MCID: BCL001
MIFTS: 30

B Cell Linker Protein Deficiency

Categories: Immune diseases

Aliases & Classifications for B Cell Linker Protein Deficiency

MalaCards integrated aliases for B Cell Linker Protein Deficiency:

Name: B Cell Linker Protein Deficiency 12 15
B-Cell Linker Protein Deficiency 12
B-Cell Linker Protein 13
Blnk Deficiency 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060027

Summaries for B Cell Linker Protein Deficiency

Disease Ontology : 12 A hypobammaglobulinemia that is a B cell deficiency that has material basis in a mutation in a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation.

MalaCards based summary : B Cell Linker Protein Deficiency, also known as b-cell linker protein deficiency, is related to interleukin-7 receptor alpha deficiency and severe combined immunodeficiency, x-linked. An important gene associated with B Cell Linker Protein Deficiency is BLNK (B Cell Linker), and among its related pathways/superpathways are Innate Immune System and GPCR Pathway. Affiliated tissues include b cells, and related phenotypes are endocrine/exocrine gland and hematopoietic system

Related Diseases for B Cell Linker Protein Deficiency

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



Diseases related to B Cell Linker Protein Deficiency

Symptoms & Phenotypes for B Cell Linker Protein Deficiency

MGI Mouse Phenotypes related to B Cell Linker Protein Deficiency:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.63 IL7 JAK3 LCP2 STAT5A STAT5B SYK
2 hematopoietic system MP:0005397 9.56 BLNK CD5 IL7 JAK3 LCP2 STAT5A
3 immune system MP:0005387 9.23 BLNK CD5 IL7 JAK3 LCP2 STAT5A

Drugs & Therapeutics for B Cell Linker Protein Deficiency

Search Clinical Trials , NIH Clinical Center for B Cell Linker Protein Deficiency

Genetic Tests for B Cell Linker Protein Deficiency

Anatomical Context for B Cell Linker Protein Deficiency

MalaCards organs/tissues related to B Cell Linker Protein Deficiency:

42
B Cells

Publications for B Cell Linker Protein Deficiency

Articles related to B Cell Linker Protein Deficiency:

# Title Authors Year
1
B Cell Linker Protein (BLNK) Is a Selective Target of Repression by PAX5-PML Protein in the Differentiation Block That Leads to the Development of Acute Lymphoblastic Leukemia. ( 26703467 )
2016
2
B-cell linker protein expression contributes to controlling allergic and autoimmune diseases by mediating IL-10 production in regulatory B cells. ( 23534976 )
2013
3
B-cell linker protein prevents aneuploidy by inhibiting cytokinesis. ( 19018766 )
2008
4
Receptor-facilitated antigen presentation requires the recruitment of B cell linker protein to Igalpha. ( 11859098 )
2002
5
Delayed cellular maturation and decreased immunoglobulin kappa light chain production in immature B lymphocytes lacking B cell linker protein. ( 12119344 )
2002
6
Hematopoietic progenitor kinase 1 associates physically and functionally with the adaptor proteins B cell linker protein and SLP-76 in lymphocytes. ( 11487585 )
2001
7
Src homology region 2 (SH2) domain-containing phosphatase-1 dephosphorylates B cell linker protein/SH2 domain leukocyte protein of 65 kDa and selectively regulates c-Jun NH2-terminal kinase activation in B cells. ( 10903736 )
2000
8
Cbl suppresses B cell receptor-mediated phospholipase C (PLC)-gamma2 activation by regulating B cell linker protein-PLC-gamma2 binding. ( 10684856 )
2000

Variations for B Cell Linker Protein Deficiency

Expression for B Cell Linker Protein Deficiency

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

Pathways for B Cell Linker Protein Deficiency

Pathways related to B Cell Linker Protein Deficiency according to GeneCards Suite gene sharing:

(show all 44)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 BLNK IL7 JAK3 LCP2 STAT5A STAT5B
2
Show member pathways
13.49 BLNK JAK3 LCP2 STAT5A STAT5B SYK
3
Show member pathways
13.16 IL7 JAK3 LCP2 STAT5A STAT5B SYK
4
Show member pathways
13.08 BLNK IL7 JAK3 STAT5A STAT5B SYK
5
Show member pathways
12.99 BLNK JAK3 STAT5A STAT5B SYK
6 12.65 IL7 JAK3 STAT5A STAT5B
7
Show member pathways
12.65 JAK3 LCP2 STAT5A STAT5B SYK
8
Show member pathways
12.57 IL7 JAK3 STAT5A STAT5B
9
Show member pathways
12.41 JAK3 STAT5A STAT5B
10
Show member pathways
12.4 BLNK LCP2 SYK
11
Show member pathways
12.22 JAK3 STAT5A STAT5B
12
Show member pathways
12.21 IL7 JAK3 STAT5A STAT5B
13 12.18 JAK3 STAT5A STAT5B
14
Show member pathways
12.16 JAK3 STAT5A STAT5B
15 12.06 JAK3 STAT5A STAT5B SYK
16
Show member pathways
12.05 JAK3 STAT5A STAT5B
17
Show member pathways
12.01 STAT5A STAT5B SYK
18
Show member pathways
11.97 JAK3 LCP2 SYK
19 11.95 BLNK JAK3 LCP2 STAT5A STAT5B SYK
20
Show member pathways
11.87 JAK3 STAT5A STAT5B
21 11.86 BLNK LCP2 SYK
22
Show member pathways
11.8 JAK3 STAT5A STAT5B SYK
23
Show member pathways
11.76 BLNK LCP2 SYK
24 11.69 JAK3 STAT5A STAT5B
25
Show member pathways
11.65 JAK3 STAT5A STAT5B SYK
26
Show member pathways
11.53 JAK3 STAT5A STAT5B
27 11.49 JAK3 STAT5A STAT5B
28 11.42 STAT5A STAT5B
29 11.38 STAT5A STAT5B
30 11.35 STAT5A STAT5B
31 11.34 JAK3 STAT5A
32 11.29 STAT5A STAT5B
33
Show member pathways
11.29 STAT5A STAT5B
34
Show member pathways
11.26 STAT5A STAT5B
35 11.23 BLNK JAK3
36
Show member pathways
11.23 JAK3 STAT5A STAT5B
37 11.18 JAK3 STAT5A STAT5B
38 11.13 JAK3 STAT5A
39
Show member pathways
11.12 IL7 JAK3 STAT5A STAT5B
40
Show member pathways
11.1 STAT5A STAT5B
41 10.9 STAT5A STAT5B
42
Show member pathways
10.88 JAK3 STAT5A STAT5B SYK
43 10.87 BLNK SYK
44 10.37 IL7 JAK3 STAT5A STAT5B

GO Terms for B Cell Linker Protein Deficiency

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 intracellular signal transduction GO:0035556 9.85 BLNK JAK3 LCP2 SYK
2 cytokine-mediated signaling pathway GO:0019221 9.81 IL7 JAK3 STAT5A STAT5B
3 peptidyl-tyrosine phosphorylation GO:0018108 9.67 JAK3 STAT5A STAT5B SYK
4 humoral immune response GO:0006959 9.59 BLNK IL7
5 lactation GO:0007595 9.58 STAT5A STAT5B
6 regulation of multicellular organism growth GO:0040014 9.58 STAT5A STAT5B
7 T cell homeostasis GO:0043029 9.57 JAK3 STAT5B
8 JAK-STAT cascade GO:0007259 9.56 STAT5A STAT5B
9 positive regulation of B cell differentiation GO:0045579 9.54 STAT5B SYK
10 enzyme linked receptor protein signaling pathway GO:0007167 9.52 JAK3 SYK
11 interleukin-15-mediated signaling pathway GO:0035723 9.5 JAK3 STAT5A STAT5B
12 response to interleukin-4 GO:0070670 9.49 JAK3 STAT5B
13 taurine metabolic process GO:0019530 9.48 STAT5A STAT5B
14 positive regulation of gamma-delta T cell differentiation GO:0045588 9.46 STAT5B SYK
15 response to interleukin-15 GO:0070672 9.43 JAK3 STAT5B
16 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.43 JAK3 STAT5A STAT5B
17 response to interleukin-2 GO:0070669 9.4 JAK3 STAT5B
18 interleukin-9-mediated signaling pathway GO:0038113 9.33 JAK3 STAT5A STAT5B
19 interleukin-7-mediated signaling pathway GO:0038111 9.26 IL7 JAK3 STAT5A STAT5B
20 interleukin-2-mediated signaling pathway GO:0038110 8.92 JAK3 STAT5A STAT5B SYK

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

# Name GO ID Score Top Affiliating Genes
1 non-membrane spanning protein tyrosine kinase activity GO:0004715 8.96 JAK3 SYK
2 protein tyrosine kinase activity GO:0004713 8.92 JAK3 STAT5A STAT5B SYK

Sources for B Cell Linker Protein Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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