MCID: INT029
MIFTS: 28

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 t-cell acute lymphoblastic leukemia and leukemia, acute lymphoblastic. An important gene associated with Interleukin-7 Receptor Alpha Deficiency is IL7 (Interleukin 7), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Pathways in cancer. The drugs Methotrexate and Hydroxychloroquine have been mentioned in the context of this disorder. Affiliated tissues include t cells, thymus and bone marrow, and related phenotype is no phenotypic analysis.

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 top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 t-cell acute lymphoblastic leukemia 30.0 IL7 BCL2L11
2 leukemia, acute lymphoblastic 30.0 IL7 BCL2L11
3 t-b- severe combined immunodeficiency 11.2
4 precursor t-cell acute lymphoblastic leukemia 10.3
5 leukemia 10.3
6 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
7 b-lymphoblastic leukemia/lymphoma 10.2
8 severe combined immunodeficiency 10.2
9 autoimmune disease 10.1
10 multiple sclerosis 10.1
11 small cell cancer of the lung 10.1
12 lung cancer susceptibility 3 10.1
13 combined immunodeficiency 10.1
14 chagas disease 10.1
15 human immunodeficiency virus infectious disease 10.1
16 breast cancer 10.0
17 rheumatoid arthritis 10.0
18 zinc finger protein 1 10.0
19 lung cancer 10.0
20 lymphoma, hodgkin, classic 10.0
21 thymoma, familial 10.0
22 dermatitis, atopic 10.0
23 myocardial infarction 10.0
24 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive 10.0
25 human immunodeficiency virus type 1 10.0
26 malaria 10.0
27 disease by infectious agent 10.0
28 inflammatory bowel disease 10.0
29 colitis 10.0
30 lymphoblastic lymphoma 10.0
31 tetanus 10.0
32 adult respiratory distress syndrome 10.0
33 listeriosis 10.0
34 optic neuritis 10.0
35 granular corneal dystrophy 10.0
36 acute leukemia 10.0
37 neuritis 10.0
38 corneal dystrophy 10.0
39 dermatitis 10.0
40 adenocarcinoma 10.0
41 demyelinating disease 10.0
42 thymoma 10.0
43 gastritis 10.0
44 adult acute lymphocytic leukemia 10.0
45 lymphoepithelioma-like carcinoma 10.0
46 lymphopenia 10.0
47 t-cell lymphoblastic leukemia/lymphoma 10.0
48 arthritis 10.0
49 atrophic gastritis 10.0
50 diabetes mellitus 10.0

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 no phenotypic analysis MP:0003012 8.62 BCL2L11 IL7

Drugs & Therapeutics for Interleukin-7 Receptor Alpha Deficiency

Drugs for Interleukin-7 Receptor Alpha Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
2
Hydroxychloroquine Approved Phase 4 118-42-3 3652
3
Adalimumab Approved, Experimental Phase 4 331731-18-1 16219006
4
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
5
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
6
Certolizumab pegol Approved Phase 4 428863-50-7
7
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
8
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
9
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
10
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
11
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
12
Sulfasalazine Approved Phase 4 599-79-1 5359476 5353980
13
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
14
Etanercept Approved, Investigational Phase 4 185243-69-0
15
Leflunomide Approved, Investigational Phase 4 75706-12-6 3899
16
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
17
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
18
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
19 Vitamin B9 Phase 4
20 Folic Acid Antagonists Phase 4
21 Gastrointestinal Agents Phase 4
22 Analgesics, Non-Narcotic Phase 4
23 Hormone Antagonists Phase 4
24 glucocorticoids Phase 4
25 Antirheumatic Agents Phase 4
26 Analgesics Phase 4
27 Methylprednisolone Acetate Phase 4
28 Hormones Phase 4
29 Immunosuppressive Agents Phase 4
30 Cyclooxygenase Inhibitors Phase 4
31 Triamcinolone diacetate Phase 4
32 Antineoplastic Agents, Hormonal Phase 4
33 Immunologic Factors Phase 4
34 Vitamin B Complex Phase 4
35 Anti-Inflammatory Agents Phase 4
36 Dermatologic Agents Phase 4
37 triamcinolone acetonide Phase 4
38 Folate Phase 4
39 Antimalarials Phase 4
40 Antiparasitic Agents Phase 4
41 Antimetabolites Phase 4
42 Anti-Infective Agents Phase 4
43 Triamcinolone hexacetonide Phase 4
44 Antiprotozoal Agents Phase 4
45 Anti-Inflammatory Agents, Non-Steroidal Phase 4
46 Interleukin-2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 IL-7 and IL-7R Expression in Peripheral Blood Mononuclear Cells, Peripheral Blood Monocytes or Differentiated Macrophages of Rheumatoid Arthritis Patients With Active vs. Inactive Disease Treated With DMARD and/or CIMZIA Completed NCT02451748 Phase 4 Certolizumab pegol (CDP870, tradename Cimzia)(prefilled syringes at the dose of 200mg);Certolizumab pegol (CDP870, tradename Cimzia);Hydroxychloroquine;Sulfasalazine;Medrol;Prednisone;Triamcinolone;Naproxen;Leflunomide;Methotrexate;humira
2 Association of Polymorphisms of the Interleukin-7 Receptor-α (IL-7R), Glypican 5 (GPC5), Interleukin-2 Receptor-α (IL2-RA) , Human Leukocyte Antigen Class II Beta Chain (HLA-DRB1) Genes and Treatment Response in Multiple Sclerosis (MS). Unknown status NCT02769767

Search 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:

40
T Cells, Thymus, Bone Marrow, B Cells, Monocytes, Myeloid, Spleen

Publications for Interleukin-7 Receptor Alpha Deficiency

Articles related to Interleukin-7 Receptor Alpha Deficiency:

(show top 50) (show all 742)
# Title Authors PMID Year
1
Interleukin-7/Interferon Axis Drives T Cell and Salivary Gland Epithelial Cell Interactions in Sjögren's Syndrome. 61
33058491 2021
2
The lncRNA Snhg1-Vps13D vesicle trafficking system promotes memory CD8 T cell establishment via regulating the dual effects of IL-7 signaling. 61
33758164 2021
3
Med1 controls CD8 T cell maintenance through IL-7R-mediated cell survival signalling. 61
33733611 2021
4
Lymphopenia-induced lymphoproliferation drives activation of naive T cells and expansion of regulatory populations. 61
33665580 2021
5
The unbalanced p53/SIRT1 axis may impact lymphocyte homeostasis in COVID-19 patients. 61
33578018 2021
6
Lymphopenia in primary Sjögren's syndrome is associated with premature aging of naïve CD4+ T cells. 61
32227243 2021
7
TSLP and IL-7R Variants Are Associated with Persistent Atopic Dermatitis. 61
32712161 2021
8
The functions of IL-23 and IL-2 on driving autoimmune effector T-helper 17 cells into the memory pool in dry eye disease. 61
32327706 2021
9
Mutations that collaborate with IL-7Ra signaling pathways to drive ALL. 61
33578108 2021
10
Adoptive Transfer of Group 3-Like Innate Lymphoid Cells Restores Mouse Colon Resistance to Colonization of a Gamma Interferon-Susceptible Chlamydia muridarum Mutant. 61
33139384 2021
11
Integrative analysis of miRNA-mRNA network in high altitude retinopathy by bioinformatics analysis. 61
33393628 2021
12
IL-7Rαlow CD8+ T Cells from Healthy Individuals Are Anergic with Defective Glycolysis. 61
33106337 2020
13
Characterization of circulating immune cells in acute Kawasaki disease suggests exposure to different antigens. 61
32812215 2020
14
Gene expression identifies patients who develop inflammatory arthritis in a clinically suspect arthralgia cohort. 61
33168080 2020
15
Thymoquinone inhibits IL-7-induced tumor progression and metastatic invasion in prostate cancer cells by attenuating matrix metalloproteinase activity and Akt/NF-κB signaling. 61
33128273 2020
16
IL-7R gene variants are associated with breast cancer susceptibility in Chinese Han women. 61
32659700 2020
17
Clinical and genetic risk factors for new-onset diabetes mellitus after transplantation (NODAT) in major transplant centres in Malaysia. 61
32894076 2020
18
The Cytokine Receptor IL-7Rα Impairs IL-2 Receptor Signaling and Constrains the In Vitro Differentiation of Foxp3+ Treg Cells. 61
32791329 2020
19
Antibody therapeutics and immunoregulation in cancer and autoimmune disease. 61
31181267 2020
20
Group 2 Innate Lymphoid Cells Must Partner with the Myeloid-Macrophage Lineage for Long-Term Postviral Lung Disease. 61
32641386 2020
21
It Takes Three Receptors to Raise a B Cell. 61
32451219 2020
22
Macrophages are the primary effector cells in IL-7-induced arthritis. 61
31197255 2020
23
Alterations in Systemic Inflammatory Response Following a Half-Marathon Race with a Combined Curcumin and Pomegranate Supplement: A Feasibility Study. 61
32657201 2020
24
Targeting the interleukin-7 receptor alpha by an anti-CD127 monoclonal antibody improves allergic airway inflammation in mice. 61
32418317 2020
25
Pazopanib and Trametinib as a Synergistic Strategy against Osteosarcoma: Preclinical Activity and Molecular Insights. 61
32531992 2020
26
Treatment of pembrolizumab and chemotherapy results in pulmonary lymphoepithelioma-like carcinoma progression through harboring secondary amplification of PI3KCA and IL-7R. 61
32331790 2020
27
Neutrophil-derived long noncoding RNA IL-7R predicts development of multiple organ dysfunction syndrome in patients with trauma. 61
32524156 2020
28
Kit activates interleukin-4 receptor and effector signal transducer and activator of transcription 6 independent of its cognate ligand in mouse mast cells. 61
31957000 2020
29
Expression of Foxp3 and interleukin-7 receptor and clinicopathological characteristics of patients with diffuse large B-cell lymphoma. 61
32218828 2020
30
Anti-inflammatory effects of α-MSH through p-CREB expression in sarcoidosis like granuloma model. 61
32350353 2020
31
ILC3 deficiency and generalized ILC abnormalities in DOCK8-deficient patients. 61
31596517 2020
32
Evidence for a pathogenic role of extrafollicular, IL-10-producing CCR6+B helper T cells in systemic lupus erythematosus. 61
32184325 2020
33
Comment on "Fibroblasts in Nodular SclerosingClassical Hodgkin Lymphoma Are Defined by a Specific Phenotype and Protect Tumor Cells from Brentuximab-Vedotin Induced Injury" Cancers 2019, 11, 1687. 61
32028697 2020
34
Contribution of IL-7/7R genetic polymorphisms in coronary heart disease in Chinese Han population. 61
31865243 2020
35
IL-7R-Dependent Phosphatidylinositol 3-Kinase Competes with the STAT5 Signal to Modulate T Cell Development and Homeostasis. 61
31924648 2020
36
Glucocorticoids paradoxically facilitate steroid resistance in T cell acute lymphoblastic leukemias and thymocytes. 61
31687977 2020
37
[Analysis of Clinical Characteristics and Therapeutic Efficacy of Patients with Adult Acute Lymphoblastic Leukemia]. 61
32027255 2020
38
T-Bet Controls Cellularity of Intestinal Group 3 Innate Lymphoid Cells. 61
33603753 2020
39
The Tetraspanin CD53 Regulates Early B Cell Development by Promoting IL-7R Signaling. 61
31748347 2020
40
PTPN22 Acts in a Cell Intrinsic Manner to Restrict the Proliferation and Differentiation of T Cells Following Antibody Lymphodepletion. 61
32047502 2020
41
Phthalate Exposure During the Prenatal and Lactational Period Increases the Susceptibility to Rheumatoid Arthritis in Mice. 61
32308655 2020
42
Glucocorticoids Regulate Circadian Rhythm of Innate and Adaptive Immunity. 61
33072078 2020
43
Leishmania amazonensis Promastigotes or Extracellular Vesicles Modulate B-1 Cell Activation and Differentiation. 61
33194814 2020
44
Tumor Infiltrating Effector Memory Antigen-Specific CD8+ T Cells Predict Response to Immune Checkpoint Therapy. 61
33262762 2020
45
Dynamical modeling predicts an inflammation-inducible CXCR7+ B cell precursor with potential implications in lymphoid blockage pathologies. 61
33062419 2020
46
Signature genes associated with immunological non-responsiveness to anti-retroviral therapy in HIV-1 subtype-c infection. 61
32579550 2020
47
Immunomodulatory activity of humanized anti-IL-7R monoclonal antibody RN168 in subjects with type 1 diabetes. 61
31852846 2019
48
Flip the coin: IL-7 and IL-7R in health and disease. 61
31745336 2019
49
IL-7R is essential for leukemia-initiating cell activity of T-cell acute lymphoblastic leukemia. 61
31530562 2019
50
IL-7-Mediated IL-7R-JAK3/STAT5 signalling pathway contributes to chemotherapeutic sensitivity in non-small-cell lung cancer. 61
31599032 2019

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.79 IL7 BCL2L11
2 11.35 IL7 BCL2L11

GO Terms for Interleukin-7 Receptor Alpha Deficiency

Sources for Interleukin-7 Receptor Alpha Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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