MCID: BCL002
MIFTS: 43

B Cell Deficiency malady

Blood diseases, Rare diseases, Immune diseases categories
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Summaries for B Cell Deficiency

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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 based summary: B Cell Deficiency, also known as immunoglobulin heavy chain deficiency, is related to agammaglobulinemia and bruton-type agammaglobulinemia. An important gene associated with B Cell Deficiency is IGLL1 (immunoglobulin lambda-like polypeptide 1), and among its related pathways are B Cell Receptor Signaling Pathway and Osteoclast differentiation. The compounds phosphatidylinositol-3,4,5-trisphosphate and fibrinogen have been mentioned in the context of this disorder. Affiliated tissues include b cells, t cells and nk cells, and related mouse phenotypes are immune system and hematopoietic system.

Wikipedia:65 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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Sources:
8Disease Ontology, 48Orphanet, 62UMLS, 57SNOMED-CT, 27ICD9CM, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

B Cell Deficiency, Aliases & Descriptions:

Name: B Cell Deficiency 8
Immunoglobulin Heavy Chain Deficiency 8 48 62
Immunoglobulin Heavy Chain Deletion 8
 
B Cell Deficiencies 8
Humoral Immune Defect 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:2115
ICD9CM27 279.03
SNOMED-CT57 190982008
ICD10 via Orphanet26 D80.8
UMLS via Orphanet63 C0398692

Related Diseases for B Cell Deficiency

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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 71)
idRelated DiseaseScoreTop Affiliating Genes
1agammaglobulinemia30.4BTK, TEC
2bruton-type agammaglobulinemia29.9BTK, TEC
3ischemia10.2
4keratitis10.2
5agammaglobulinemia, x-linked 110.2
6alopecia10.0
7ataxia telangiectasia10.0
8cystic fibrosis10.0
9malaria10.0
10myasthenia gravis10.0
11autoimmune thyroiditis10.0
12bloom syndrome10.0
13cartilage-hair hypoplasia10.0
14poems syndrome10.0
15biliary atresia10.0
16spondyloepimetaphyseal dysplasia, sponastrime type10.0
17mhc class ii deficiency10.0
18transcobalamin ii deficiency10.0
19netherton syndrome10.0
20yellow nail syndrome10.0
21lymphocytic choriomeningitis10.0
22b cell linker protein deficiency10.0
23immunoglobulin alpha deficiency10.0
24lambda 5 deficiency10.0
25reticular dysgenesis10.0
26good syndrome10.0
27giardiasis10.0
28arteriosclerosis10.0
29endometriosis10.0
30eosinophilia10.0
31herpes simplex10.0
32osteomyelitis10.0
33pulmonary eosinophilia10.0
34t cell deficiency10.0
35thymoma10.0
36thyroiditis10.0
37hereditary folate malabsorption10.0
38achondroplasia and severe combined immunodeficiency10.0
39allergic encephalomyelitis10.0
40aplasia cutis congenita intestinal lymphangiectasia10.0
41daentl towsend siegel syndrome10.0
42epilepsy telangiectasia10.0
43griscelli syndrome type 110.0
44microcephalic primordial dwarfism toriello type10.0
45muscular fibrosis multifocal obstructed vessels10.0
46myelocerebellar disorder10.0
47natal teeth, intestinal pseudoobstruction and patent ductus10.0
48say barber miller syndrome10.0
49severe congenital neutropenia x-linked10.0
50vici syndrome10.0

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



Diseases related to b cell deficiency

Symptoms for B Cell Deficiency

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Drugs & Therapeutics for B Cell Deficiency

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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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MalaCards organs/tissues related to B Cell Deficiency:

32
B cells, T cells, Nk cells, Lung, Thyroid

Animal Models for B Cell Deficiency or affiliated genes

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MGI Mouse Phenotypes related to B Cell Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.0BTK, TNFRSF13C, IGLL1, TEC
2MP:00053977.7BTK, TNFRSF13C, IGLL1, TEC

Publications for B Cell Deficiency

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Articles related to B Cell Deficiency:

(show all 48)
idTitleAuthorsYear
1
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
2
Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100. (25237204)
2014
3
NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene. (25038527)
2014
4
Novel spontaneous deletion of artemis exons 10 and 11 in mice leads to T- and B-cell deficiency. (24069355)
2013
5
B cell deficient mice are protected from biliary obstruction in the rotavirus-induced mouse model of biliary atresia. (23991203)
2013
6
A case of IgM deficiency with B cell deficiency detected by ABO discrepancy in a patient with acute osteomyelitis. (23667850)
2013
7
B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C I'. (23319571)
2013
8
T and B cell deficiency associated with yellow nail syndrome. (21995335)
2012
9
NK-cell and B-cell deficiency with a thymic mass. (21306273)
2011
10
Chronic B cell deficiency from birth prevents age-related alterations in the B lineage. (21810615)
2011
11
More on NK-cell and B-cell deficiency with a thymic mass. (21591963)
2011
12
Long-term immune deficiency after allogeneic stem cell transplantation: B-cell deficiency is associated with late infections. (20133894)
2010
13
B cell-deficient NOD.H-2h4 mice have CD4+CD25+ T regulatory cells that inhibit the development of spontaneous autoimmune thyroiditis. (16446379)
2006
14
Effects of combined T- and B-cell deficiency on murine ischemia reperfusion injury. (15888022)
2005
15
Mucosal B cell deficiency in IgA-/- mice abrogates the development of allergic lung inflammation. (16002732)
2005
16
B-cell deficiency and reduced B-cell reconstitution in hemoglobin-deficit mice. (14662329)
2003
17
B cell deficiency confers protection from renal ischemia reperfusion injury. (12960350)
2003
18
A case of severe B cell deficiency after allogeneic stem cell transplantation. (12235525)
2002
19
B-cell deficiency and type 1 diabetes. (11844863)
2002
20
Successful immunosuppressive therapy with cyclosporine A for posthepatitis B-cell deficiency with activated cytoplasmic interferon--gamma-positive T-lymphocytes. (11999357)
2002
21
B-cell deficiency and type 1 diabetes. (11858222)
2002
22
Novel Igalpha (CD79a) gene mutation in a Turkish patient with B cell- deficient agammaglobulinemia. (11920841)
2002
23
Identification of a novel receptor for B lymphocyte stimulator that is mutated in a mouse strain with severe B cell deficiency. (11591325)
2001
24
B-Cell deficiency predisposes mice to disseminating anaerobic infections: protection by passive antibody transfer. (10992465)
2000
25
A quantitative-trait locus controlling peripheral B-cell deficiency maps to mouse Chromosome 15. (11003386)
2000
26
Severe B cell deficiency in mice lacking the tec kinase family members Tec and Btk. (11104803)
2000
27
Microphthalmic mice display a B cell deficiency similar to that seen for mast and NK cells. (10586063)
1999
28
Resistance to herpetic stromal keratitis in immunized B-cell-deficient mice. (10208930)
1999
29
Antigen-induced airway hyperresponsiveness, pulmonary eosinophilia, and chemokine expression in B cell-deficient mice. (10030835)
1999
30
B-cell-deficient mice develop experimental allergic encephalomyelitis with demyelination after myelin oligodendrocyte glycoprotein sensitization. (9794370)
1998
31
The effect of B cell deficiency on the immune response to acetylcholine receptor and the development of experimental autoimmune myasthenia gravis. (9646836)
1998
32
Requirements for allergen-induced airway hyperreactivity in T and B cell-deficient mice. (9642684)
1998
33
Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia. (9419212)
1998
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
B-cell deficiency does not abrogate development of cutaneous hyperplasia in mice inheriting the defective fibrillin-1 gene. (9451590)
1997
36
B cell-deficient muMT mice as an experimental model for Mycoplasma infections in X-linked agammaglobulinemia. (9295053)
1997
37
A pronounced thymic B cell deficiency in the spontaneously diabetic BB rat. (9164980)
1997
38
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
39
Analysis of T cell receptor V beta gene expression in B cell deficient mice after experimental herpes simplex virus keratitis. (9385402)
1997
40
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
41
The resolution of acute malaria in a definitive model of B cell deficiency, the JHD mouse. (8157969)
1994
42
The Yaa gene-dependent B-cell deficiency worsens the generalized lymphadenopathy and autoimmunity of C57BL/6-gld male mice. (7835973)
1994
43
Intestinal intraepithelial gamma/delta T cells in B-cell deficiency. (8167738)
1993
44
B cell deficiency progresses with lineage maturation in nude.X-linked immunodeficient mice B cell deficiency progresses with lineage maturation. (1385525)
1992
45
Chronic giardiasis in B-cell-deficient mice expressing the xid gene. (3262587)
1988
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

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Expression for genes affiliated with B Cell Deficiency

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Expression patterns in normal tissues for genes affiliated with B Cell Deficiency

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Pathways for genes affiliated with B Cell Deficiency

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Pathways related to B Cell Deficiency according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1TEC, BTK
29.1BTK, TEC
39.1TEC, BTK
4
Show member pathways
BCR signaling pathway37
TCR Signaling Pathway37
9.1TEC, BTK
5
Show member pathways
9.1TEC, BTK
6
Show member pathways
9.1TEC, BTK
79.1TEC, BTK
89.1TEC, BTK
9
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)37
9.1TEC, BTK
10
Show member pathways
EPO Receptor Signaling37
EPO signaling pathway37
9.1TEC, BTK
119.1TEC, BTK
12
Show member pathways
9.1TEC, BTK
139.0TNFRSF13C, BTK
14
Show member pathways
9.0BTK, TNFRSF13C
15
Show member pathways
9.0TNFRSF13C, BTK
168.5BTK, TNFRSF13C, IGLL1
17
Show member pathways
8.5BTK, TNFRSF13C, TEC

Compounds for genes affiliated with B Cell Deficiency

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Sources:
44Novoseek, 24HMDB, 50PharmGKB, 11DrugBank
See all sources

Compounds related to B Cell Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phosphatidylinositol-3,4,5-trisphosphate44 2410.2BTK, TEC
2fibrinogen449.2BTK, TEC
3wortmannin449.1BTK, TEC
4phosphoinositide449.0TEC, BTK
5proline448.8BTK, TEC
6calcium44 50 24 1111.5BTK, TNFRSF13C, TEC

GO Terms for genes affiliated with B Cell Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1B cell receptor signaling pathwayGO:0508539.1BTK, TEC
2protein phosphorylationGO:0064689.1BTK, TEC
3Fc-epsilon receptor signaling pathwayGO:0380959.0BTK, TEC
4intracellular signal transductionGO:0355568.8BTK, TEC

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

idNameGO IDScoreTop Affiliating Genes
1non-membrane spanning protein tyrosine kinase activityGO:0047159.1BTK, TEC

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet