class B type I negatively affects progesterone secretion in human granulosa cells. (20844007)
2010
10
Coincidence of moderately elevated N-terminal pro-B-type natriuretic peptide, endothelial progenitor cells deficiency and propensity to exercise-induced myocardial ischemia in stable angina. (20364046)
2010
11
Leptin deficiency-induced obesity exacerbates ultraviolet B radiation-induced cyclooxygenase-2 expression and cell survival signals in ultraviolet B-irradiated mouse skin. (20122948)
2010
12
Correction of B-cell development in Btk-deficient mice using lentiviral vectors with codon-optimized human BTK. (20574453)
2010
13
Patients with chronic hepatitis B infection display deficiency of plasmacytoid dendritic cells with reduced expression of TLR9. (19289178)
2009
14
Human C3 deficiency associated with impairments in dendritic cell differentiation, memory B cells, and regulatory T cells. (18802120)
2008
15
Chylous ascites secondary to B-cell non Hodgkin's lymphoma in a patient with the acquired immune deficiency syndrome (AIDS). (17997372)
2008
16
Inhibition of Aurora-B function increases formation of multinucleated cells in p53 gene deficient cells and enhances anti-tumor effect of temozolomide in human glioma cells. (17570035)
2007
17
Protein expression and cellular localization in two prognostic subgroups of diffuse large B-cell lymphoma: higher expression of ZAP70 and PKC-beta II in the non-germinal center group and poor survival in patients deficient in nuclear PTEN. (17926183)
2007
18
Acquired C1-esterase inhibitor deficiency and positive lupus anticoagulant accompanied by splenic marginal zone B-cell lymphoma. (17888223)
2007
19
Spontaneous tumor rejection by cbl-b-deficient CD8+ T cells. (17403934)
2007
20
Development of a new mouse model (xeroderma pigmentosum a-deficient, stem cell factor-transgenic) of ultraviolet B-induced melanoma. (16117793)
2005
21
Wiskott-Aldrich syndrome protein deficiency leads to reduced B-cell adhesion, migration, and homing, and a delayed humoral immune response. (15383456)
2005
22
Dendritic cell deficiency in early B cell chronic lymphocytic leukemia. (14754617)
2004
23
B-cell deficiency and reduced B-cell reconstitution in hemoglobin-deficit mice. (14662329)
2003
24
Impaired antigen receptor induced calcium mobilization in a phospholipase C-gamma1 deficient B cell line. (14687726)
2003
25
WIP deficiency reveals a differential role for WIP and the actin cytoskeleton in T and B cell activation. (11869681)
2002
26
A case of severe B cell deficiency after allogeneic stem cell transplantation. (12235525)
2002
27
Successful immunosuppressive therapy with cyclosporine A for posthepatitis B-cell deficiency with activated cytoplasmic interferon--gamma-positive T-lymphocytes. (11999357)
2002
28
Novel Igalpha (CD79a) gene mutation in a Turkish patient with B cell- deficient agammaglobulinemia. (11920841)
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
Fas/Fas ligand deficiency results in altered localization of anti-double-stranded DNA B cells and dendritic cells. (11490027)
2001
31
Spleen tyrosine kinase (Syk) deficiency in childhood pro-B cell acute lymphoblastic leukemia. (11494125)
2001
32
Transcription coupled repair deficiency results in increased chromosomal aberrations and apoptotic death in the UV61 cell line, the Chinese hamster homologue of Cockayne's syndrome B. (11182543)
2001
33
Common cytokine receptor gamma chain (gammac)-deficient B cells persist in T cell-deficient gammac-mice and respond to a T-independent antigen. (10898497)
2000
34
I. Abnormalities in cells of the testis, efferent ducts, and epididymis in juvenile and adult mice with beta-hexosaminidase A and B deficiency. (10591618)
1999
35
B-cell-deficient mice develop experimental allergic encephalomyelitis with demyelination after myelin oligodendrocyte glycoprotein sensitization. (9794370)
1998
36
Deficiency of the ATM protein expression defines an aggressive subgroup of B-cell chronic lymphocytic leukemia. (9788599)
1998
37
Abnormal surface expression of sialoglycans on B lymphocyte cell lines from patients with carbohydrate deficient glycoprotein syndrome I A (CDGS I A). (9719677)
1998
38
Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia. (9419212)
1998
39
B-cell deficiency does not abrogate development of cutaneous hyperplasia in mice inheriting the defective fibrillin-1 gene. (9451590)
1997
40
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
41
Analysis of T cell receptor V beta gene expression in B cell deficient mice after experimental herpes simplex virus keratitis. (9385402)
1997
42
X-linked agammaglobulinemia and immunoglobulin deficiency with normal or elevated IgM: immunodeficiencies of B cell development and differentiation. (8607374)
1995
43
B-cell antigen receptor stimulation activates the human Bruton's tyrosine kinase, which is deficient in X-linked agammaglobulinemia. (7929028)
1994
44
Altered band 3 structure and function in glycophorin A- and B-deficient (MkMk) red blood cells. (8043873)
1994
45
Protease treatment of nuclear extracts distinguishes between class II MHC X1 box DNA-binding proteins in wild-type and class II-deficient B cells. (8436816)
1993
46
B cell deficiency progresses with lineage maturation in nude.X-linked immunodeficient mice B cell deficiency progresses with lineage maturation. (1385525)
1992
47
Chronic giardiasis in B-cell-deficient mice expressing the xid gene. (3262587)
1988
48
Complete recovery from hepatitis B and associated hemolysis in a patient with underlying T-cell deficiency. (6608466)
1984
49
Effect of lipopolysaccharide on immunogenicity and tolerogenicity of HGG in C57BL/6J nude mice: evidence for a possible B cell deficiency. (72110)
1977
50
Chronic mucocutaneous candidiasis: T cell deficiency associated with B cell dysfunction in man. (4549559)
1974

Genetic Variations for B Cell Deficiency

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Expression for genes affiliated with B Cell Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with B Cell Deficiency

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

Pathways for genes affiliated with B Cell Deficiency

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52R&D Systems, 51QIAGEN, 37NCBI BioSystems Database, 29KEGG, 55SinoBiological, 12EMD Millipore, 53Reactome, 4Cell Signaling Technology
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Pathways related to B Cell Deficiency according to GeneCards/GeneDecks:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5IL5, IL4
29.5IL4, IL5
39.5IL5, IL4
49.5IL4, IL5
59.5IL4, IL5
6
Hide members
9.2TNFRSF13C, IL5, IL4
7
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9.2TNFRSF13C, PRKCD, BTK
8
Immune response NFAT in immune response
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9.1CD79A, BTK, IGHE
99.1IL5, BTK, PRKCD
109.0TNFRSF13C, IGLL1, BTK, CD79A
119.0IGHE, IL5, IL4
12
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8.8TEC, BTK, IGHE
138.7PRKCD, BTK, TEC
14
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8.5IL4, IL5, BTK, TNFRSF13C, CCL7
15
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8.3TEC, BTK, PRKCD, CCL7
168.3BTK, CD79A, IL4, TEC
17
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8.3IGHE, BTK, CD79A, TEC
188.2TEC, CD79A, BTK, PRKCD
19
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8.1IL5, CD79A, BTK, IGHE, PRKCD
20
Hide members
7.9CCL7, TNFRSF13C, PRKCD, BTK, IL5, IL4
21
Hide members
7.9CCL7, TNFRSF13C, PRKCD, BTK, IL5, IL4
22
Hide members
7.9CCL7, TNFRSF13C, PRKCD, BTK, IL5, IL4
23
Hide members
7.7PRKCD, BTK, CD79A, IL4, TEC
24
Hide members
7.6PRKCD, IGHE, BTK, CD79A, IL5, IL4
25
Hide members
7.3TEC, IL4, IL5, CD79A, BTK, PRKCD
26
Hide members
7.1CCL7, TNFRSF13C, PRKCD, BTK, IL5, IL4

Compounds for genes affiliated with B Cell Deficiency

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44Novoseek, 59Tocris Bioscience, 28IUPHAR, 11DrugBank, 2BitterDB, 24HMDB, 49PharmGKB
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Compounds related to B Cell Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 64)
idCompoundScoreTop Affiliating Genes
1indomethacin44 59 28 1113.4IL5
2ovomucoid4410.4IGHE
3hydrocortisone44 2 59 1113.2IGHE
4loteprednol44 1110.9IL5, IL4
5tolnaftate449.9IL4, IL5
6mometasone44 1110.9IL4, IL5
7blys449.9CD79A, TNFRSF13C
8mcp 1449.9IL5, CCL7
9oxatomide449.9IL5, IGHE
10beclomethasone dipropionate449.9IGHE, IL5
11toluene diisocyanate449.9IGHE, IL5
12c-d4t449.9IL5, IL4
13epinastine44 1110.8IL4, IL5
14cetirizine44 28 11 2412.8IL5, IGHE
15desloratadine44 1110.7IL4, IGHE
16pranlukast44 28 1111.7IL5, IL4
17fenoterol44 28 1111.7IL4, IGHE
18glatiramer acetate44 1110.6IL4, IL5
19mk 57144 5910.5IL4, IL5
20unicap449.5CD79A, IL5, IGHE
21sodium cromoglycate449.5CD79A, IL5, IGHE
22penicillin449.5IL5, CD79A, IGHE
23hemocyanin449.5CD79A, IL4
24con a449.5CD79A, IL5, IL4
25salbutamol44 49 28 11 2413.5CD79A, IGHE, IL5
26omalizumab44 1110.5IGHE, IL5, IL4
27carbamazepine44 49 1111.5IL4, CD79A, IL5
28nedocromil sodium449.4IGHE, IL5, IL4
29salmeterol44 49 28 1112.4IL4, IL5
30azelastine44 1110.4IL4, IL5, IGHE
31itraconazole44 1110.4IL4, IL5, IGHE
32montelukast44 49 28 1112.4IGHE, IL5, IL4
33budesonide44 49 1111.4IL4, IGHE, IL5
34fluticasone propionate44 49 59 1112.4IL4, IL5, IGHE
35prednisolone44 28 1111.4IL5, CD79A, IGHE
36ketotifen44 1110.2IL5, IGHE
37tarc449.1IL4, IL5, IGHE, CCL7
38praziquantel44 1110.0IGHE, IL4, IL5, CD79A
39methacholine44 1110.0IL5, IGHE, IL4, CD79A
40allergens449.0IL5, IL4, CD79A, IGHE
41thyroxine44 2410.0IL4, IL5, CD79A, IGHE
42ionomycin449.0IL4, IL5, BTK, PRKCD
43inositol448.8TEC, IGHE, CD79A
44ivig448.6CD79A, IL5, IL4, BTK, IGHE
45dexamethasone44 49 28 1111.6IL4, CCL7, IGHE, IL5, CD79A
46arginine448.5BTK, IGHE, IL5, CD79A, IL4
47cysteine448.3BTK, IL4, PRKCD, IL5, CD79A
48histamine44 28 2410.3IL4, IL5, CD79A, BTK, IGHE, CCL7
49cyclosporin a44 28 5910.2TEC, IL4, IL5, CD79A, IGHE
50tyrosine447.7CCL7, TEC, BTK, IL5, PRKCD, IL4

GO Terms for genes affiliated with B Cell Deficiency

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16Gene Ontology
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Cellular components related to B Cell Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:0098979.2IL4, CD79A, TNFRSF13C

Biological processes related to B Cell Deficiency according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1B cell costimulationGO:0312969.7TNFRSF13C, IL4
2B cell activationGO:0421139.6CD79A, BTK
3B cell proliferationGO:0421009.4CD79A, PRKCD
4positive regulation of B cell proliferationGO:0308909.3IL4, IL5, TNFRSF13C
5B cell receptor signaling pathwayGO:0508539.0BTK, CD79A, TEC
6Fc-epsilon receptor signaling pathwayGO:0380958.7TEC, BTK, IGHE
7immune responseGO:0069558.6IL4, IL5, IGLL1, IGHE, CCL7
8innate immune responseGO:0450877.8PRKCD, IGHE, BTK, TEC

Molecular functions related to B Cell Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1non-membrane spanning protein tyrosine kinase activityGO:0047158.7TEC, BTK, PRKCD

Products for genes affiliated with B Cell Deficiency

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Sources for B Cell Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet