MCID: INT093
MIFTS: 28

Interferon Gamma, Receptor 1, Deficiency malady

Categories: Rare diseases

Aliases & Classifications for Interferon Gamma, Receptor 1, Deficiency

Aliases & Descriptions for Interferon Gamma, Receptor 1, Deficiency:

Name: Interferon Gamma, Receptor 1, Deficiency 50
Ifngr1 Deficiency 50

Classifications:



Summaries for Interferon Gamma, Receptor 1, Deficiency

MalaCards based summary : Interferon Gamma, Receptor 1, Deficiency, also known as ifngr1 deficiency, is related to immunodeficiency 27a, mycobacteriosis, ar and immunodeficiency 27b, mycobacteriosis, ad. An important gene associated with Interferon Gamma, Receptor 1, Deficiency is IFNGR1 (Interferon Gamma Receptor 1), and among its related pathways/superpathways are Th17 cell differentiation and Interferon gamma signaling. The drugs Maraviroc and Dolutegravir have been mentioned in the context of this disorder. Affiliated tissues include bone and bone marrow, and related phenotypes are digestive/alimentary and integument

Related Diseases for Interferon Gamma, Receptor 1, Deficiency

Graphical network of the top 20 diseases related to Interferon Gamma, Receptor 1, Deficiency:



Diseases related to Interferon Gamma, Receptor 1, Deficiency

Symptoms & Phenotypes for Interferon Gamma, Receptor 1, Deficiency

MGI Mouse Phenotypes related to Interferon Gamma, Receptor 1, Deficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.13 IFNG IFNGR1 LBR
2 integument MP:0010771 8.8 IFNG IFNGR1 LBR

Drugs & Therapeutics for Interferon Gamma, Receptor 1, Deficiency

Drugs for Interferon Gamma, Receptor 1, Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 48)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Maraviroc Approved, Investigational Phase 4 376348-65-1 3002977
2 Dolutegravir Approved Phase 4 1051375-16-6 54726191
3 Anti-Infective Agents Phase 4,Phase 2
4 Antiviral Agents Phase 4,Phase 2
5 HIV Integrase Inhibitors Phase 4
6 Anti-HIV Agents Phase 4,Phase 2
7 Integrase Inhibitors Phase 4
8 Anti-Retroviral Agents Phase 4,Phase 2
9
Cholecalciferol Approved, Nutraceutical Phase 3 67-97-0 6221 10883523 5280795
10
Ergocalciferol Approved, Nutraceutical Phase 3 50-14-6 5280793
11 vitamin d Phase 3
12 Trace Elements Phase 3
13 Hydroxycholecalciferols Phase 3
14 Ergocalciferols Phase 3
15 Vitamins Phase 3
16 Micronutrients Phase 3
17 Bone Density Conservation Agents Phase 3
18 Vitamin D2 Nutraceutical Phase 3
19 Calciferol Nutraceutical Phase 3
20
Efavirenz Approved, Investigational Phase 2 154598-52-4 64139
21
Tenofovir Approved, Investigational Phase 2 147127-20-6 464205
22
Lamivudine Approved, Investigational Phase 2 134678-17-4 60825
23
Telmisartan Approved, Investigational Phase 2 144701-48-4 65999
24
Angiotensin II Phase 2 68521-88-0, 11128-99-7 65143 172198
25 Cytochrome P-450 CYP2C9 Inhibitors Phase 2
26 Cytochrome P-450 CYP3A Inducers Phase 2
27 Cytochrome P-450 Enzyme Inhibitors Phase 2
28 Nucleic Acid Synthesis Inhibitors Phase 2
29 Angiotensin II Type 1 Receptor Blockers Phase 2
30 Angiotensin Receptor Antagonists Phase 2
31 Angiotensinogen Phase 2
32 Antihypertensive Agents Phase 2
33 Reverse Transcriptase Inhibitors Phase 2
34
Iron Approved Phase 1 7439-89-6 23925
35
Aluminum hydroxide Approved Phase 1 21645-51-2
36
Imidazole Phase 1 288-32-4 795
37 interferons Phase 1
38 Adjuvants, Immunologic Phase 1
39 Gastrointestinal Agents Phase 1
40 Vaccines Phase 1
41 Antacids Phase 1
42 Pharmaceutical Solutions Phase 1
43 Immunoglobulins Phase 1
44 Interferon-gamma Phase 1
45 Interleukin-12 Phase 1
46 Anti-Ulcer Agents Phase 1
47 Antibodies Phase 1
48 CPG-oligonucleotide Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Integrase and Maraviroc Intensification for Neurocognitive Dysfunction (InMIND) Recruiting NCT02519777 Phase 4
2 The Effect of Vitamin D Supplementation on Cardiovascular Risk Factors Recruiting NCT02750293 Phase 3
3 Using Telmisartan With ART During Acute HIV Infection to Reduce the CNS Reservoirs of HIV and Lymph Node Fibrosis Active, not recruiting NCT02750059 Phase 2
4 Safety and Immunogenicity Study of Na-GST-1 With or Without CpG Completed NCT02143518 Phase 1
5 Safety and Immune Response of BMS-936559 in HIV-Infected People Taking Combination Antiretroviral Therapy Completed NCT02028403 Phase 1
6 Interferon Responses in Eczema Herpeticum Completed NCT01429311
7 Use of G-CSF to Obtain Blood Cell Precursors Recruiting NCT00001405
8 Evaluation of a Blood Test to Measure Immune Function in HIV Positive People Compared With HIV Negative People Terminated NCT01904201

Search NIH Clinical Center for Interferon Gamma, Receptor 1, Deficiency

Genetic Tests for Interferon Gamma, Receptor 1, Deficiency

Anatomical Context for Interferon Gamma, Receptor 1, Deficiency

MalaCards organs/tissues related to Interferon Gamma, Receptor 1, Deficiency:

39
Bone, Bone Marrow

Publications for Interferon Gamma, Receptor 1, Deficiency

Articles related to Interferon Gamma, Receptor 1, Deficiency:

id Title Authors Year
1
Disseminated Mycobacterium scrofulaceum infection in a child with interferon-gamma receptor 1 deficiency. ( 19880337 )
2010
2
Refractory disseminated coccidioidomycosis and mycobacteriosis in interferon-gamma receptor 1 deficiency. ( 19681704 )
2009
3
Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-gamma receptor 1 deficiency. ( 16715106 )
2006
4
Disseminated nontuberculous mycobacterial infection in a child with interferon-gamma receptor 1 deficiency. ( 16602008 )
2006
5
Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. ( 15589309 )
2004
6
Correction of complete interferon-gamma receptor 1 deficiency by bone marrow transplantation. ( 12393576 )
2002
7
Genetic basis of patients with bacille Calmette-GuAcrin osteomyelitis in Japan: identification of dominant partial interferon-gamma receptor 1 deficiency as a predominant type. ( 11865431 )
2002
8
Abnormal regulation of interferon-gamma, interleukin-12, and tumor necrosis factor-alpha in human interferon-gamma receptor 1 deficiency. ( 9806040 )
1998
9
Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guerin infection and a sibling with clinical tuberculosis. ( 9389728 )
1997

Variations for Interferon Gamma, Receptor 1, Deficiency

Expression for Interferon Gamma, Receptor 1, Deficiency

Search GEO for disease gene expression data for Interferon Gamma, Receptor 1, Deficiency.

Pathways for Interferon Gamma, Receptor 1, Deficiency

Pathways related to Interferon Gamma, Receptor 1, Deficiency according to GeneCards Suite gene sharing:

(show all 18)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.11 IFNG IFNGR1
2
Show member pathways
12.06 IFNG IFNGR1
3
Show member pathways
12.04 IFNG IFNGR1
4
Show member pathways
11.87 IFNG IFNGR1
5
Show member pathways
11.81 IFNG IFNGR1
6
Show member pathways
11.79 IFNG IFNGR1
7 11.78 IFNG IFNGR1
8
Show member pathways
11.75 IFNG IFNGR1
9
Show member pathways
11.69 IFNG IFNGR1
10 11.67 IFNG IFNGR1
11 11.54 IFNG IFNGR1
12
Show member pathways
11.43 IFNG IFNGR1
13 11.36 IFNG IFNGR1
14 11.26 IFNG IFNGR1
15 11.08 IFNG IFNGR1
16
Show member pathways
10.97 IFNG IFNGR1
17
Show member pathways
10.85 IFNG IFNGR1
18 10.19 IFNG IFNGR1

GO Terms for Interferon Gamma, Receptor 1, Deficiency

Biological processes related to Interferon Gamma, Receptor 1, Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 defense response to virus GO:0051607 9.26 IFNG IFNGR1
2 response to virus GO:0009615 9.16 IFNG IFNGR1
3 interferon-gamma-mediated signaling pathway GO:0060333 8.96 IFNG IFNGR1
4 regulation of interferon-gamma-mediated signaling pathway GO:0060334 8.62 IFNG IFNGR1

Sources for Interferon Gamma, Receptor 1, Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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