MCID: INT093
MIFTS: 12

Interferon Gamma, Receptor 1, Deficiency malady

Rare diseases category
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Summaries for Interferon Gamma, Receptor 1, Deficiency

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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. Affiliated tissues include bone marrow and bone.

Aliases & Classifications for Interferon Gamma, Receptor 1, Deficiency

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

Name: Interferon Gamma, Receptor 1, Deficiency 42
 
Ifngr1 Deficiency 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Related Diseases for Interferon Gamma, Receptor 1, Deficiency

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

idRelated DiseaseScoreTop Affiliating Genes
1immunodeficiency 27a, mycobacteriosis, ar10.6
2immunodeficiency 27b, mycobacteriosis, ad10.5
3hematopoietic stem cell transplantation10.3
4coccidioidomycosis10.3
5osteomyelitis10.3
6tuberculosis10.3
7mycobacterium fortuitum10.3
8immunodeficiency 28, mycobacteriosis10.1

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



Diseases related to interferon gamma, receptor 1, deficiency

Symptoms for Interferon Gamma, Receptor 1, Deficiency

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Drugs & Therapeutics for Interferon Gamma, Receptor 1, Deficiency

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Drug clinical trials:

Search ClinicalTrials for Interferon Gamma, Receptor 1, Deficiency

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

Genetic Tests for Interferon Gamma, Receptor 1, Deficiency

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Anatomical Context for Interferon Gamma, Receptor 1, Deficiency

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

32
Bone marrow, Bone

Animal Models for Interferon Gamma, Receptor 1, Deficiency or affiliated genes

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Publications for Interferon Gamma, Receptor 1, Deficiency

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Articles related to Interferon Gamma, Receptor 1, Deficiency:

idTitleAuthorsYear
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

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Expression for genes affiliated with Interferon Gamma, Receptor 1, Deficiency

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

Pathways for genes affiliated with Interferon Gamma, Receptor 1, Deficiency

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Compounds for genes affiliated with Interferon Gamma, Receptor 1, Deficiency

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GO Terms for genes affiliated with Interferon Gamma, Receptor 1, Deficiency

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Products for genes affiliated with Interferon Gamma, Receptor 1, Deficiency

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  • Antibodies
  • Proteins
  • Lysates

Sources for Interferon Gamma, Receptor 1, Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet