MCID: INT093
MIFTS: 24

Interferon Gamma, Receptor 1, Deficiency

Categories: Rare diseases

Aliases & Classifications for Interferon Gamma, Receptor 1, Deficiency

MalaCards integrated aliases for Interferon Gamma, Receptor 1, Deficiency:

Name: Interferon Gamma, Receptor 1, Deficiency 54
Ifngr1 Deficiency 54

Classifications:



Summaries for Interferon Gamma, Receptor 1, Deficiency

MalaCards based summary : Interferon Gamma, Receptor 1, Deficiency, also known as ifngr1 deficiency, is related to osteomyelitis and immunodeficiency 27a. 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. Affiliated tissues include bone, bone marrow and t cells, 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.43 IFNG IFNGR1 LBR
2 integument MP:0010771 9.33 IFNG IFNGR1 LBR
3 renal/urinary system MP:0005367 9.13 IFNG IFNGR1 LBR
4 reproductive system MP:0005389 8.8 IFNG IFNGR1 LBR

Drugs & Therapeutics for Interferon Gamma, Receptor 1, Deficiency

Search Clinical Trials , 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:

42
Bone, Bone Marrow, T Cells, B Cells

Publications for Interferon Gamma, Receptor 1, Deficiency

Articles related to Interferon Gamma, Receptor 1, Deficiency:

(show all 13)
# Title Authors Year
1
CD4 T cell-restricted IL-2 signaling defect in a patient with a novel IFNGR1 deficiency. ( 28927822 )
2018
2
B-cell lymphoma in a patient with complete interferon gamma receptor 1 deficiency. ( 23800860 )
2013
3
Meningoencephalitis caused by varicella-zoster virus reactivation in a child with dominant partial interferon-gamma receptor-1 deficiency. ( 20842068 )
2011
4
Disseminated Mycobacterium scrofulaceum infection in a child with interferon-gamma receptor 1 deficiency. ( 19880337 )
2010
5
Refractory disseminated coccidioidomycosis and mycobacteriosis in interferon-gamma receptor 1 deficiency. ( 19681704 )
2009
6
Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-gamma receptor 1 deficiency. ( 16715106 )
2006
7
Disseminated nontuberculous mycobacterial infection in a child with interferon-gamma receptor 1 deficiency. ( 16602008 )
2006
8
Disseminated histoplasmosis in persons with interferon-gamma receptor 1 deficiency. ( 16028145 )
2005
9
Persistent Mycobacterium avium infection following nonmyeloablative allogeneic peripheral blood stem cell transplantation for interferon-gamma receptor-1 deficiency. ( 12805054 )
2003
10
Genetic basis of patients with bacille Calmette-Guérin osteomyelitis in Japan: identification of dominant partial interferon-gamma receptor 1 deficiency as a predominant type. ( 11865431 )
2002
11
Correction of complete interferon-gamma receptor 1 deficiency by bone marrow transplantation. ( 12393576 )
2002
12
Abnormal regulation of interferon-gamma, interleukin-12, and tumor necrosis factor-alpha in human interferon-gamma receptor 1 deficiency. ( 9806040 )
1998
13
Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin 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 19)
# 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
12.03 IFNG IFNGR1
4
Show member pathways
11.91 IFNG IFNGR1
5
Show member pathways
11.83 IFNG IFNGR1
6
Show member pathways
11.83 IFNG IFNGR1
7
Show member pathways
11.78 IFNG IFNGR1
8 11.75 IFNG IFNGR1
9
Show member pathways
11.72 IFNG IFNGR1
10
Show member pathways
11.67 IFNG IFNGR1
11 11.65 IFNG IFNGR1
12
Show member pathways
11.6 IFNG IFNGR1
13
Show member pathways
11.52 IFNG IFNGR1
14 11.48 IFNG IFNGR1
15 11.27 IFNG IFNGR1
16 11.26 IFNG IFNGR1
17 11.09 IFNG IFNGR1
18
Show member pathways
10.65 IFNG IFNGR1
19 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:

# Name GO ID Score Top Affiliating Genes
1 response to virus GO:0009615 9.16 IFNG IFNGR1
2 interferon-gamma-mediated signaling pathway GO:0060333 8.96 IFNG IFNGR1
3 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
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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