MCID: INT029
MIFTS: 32

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 15
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 multiple sclerosis and b cell linker protein deficiency. An important gene associated with Interleukin-7 Receptor Alpha Deficiency is IL7 (Interleukin 7), and among its related pathways/superpathways are PEDF Induced Signaling and Akt Signaling. Affiliated tissues include t cells, thymus and lung, and related phenotypes are endocrine/exocrine gland and hematopoietic system

Related Diseases for Interleukin-7 Receptor Alpha Deficiency

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.81 CLEC16A CRLF2 DENND1B IL12RB2 IL2RA IL2RG
2 hematopoietic system MP:0005397 9.65 CRLF2 DENND1B FPR1 IL12RB2 IL2RA IL2RG
3 immune system MP:0005387 9.28 CRLF2 DENND1B FPR1 IL12RB2 IL2RA IL2RG

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:

41
T Cells, Thymus, Lung, B Cells, Thyroid

Publications for Interleukin-7 Receptor Alpha Deficiency

Articles related to Interleukin-7 Receptor Alpha Deficiency:

(show all 41)
# Title Authors Year
1
Plasma long noncoding RNA IL-7R as a prognostic biomarker for clinical outcomes in patients with acute respiratory distress syndrome. ( 28960939 )
2018
2
Trypanosoma cruzi-specific IFN-γ-producing cells in chronic Chagas disease associate with a functional IL-7/IL-7R axis. ( 30517089 )
2018
3
Downregulation of IL-7 and IL-7R Reduces Membrane-Type Matrix Metalloproteinase 14 in Granular Corneal Dystrophy Type 2 Keratocyte. ( 30489629 )
2018
4
IL-7R-mediated signaling in T-cell acute lymphoblastic leukemia: An update. ( 30249539 )
2018
5
Immunoregulation by IL-7R-targeting antibody-drug conjugates: overcoming steroid-resistance in cancer and autoimmune disease. ( 28878234 )
2017
6
Reduced IL-7R T Cell Expression and Increased Plasma sCD127 in Late Presenting HIV-Infected Individuals. ( 27509242 )
2017
7
The expression of lnc-IL-7R long non-coding RNA dramatically correlated with soluble and membrane-bound isoforms of IL-7Ra gene in multiple sclerosis patients. ( 28174058 )
2017
8
Gene variation in IL-7 receptor (IL-7R)α affects IL-7R response in CD4+ T cells in HIV-infected individuals. ( 28181541 )
2017
9
IL-15 sustains IL-7R-independent ILC2 and ILC3 development. ( 28361874 )
2017
10
Down-regulation of interleukin 7 receptor (IL-7R) contributes to central nervous system demyelination. ( 28415697 )
2017
11
A key role for IL-7R in the generation of microenvironments required for thymic dendritic cells. ( 28890536 )
2017
12
Forced expression of IL-7R promotes CD8 T cell cytotoxicity to self antigen. ( 29272267 )
2017
13
A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis. ( 27833609 )
2016
14
Transgenic 4-1BBL-engineered vaccine stimulates potent Gag-specific therapeutic and long-term immunity via increased priming of CD44(+)CD62L(high) IL-7R(+) CTLs with up- and downregulation of anti- and pro-apoptosis genes. ( 25195511 )
2015
15
IL-7R signaling in regulatory T cells maintains peripheral and allograft tolerance in mice. ( 26450881 )
2015
16
IL-7R-mediated signaling in T-cell acute lymphoblastic leukemia. ( 23234870 )
2013
17
Mutually exclusive regulation of T cell survival by IL-7R and antigen receptor-induced signals. ( 23591902 )
2013
18
IL-7/anti-IL-7 mAb complexes augment cytokine potency in mice through association with IgG-Fc and by competition with IL-7R. ( 23610371 )
2013
19
IL-7R α polymorphisms in 60 Iranian multiple sclerosis patients. ( 24250851 )
2012
20
IL-7R-dependent survival and differentiation of early T-lineage progenitors is regulated by the BTB/POZ domain transcription factor Miz-1. ( 21258009 )
2011
21
Editorial: Hijacking the IL-7/IL-7R system in HIV infection. ( 21454359 )
2011
22
Role of CXCR3 ligands in IL-7/IL-7R alpha-Fc-mediated antitumor activity in lung cancer. ( 21636553 )
2011
23
Homeostatic proliferation and IL-7R alpha expression do not correlate with enhanced T cell proliferation and protection in chronic mouse malaria. ( 22039531 )
2011
24
Interleukins (IL-7 and IL-7r) gene expression and thymoquinones role in the amelioration of eae symptoms - biomed 2010. ( 20467093 )
2010
25
IL-2 is positively involved in the development of colitogenic CD4+ IL-7R alpha high memory T cells in chronic colitis. ( 20623548 )
2010
26
CSL-MAML-dependent Notch1 signaling controls T lineage-specific IL-7R{alpha} gene expression in early human thymopoiesis and leukemia. ( 19349467 )
2009
27
Loss of IL-7R and IL-15R expression is associated with disappearance of memory T cells in respiratory tract following influenza infection. ( 18097017 )
2008
28
A function for IL-7R for CD4+CD25+Foxp3+ T regulatory cells. ( 18566388 )
2008
29
Non-redundant role for IL-7R signaling for the survival of CD8+ memory T cells. ( 17935075 )
2007
30
IL-7R alpha versus CCR7 and CD45 as markers of virus-specific CD8+ T cell differentiation: contrasting pictures in blood and tonsillar lymphoid tissue. ( 17191172 )
2007
31
Impaired CD8 T cell memory and CD4 T cell primary responses in IL-7R alpha mutant mice. ( 17325202 )
2007
32
Tumor-induced thymic involution via inhibition of IL-7R alpha and its JAK-STAT signaling pathway: protection by black tea. ( 16428079 )
2006
33
Overexpression of IL-7R alpha provides a competitive advantage during early T-cell development. ( 14592827 )
2004
34
Transient IL-7/IL-7R signaling provides a mechanism for feedback inhibition of immunoglobulin heavy chain gene rearrangements. ( 12594950 )
2003
35
Therapeutic approaches to chronic intestinal inflammation by specific targeting of mucosal IL-7/IL-7R signal pathway. ( 14561163 )
2003
36
Initiation of NALT organogenesis is independent of the IL-7R, LTbetaR, and NIK signaling pathways but requires the Id2 gene and CD3(-)CD4(+)CD45(+) cells. ( 12150889 )
2002
37
A critical role for IL-7R signaling in the development of Helicobacter felis-induced gastritis in mice. ( 11487542 )
2001
38
Murine pro-B cells require IL-7 and its receptor complex to up-regulate IL-7R alpha, terminal deoxynucleotidyltransferase, and c mu expression. ( 10657646 )
2000
39
TCR-gamma genes are rearranged but not transcribed in IL-7R alpha-deficient mice. ( 9190924 )
1997
40
Identification of novel lymphoid tissues in murine intestinal mucosa where clusters of c-kit+ IL-7R+ Thy1+ lympho-hemopoietic progenitors develop. ( 8879216 )
1996
41
Cell cycle control of c-kit+IL-7R+ B precursor cells by two distinct signals derived from IL-7 receptor and c-kit in a fully defined medium. ( 7543134 )
1995

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 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.52 CRLF2 IL12RB2 IL2RA IL2RG IL7 IL7R
2
Show member pathways
13.24 IL12RB2 IL2RA IL2RG IL7 IL7R JAK3
3
Show member pathways
13.13 FPR1 IL12RB2 IL2RA IL2RG IL7 IL7R
4
Show member pathways
12.8 IL2RA IL2RG IL7 IL7R JAK3
5
Show member pathways
12.57 IL2RA IL2RG IL7 IL7R JAK3
6 12.57 IL12RB2 IL2RA IL2RG IL7 IL7R JAK3
7
Show member pathways
12.41 IL12RB2 IL2RA IL2RG JAK3
8
Show member pathways
12.07 CRLF2 IL12RB2 IL2RA IL2RG IL7 IL7R
9
Show member pathways
11.97 IL2RA IL2RG JAK3
10 11.96 IL12RB2 IL2RA IL7R
11
Show member pathways
11.91 IL2RA IL2RG JAK3
12
Show member pathways
11.91 IL2RA IL2RG IL7 IL7R
13
Show member pathways
11.89 IL12RB2 IL2RG JAK3
14 11.81 IL2RA IL7 IL7R
15
Show member pathways
11.79 IL2RA IL2RG JAK3
16
Show member pathways
11.78 IL12RB2 IL2RA IL2RG
17 11.7 IL2RA IL7 IL7R
18 11.65 IL12RB2 IL2RA IL7R JAK3
19 11.56 CRLF2 IL12RB2 IL2RA IL7 IL7R
20
Show member pathways
11.51 IL2RA IL2RG JAK3
21 11.3 CRLF2 IL2RA IL7R
22 11.18 IL2RG IL7R JAK3
23 11.16 IL2RA IL2RG
24
Show member pathways
11.09 IL12RB2 IL2RA
25 11.07 IL2RG IL7 IL7R JAK3
26
Show member pathways
11.02 IL2RA IL2RG JAK3
27
Show member pathways
11.02 IL2RA IL2RG IL7 IL7R JAK3
28 10.68 CRLF2 IL12RB2 IL2RA IL2RG JAK3

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 receptor complex GO:0043235 9.13 CRLF2 IL12RB2 IL2RG
2 external side of plasma membrane GO:0009897 9.02 CRLF2 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 IL2RA IL2RG IL7 IL7R
2 T cell homeostasis GO:0043029 9.48 IL2RA JAK3
3 positive regulation of T cell differentiation GO:0045582 9.46 IL2RA IL7
4 interleukin-15-mediated signaling pathway GO:0035723 9.43 IL2RG JAK3
5 interleukin-9-mediated signaling pathway GO:0038113 9.4 IL2RG JAK3
6 interleukin-21-mediated signaling pathway GO:0038114 9.37 IL2RG JAK3
7 interleukin-7-mediated signaling pathway GO:0038111 9.35 CRLF2 IL2RG IL7 IL7R JAK3
8 interleukin-2-mediated signaling pathway GO:0038110 9.33 IL2RA IL2RG JAK3
9 interleukin-4-mediated signaling pathway GO:0035771 9.32 IL2RG JAK3
10 positive regulation of STAT cascade GO:1904894 9.26 CRLF2 IL7R
11 cytokine-mediated signaling pathway GO:0019221 9.23 CRLF2 FPR1 IL12RB2 IL2RA IL2RG IL7

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

# Name GO ID Score Top Affiliating Genes
1 Rab GTPase binding GO:0017137 9.58 CLEC16A DENND1B EVI5
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.54 IL2RA IL2RG JAK3
3 cytokine binding GO:0019955 9.5 CRLF2 IL12RB2 IL2RG
4 interleukin-2 binding GO:0019976 9.26 IL2RA IL2RG
5 interleukin-2 receptor activity GO:0004911 9.16 IL2RA IL2RG
6 interleukin-7 receptor activity GO:0004917 8.96 IL2RG IL7R
7 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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