MCID: INT093
MIFTS: 23

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 20
Interferon Gamma Receptor 1 Deficiency 6
Ifngr1 Deficiency 20

Classifications:



Summaries for Interferon Gamma, Receptor 1, Deficiency

MalaCards based summary : Interferon Gamma, Receptor 1, Deficiency, also known as interferon gamma receptor 1 deficiency, is related to immunodeficiency 27a and osteomyelitis. An important gene associated with Interferon Gamma, Receptor 1, Deficiency is IFNGR1 (Interferon Gamma Receptor 1), and among its related pathways/superpathways are T cell receptor signaling pathway and Th17 cell differentiation. Affiliated tissues include bone marrow, liver and lung, and related phenotypes are digestive/alimentary and renal/urinary system

Related Diseases for Interferon Gamma, Receptor 1, Deficiency

Diseases related to Interferon Gamma, Receptor 1, Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency 27a 32.5 IFNGR1 IFNG
2 osteomyelitis 30.1 IFNGR1 IFNG
3 mycobacterium tuberculosis 1 29.5 IFNGR1 IFNG
4 immunodeficiency 27b 11.8
5 immunodeficiency 28 11.1
6 atypical mycobacteriosis, familial 10.5
7 meningoencephalitis 10.2
8 mycobacterium fortuitum 10.2
9 lymphoma, hodgkin, classic 10.1
10 chronic recurrent multifocal osteomyelitis 10.1
11 lymphoma, non-hodgkin, familial 10.1
12 exanthem 10.1
13 portal hypertension 10.1
14 coccidioidomycosis 10.1
15 histoplasmosis 10.1
16 liver cirrhosis 10.1
17 bronchitis 10.1
18 b-cell lymphoma 10.1
19 influenza 10.1
20 herpes simplex 10.1
21 chickenpox 10.1
22 encephalitis 10.1
23 mycobacterium abscessus 10.1
24 b-cell non-hodgkin lymphoma 10.1
25 miliary tuberculosis 9.8 IFNGR1 IFNG
26 macs syndrome 9.8 IFNGR1 IFNG
27 paratyphoid fever 9.8 IFNGR1 IFNG
28 typhoid fever 9.8 IFNGR1 IFNG
29 eczema herpeticum 9.8 IFNGR1 IFNG
30 lepromatous leprosy 9.8 IFNGR1 IFNG
31 extrapulmonary tuberculosis 9.8 IFNGR1 IFNG
32 pulmonary tuberculosis 9.8 IFNGR1 IFNG
33 salmonellosis 9.7 IFNGR1 IFNG
34 lymphadenitis 9.7 IFNGR1 IFNG
35 schistosomiasis 9.7 IFNGR1 IFNG
36 toxoplasmosis 9.7 IFNGR1 IFNG
37 tetanus 9.7 LBR IFNG
38 bronchial disease 9.7 IFNGR1 IFNG
39 hemophagocytic lymphohistiocytosis 9.7 IFNGR1 IFNG
40 visceral leishmaniasis 9.7 IFNGR1 IFNG
41 leishmaniasis 9.7 IFNGR1 IFNG
42 omenn syndrome 9.6 IFNGR1 IFNG
43 chronic mucocutaneous candidiasis 9.6 IFNGR1 IFNG
44 disease by infectious agent 9.5 IFNGR1 IFNG
45 immune deficiency disease 9.5 LBR IFNGR1 IFNG
46 hepatitis b 9.4 IFNGR1 IFNG

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.13 IFNG IFNGR1 LBR
2 renal/urinary system MP:0005367 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:

40
Bone Marrow, Liver, Lung

Publications for Interferon Gamma, Receptor 1, Deficiency

Articles related to Interferon Gamma, Receptor 1, Deficiency:

(show all 25)
# Title Authors PMID Year
1
Functional analysis of naturally occurring amino acid substitutions in human IFN-gammaR1. 6
20015550 2010
2
Infections due to various atypical mycobacteria in a Norwegian multiplex family with dominant interferon-gamma receptor deficiency. 6
18171304 2008
3
Multifocal osteomyelitis caused by nontuberculous mycobacteria in patients with a genetic defect of the interferon-gamma receptor. 6
11583830 2001
4
A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection. 6
10192386 1999
5
A case of recurrent herpes simplex 2 encephalitis, VZV reactivations, and dominant partial interferon-gamma-receptor-1 deficiency supports relevance of IFNgamma for antiviral defense in humans. 61
33051801 2020
6
Successful Matched Related Bone Marrow Transplantation in a Patient with Autosomal Dominant Interferon Gamma Receptor 1 Deficiency. 61
32696284 2020
7
Evaluation of interleukin-12 receptor β1 and interferon gamma receptor 1 deficiency in patients with disseminated BCG infection. 61
30268380 2019
8
First Documented Case of Influenza A (H3N2 Subtype) Infection in a Patient With Complete Interferon Gamma Receptor 1 Deficiency: A Call for Systemic Vaccination Strategies. 61
27171582 2016
9
Disseminated Mycobacterium avium complex infection in a child with partial dominant interferon gamma receptor 1 deficiency in India. 61
26054576 2015
10
[Interferon-gamma receptor 1 deficiency in a 19-month-old child: case report and literature review]. 61
24969940 2014
11
B-cell lymphoma in a patient with complete interferon gamma receptor 1 deficiency. 61
23800860 2013
12
Meningoencephalitis caused by varicella-zoster virus reactivation in a child with dominant partial interferon-gamma receptor-1 deficiency. 61
20842068 2011
13
Disseminated Mycobacterium scrofulaceum infection in a child with interferon-gamma receptor 1 deficiency. 61
19880337 2010
14
Refractory disseminated coccidioidomycosis and mycobacteriosis in interferon-gamma receptor 1 deficiency. 61
19681704 2009
15
[Osteitis as a complication of BCG vaccination]. 61
19364044 2009
16
Disseminated nontuberculous mycobacterial infection in a child with interferon-gamma receptor 1 deficiency. 61
16602008 2006
17
Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-gamma receptor 1 deficiency. 61
16715106 2006
18
Disseminated histoplasmosis in persons with interferon-gamma receptor 1 deficiency. 61
16028145 2005
19
Persistent Mycobacterium avium infection following nonmyeloablative allogeneic peripheral blood stem cell transplantation for interferon-gamma receptor-1 deficiency. 61
12805054 2003
20
Disseminated Mycobacterium peregrinum infection in a child with complete interferon-gamma receptor-1 deficiency. 61
12712974 2003
21
Correction of complete interferon-gamma receptor 1 deficiency by bone marrow transplantation. 61
12393576 2002
22
Genetic basis of patients with bacille Calmette-Guérin osteomyelitis in Japan: identification of dominant partial interferon-gamma receptor 1 deficiency as a predominant type. 61
11865431 2002
23
Abnormal regulation of interferon-gamma, interleukin-12, and tumor necrosis factor-alpha in human interferon-gamma receptor 1 deficiency. 61
9806040 1998
24
Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis. 61
9389728 1997
25
Fatal disseminated Mycobacterium smegmatis infection in a child with inherited interferon gamma receptor deficiency. 61
9142806 1997

Variations for Interferon Gamma, Receptor 1, Deficiency

ClinVar genetic disease variations for Interferon Gamma, Receptor 1, Deficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IFNGR1 NM_000416.2(IFNGR1):c.819_822del (p.Asn274fs) Deletion Pathogenic 17947 rs587776856 GRCh37: 6:137522057-137522060
GRCh38: 6:137200920-137200923

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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.11 IFNGR1 IFNG
2
Show member pathways
12.1 IFNGR1 IFNG
3
Show member pathways
12.04 IFNGR1 IFNG
4
Show member pathways
12.01 IFNGR1 IFNG
5
Show member pathways
11.91 IFNGR1 IFNG
6
Show member pathways
11.82 IFNGR1 IFNG
7
Show member pathways
11.77 IFNGR1 IFNG
8 11.73 IFNGR1 IFNG
9
Show member pathways
11.69 IFNGR1 IFNG
10 11.65 IFNGR1 IFNG
11
Show member pathways
11.62 IFNGR1 IFNG
12 11.41 IFNGR1 IFNG
13 11.28 IFNGR1 IFNG
14
Show member pathways
11.14 IFNGR1 IFNG
15
Show member pathways
10.97 IFNGR1 IFNG
16
Show member pathways
10.86 IFNGR1 IFNG
17 10.19 IFNGR1 IFNG

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 9.43 IFNGR1 IFNG
2 positive regulation of tumor necrosis factor production GO:0032760 9.4 IFNGR1 IFNG
3 interferon-gamma-mediated signaling pathway GO:0060333 9.37 IFNGR1 IFNG
4 microglial cell activation GO:0001774 9.32 IFNGR1 IFNG
5 positive regulation of amyloid-beta formation GO:1902004 9.26 IFNGR1 IFNG
6 astrocyte activation GO:0048143 9.16 IFNGR1 IFNG
7 regulation of interferon-gamma-mediated signaling pathway GO:0060334 8.96 IFNGR1 IFNG
8 negative regulation of amyloid-beta clearance GO:1900222 8.62 IFNGR1 IFNG

Sources for Interferon Gamma, Receptor 1, 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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