MCID: INT029
MIFTS: 30

Interleukin-7 Receptor Alpha Deficiency

Categories: Immune diseases

Aliases & Classifications for Interleukin-7 Receptor Alpha Deficiency

MalaCards integrated aliases for Interleukin-7 Receptor Alpha Deficiency:

Name: Interleukin-7 Receptor Alpha Deficiency 12 14
Il-7r 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060015

Summaries for Interleukin-7 Receptor Alpha Deficiency

Disease Ontology : 12 A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus.

MalaCards based summary : Interleukin-7 Receptor Alpha Deficiency, also known as il-7r, is related to b cell linker protein deficiency and hypersplenism. An important gene associated with Interleukin-7 Receptor Alpha Deficiency is IL7R (Interleukin 7 Receptor), and among its related pathways/superpathways are PEDF Induced Signaling and Akt Signaling. Affiliated tissues include t cells and thymus, and related phenotypes are endocrine/exocrine gland and hematopoietic system

Related Diseases for Interleukin-7 Receptor Alpha Deficiency

Diseases related to Interleukin-7 Receptor Alpha Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 b cell linker protein deficiency 10.2 IL7 JAK3
2 hypersplenism 10.2 IL2RA IL7R
3 immune deficiency disease 10.1 IL2RA IL2RG IL7
4 leukemia 10.0
5 lymphopenia 10.0 IL2RA IL2RG IL7 IL7R
6 thymic dysplasia 10.0 IL2RG IL7
7 severe combined immunodeficiency, x-linked 9.9 IL2RG IL7 IL7R JAK3
8 severe combined immunodeficiency 9.9 IL2RG IL7 IL7R JAK3
9 multiple sclerosis 9.9 CLEC16A IL2RA IL7 IL7R
10 small cell cancer of the lung 9.8
11 lung cancer 9.8
12 acute leukemia 9.8
13 lymphoma 9.8
14 optic neuritis 9.8
15 neuritis 9.8
16 adenocarcinoma 9.8
17 combined immunodeficiency, x-linked 9.8 IL2RA IL2RG IL7 IL7R JAK3

Graphical network of the top 20 diseases related to Interleukin-7 Receptor Alpha Deficiency:



Diseases related to Interleukin-7 Receptor Alpha Deficiency

Symptoms & Phenotypes for Interleukin-7 Receptor Alpha Deficiency

MGI Mouse Phenotypes related to Interleukin-7 Receptor Alpha Deficiency:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.76 CLEC16A CRLF2 IL12RB2 IL2RA IL2RG IL7
2 hematopoietic system MP:0005397 9.65 CRLF2 CXCR5 DENND1B FPR1 IL12RB2 IL2RA
3 immune system MP:0005387 9.32 CRLF2 CXCR5 DENND1B FPR1 IL12RB2 IL2RA

Drugs & Therapeutics for Interleukin-7 Receptor Alpha Deficiency

Search Clinical Trials , NIH Clinical Center for Interleukin-7 Receptor Alpha Deficiency

Genetic Tests for Interleukin-7 Receptor Alpha Deficiency

Anatomical Context for Interleukin-7 Receptor Alpha Deficiency

MalaCards organs/tissues related to Interleukin-7 Receptor Alpha Deficiency:

38
T Cells, Thymus

Publications for Interleukin-7 Receptor Alpha Deficiency

Articles related to Interleukin-7 Receptor Alpha Deficiency:

(show all 21)
# Title Authors Year
1
Immunophenotyping with CD135 and CD117 predicts the FLT3, IL-7R and TLX3 gene mutations in childhood T-cell acute leukemia. ( 26852660 )
2016
2
Clinical impact of immune microenvironment in stage I lung adenocarcinoma: tumor interleukin-12 receptor I^2 (IL-12RI^2), IL-7R, and stromal FoxP3/CD3 ratio are independent predictors of recurrence. ( 23269987 )
2013
3
The role of SNPs in the I+-chain of the IL-7R gene in CD4+ T-cell recovery in HIV-infected African patients receiving suppressive cART. ( 21938017 )
2012
4
IL-7R expression and IL-7 signaling confer a distinct phenotype on developing human B-lineage cells. ( 21680796 )
2011
5
Lack of associations of polymorphisms of IL-7R, IL-13 and IL-15 with NSCLCs in non-smoking Chinese. ( 22471460 )
2011
6
[Study on the association between IL-2R and IL-7R gene polymorphism and idiopathic demyelinating optic neuritis]. ( 21211217 )
2010
7
[The expressions of IL-7 and IL-7R and the relationship between them with lymph node metastasis and prognosis in non-small cell lung cancer]. ( 21159243 )
2010
8
Soluble IL-7R alpha (sCD127) inhibits IL-7 activity and is increased in HIV infection. ( 20304824 )
2010
9
Increased bone marrow interleukin-7 (IL-7)/IL-7R levels but reduced IL-7 responsiveness in HIV-positive patients lacking CD4+ gain on antiviral therapy. ( 21209878 )
2010
10
Functional coexpression of Interleukin (IL)-7 and its receptor (IL-7R) on Hodgkin and Reed-Sternberg cells: Involvement of IL-7 in tumor cell growth and microenvironmental interactions of Hodgkin's lymphoma. ( 19391137 )
2009
11
Identification and biochemical characterization of human plasma soluble IL-7R: lower concentrations in HIV-1-infected patients. ( 19494261 )
2009
12
CSL-MAML-dependent Notch1 signaling controls T lineage-specific IL-7R{alpha} gene expression in early human thymopoiesis and leukemia. ( 19349467 )
2009
13
MEK1/2 induces STAT5-mediated germline transcription of the TCRgamma locus in response to IL-7R signaling. ( 18566415 )
2008
14
Antigen controls IL-7R alpha expression levels on CD8 T cells during full activation or tolerance induction. ( 18250416 )
2008
15
A new subset of human naive CD8+ T cells defined by low expression of IL-7R alpha. ( 17579041 )
2007
16
Interleukin-2 enhances CD4+ T cell memory by promoting the generation of IL-7R alpha-expressing cells. ( 17312008 )
2007
17
Do CD8 effector cells need IL-7R expression to become resting memory cells? ( 16705084 )
2006
18
HIV regulation of the IL-7R: a viral mechanism for enhancing HIV-1 replication in human macrophages in vitro. ( 16614257 )
2006
19
IL-7R alpha gene expression is inversely correlated with cell cycle progression in IL-7-stimulated T lymphocytes. ( 16709829 )
2006
20
Interleukin-7 (IL-7) and IL-7 receptor (IL-7R) signalling complex in human solid tumours. ( 12792903 )
2003
21
Functional interleukin-7 receptors (IL-7Rs) are expressed by marrow stromal cells: binding of IL-7 increases levels of IL-6 mRNA and secreted protein. ( 12149213 )
2002

Variations for Interleukin-7 Receptor Alpha Deficiency

Expression for Interleukin-7 Receptor Alpha Deficiency

Search GEO for disease gene expression data for Interleukin-7 Receptor Alpha Deficiency.

Pathways for Interleukin-7 Receptor Alpha Deficiency

Pathways related to Interleukin-7 Receptor Alpha Deficiency according to GeneCards Suite gene sharing:

(show all 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.45 CRLF2 CXCR5 IL12RB2 IL2RA IL2RG IL7
2
Show member pathways
13.21 CXCR5 IL12RB2 IL2RA IL2RG IL7 IL7R
3
Show member pathways
13.13 CXCR5 IL12RB2 IL2RA IL2RG IL7 IL7R
4
Show member pathways
13.11 FPR1 IL12RB2 IL2RA IL2RG IL7 IL7R
5
Show member pathways
12.79 IL2RA IL2RG IL7 IL7R JAK3
6 12.57 IL12RB2 IL2RA IL2RG IL7 IL7R JAK3
7
Show member pathways
12.55 IL2RA IL2RG IL7 IL7R JAK3
8
Show member pathways
12.42 IL12RB2 IL2RA IL2RG JAK3
9
Show member pathways
11.98 IL2RA IL2RG JAK3
10
Show member pathways
11.91 IL2RA IL2RG JAK3
11
Show member pathways
11.88 CRLF2 IL12RB2 IL2RA IL2RG IL7 IL7R
12 11.82 IL2RA IL7 IL7R
13
Show member pathways
11.8 IL2RA IL2RG JAK3
14
Show member pathways
11.79 IL12RB2 IL2RA IL2RG
15 11.71 IL2RA IL7 IL7R
16
Show member pathways
11.67 CXCR5 IL2RG JAK3
17 11.64 IL12RB2 IL2RA IL7R JAK3
18
Show member pathways
11.5 IL2RA IL2RG JAK3
19 11.32 CRLF2 IL12RB2 IL2RA IL2RG JAK3
20
Show member pathways
11.2 IL2RA IL2RG IL7 IL7R JAK3
21
Show member pathways
11.18 IL2RA IL2RG
22 11.15 IL2RG IL7R JAK3
23 11.14 IL2RA IL2RG
24 11.07 IL2RG IL7 IL7R JAK3
25 11.01 IL12RB2 IL2RA
26 11 CRLF2 CXCR5 IL12RB2 IL2RA IL7 IL7R

GO Terms for Interleukin-7 Receptor Alpha Deficiency

Cellular components related to Interleukin-7 Receptor Alpha Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.02 CXCR5 IL12RB2 IL2RA IL2RG IL7R

Biological processes related to Interleukin-7 Receptor Alpha Deficiency according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.8 CXCR5 IL2RA IL2RG IL7 IL7R
2 T cell homeostasis GO:0043029 9.49 IL2RA JAK3
3 positive regulation of T cell differentiation GO:0045582 9.48 IL2RA IL7
4 lymph node development GO:0048535 9.46 CXCR5 IL7R
5 interleukin-15-mediated signaling pathway GO:0035723 9.43 IL2RG JAK3
6 interleukin-9-mediated signaling pathway GO:0038113 9.37 IL2RG JAK3
7 cytokine-mediated signaling pathway GO:0019221 9.35 CRLF2 IL12RB2 IL2RG IL7 IL7R
8 interleukin-4-mediated signaling pathway GO:0035771 9.32 IL2RG JAK3
9 interleukin-2-mediated signaling pathway GO:0038110 9.26 IL2RA IL2RG
10 positive regulation of STAT cascade GO:1904894 9.16 CRLF2 IL7R
11 interleukin-7-mediated signaling pathway GO:0038111 9.02 CRLF2 IL2RG IL7 IL7R JAK3

Molecular functions related to Interleukin-7 Receptor Alpha Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.5 IL2RA IL2RG JAK3
2 interleukin-2 receptor activity GO:0004911 9.26 IL2RA IL2RG
3 interleukin-2 binding GO:0019976 9.16 IL2RA IL2RG
4 interleukin-7 receptor activity GO:0004917 8.96 IL2RG IL7R
5 cytokine receptor activity GO:0004896 8.92 CRLF2 IL12RB2 IL2RG IL7R

Sources for Interleukin-7 Receptor Alpha Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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