MCID: BCL002
MIFTS: 42

B Cell Deficiency malady

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

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8Disease Ontology, 65Wikipedia, 33MalaCards
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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 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, nk cells and t 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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8Disease Ontology, 49Orphanet, 62UMLS, 27ICD9CM, 58SNOMED-CT, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Aliases & Descriptions:

b cell deficiency 8
immunoglobulin heavy chain deficiency 8 49 62
immunoglobulin heavy chain deletion 8
b cell deficiencies 8
humoral immune defect 62


External Ids:

Disease Ontology8 DOID:2115
ICD9CM27 279.03
ICD10 via Orphanet26 D80.8
SNOMED-CT58 190982008
SNOMED-CT via Orphanet59 234539005
UMLS via Orphanet63 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 70)
idRelated DiseaseScoreTop Affiliating Genes
1agammaglobulinemia30.4TEC, BTK
2bruton-type agammaglobulinemia30.0TEC, BTK
3ischemia10.2
4keratitis10.2
5agammaglobulinemia, x-linked 110.2
6autoimmune thyroiditis10.0
7bloom syndrome10.0
8cystic fibrosis10.0
9b cell linker protein deficiency10.0
10lambda 5 deficiency10.0
11immunoglobulin alpha deficiency10.0
12reticular dysgenesis10.0
13good syndrome10.0
14transcobalamin ii deficiency10.0
15giardiasis10.0
16biliary atresia10.0
17cartilage-hair hypoplasia10.0
18ataxia telangiectasia10.0
19netherton syndrome10.0
20mhc class ii deficiency10.0
21yellow nail syndrome10.0
22spondyloepimetaphyseal dysplasia, sponastrime type10.0
23lymphocytic choriomeningitis10.0
24poems syndrome10.0
25encephalomyelitis10.0
26eosinophilia10.0
27filariasis10.0
28herpes simplex10.0
29malaria10.0
30osteomyelitis10.0
31pulmonary eosinophilia10.0
32thymoma10.0
33thyroiditis10.0
34hereditary folate malabsorption10.0
35achondroplasia and severe combined immunodeficiency10.0
36allergic encephalomyelitis10.0
37aplasia cutis congenita intestinal lymphangiectasia10.0
38epilepsy telangiectasia10.0
39griscelli syndrome type 110.0
40hennekam syndrome10.0
41microcephalic primordial dwarfism toriello type10.0
42muscular fibrosis multifocal obstructed vessels10.0
43myelocerebellar disorder10.0
44natal teeth, intestinal pseudoobstruction and patent ductus10.0
45say barber miller syndrome10.0
46severe congenital neutropenia x-linked10.0
47vici syndrome10.0
48x-linked lymphoproliferative syndrome 210.0
49immunodeficiency due to defect in mapbp-interacting protein10.0
50severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation10.0

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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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center for B Cell Deficiency

Genetic Tests for B Cell Deficiency

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Anatomical Context for B Cell Deficiency

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33MalaCards
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MalaCards organs/tissues related to B Cell Deficiency:

33
B cells, Nk cells, T cells, Thyroid

Animal Models for B Cell Deficiency or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to B Cell Deficiency:

37
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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52PubMed
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Articles related to B Cell Deficiency:

(show all 43)
idTitleAuthorsYear
1
Novel spontaneous deletion of artemis exons 10 and 11 in mice leads to T- and B-cell deficiency. (24069355)
2013
2
B cell deficient mice are protected from biliary obstruction in the rotavirus-induced mouse model of biliary atresia. (23991203)
2013
3
A case of IgM deficiency with B cell deficiency detected by ABO discrepancy in a patient with acute osteomyelitis. (23667850)
2013
4
B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C I'. (23319571)
2013
5
T and B cell deficiency associated with yellow nail syndrome. (21995335)
2012
6
NK-cell and B-cell deficiency with a thymic mass. (21306273)
2011
7
Chronic B cell deficiency from birth prevents age-related alterations in the B lineage. (21810615)
2011
8
More on NK-cell and B-cell deficiency with a thymic mass. (21591963)
2011
9
Long-term immune deficiency after allogeneic stem cell transplantation: B-cell deficiency is associated with late infections. (20133894)
2010
10
B cell-deficient NOD.H-2h4 mice have CD4+CD25+ T regulatory cells that inhibit the development of spontaneous autoimmune thyroiditis. (16446379)
2006
11
Effects of combined T- and B-cell deficiency on murine ischemia reperfusion injury. (15888022)
2005
12
B-cell deficiency and reduced B-cell reconstitution in hemoglobin-deficit mice. (14662329)
2003
13
B cell deficiency confers protection from renal ischemia reperfusion injury. (12960350)
2003
14
A case of severe B cell deficiency after allogeneic stem cell transplantation. (12235525)
2002
15
B-cell deficiency and type 1 diabetes. (11844863)
2002
16
Successful immunosuppressive therapy with cyclosporine A for posthepatitis B-cell deficiency with activated cytoplasmic interferon--gamma-positive T-lymphocytes. (11999357)
2002
17
B-cell deficiency and type 1 diabetes. (11858222)
2002
18
Novel Igalpha (CD79a) gene mutation in a Turkish patient with B cell- deficient agammaglobulinemia. (11920841)
2002
19
B-cell deficiency suppresses vaccine-induced protection against murine filariasis but does not increase the recovery rate for primary infection. (11598082)
2001
20
Identification of a novel receptor for B lymphocyte stimulator that is mutated in a mouse strain with severe B cell deficiency. (11591325)
2001
21
B-Cell deficiency predisposes mice to disseminating anaerobic infections: protection by passive antibody transfer. (10992465)
2000
22
A quantitative-trait locus controlling peripheral B-cell deficiency maps to mouse Chromosome 15. (11003386)
2000
23
Severe B cell deficiency in mice lacking the tec kinase family members Tec and Btk. (11104803)
2000
24
Microphthalmic mice display a B cell deficiency similar to that seen for mast and NK cells. (10586063)
1999
25
Resistance to herpetic stromal keratitis in immunized B-cell-deficient mice. (10208930)
1999
26
Antigen-induced airway hyperresponsiveness, pulmonary eosinophilia, and chemokine expression in B cell-deficient mice. (10030835)
1999
27
B-cell-deficient mice develop experimental allergic encephalomyelitis with demyelination after myelin oligodendrocyte glycoprotein sensitization. (9794370)
1998
28
Requirements for allergen-induced airway hyperreactivity in T and B cell-deficient mice. (9642684)
1998
29
Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia. (9419212)
1998
30
Severe B cell deficiency and disrupted splenic architecture in transgenic mice expressing the E41K mutated form of Bruton's tyrosine kinase. (9736610)
1998
31
B-cell deficiency does not abrogate development of cutaneous hyperplasia in mice inheriting the defective fibrillin-1 gene. (9451590)
1997
32
B cell-deficient muMT mice as an experimental model for Mycoplasma infections in X-linked agammaglobulinemia. (9295053)
1997
33
A pronounced thymic B cell deficiency in the spontaneously diabetic BB rat. (9164980)
1997
34
Analysis of T cell receptor V beta gene expression in B cell deficient mice after experimental herpes simplex virus keratitis. (9385402)
1997
35
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
36
The resolution of acute malaria in a definitive model of B cell deficiency, the JHD mouse. (8157969)
1994
37
The Yaa gene-dependent B-cell deficiency worsens the generalized lymphadenopathy and autoimmunity of C57BL/6-gld male mice. (7835973)
1994
38
Intestinal intraepithelial gamma/delta T cells in B-cell deficiency. (8167738)
1993
39
B cell deficiency progresses with lineage maturation in nude.X-linked immunodeficient mice B cell deficiency progresses with lineage maturation. (1385525)
1992
40
Chronic giardiasis in B-cell-deficient mice expressing the xid gene. (3262587)
1988
41
Experimental model of B-cell deficiency in mice. (6966610)
1980
42
Effect of lipopolysaccharide on immunogenicity and tolerogenicity of HGG in C57BL/6J nude mice: evidence for a possible B cell deficiency. (72110)
1977
43
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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2BioGPS, 15Gene Expression Omnibus DataSets
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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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50PathCards, 38NCBI BioSystems Database, 30KEGG, 5Cell Signaling Technology, 53QIAGEN, 55Reactome, 60Thomson Reuters, 57SinoBiological, 54R&D Systems
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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
39.1BTK, TEC
4
Show member pathways
BCR signaling pathway38
TCR Signaling Pathway38
9.1BTK, TEC
5
Show member pathways
9.1BTK, TEC
6
Show member pathways
9.1BTK, TEC
79.1BTK, TEC
89.1TEC, BTK
9
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)38
9.1TEC, BTK
10
Show member pathways
EPO Receptor Signaling38
EPO signaling pathway38
9.1BTK, TEC
119.1TEC, BTK
12
Show member pathways
9.1BTK, TEC
139.0BTK, TNFRSF13C
14
Show member pathways
9.0BTK, TNFRSF13C
15
Show member pathways
9.0BTK, TNFRSF13C
168.5BTK, TNFRSF13C, IGLL1
17
Show member pathways
8.5BTK, TNFRSF13C, TEC

Compounds for genes affiliated with B Cell Deficiency

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45Novoseek, 24HMDB, 51PharmGKB, 11DrugBank
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Compounds related to B Cell Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phosphatidylinositol-3,4,5-trisphosphate45 2410.2BTK, TEC
2fibrinogen459.2BTK, TEC
3wortmannin459.1BTK, TEC
4phosphoinositide459.0TEC, BTK
5proline458.8BTK, TEC
6calcium45 51 24 1111.5BTK, TNFRSF13C, TEC

GO Terms for genes affiliated with B Cell Deficiency

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16Gene Ontology
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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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet