MCID: INT093
MIFTS: 13

Interferon Gamma, Receptor 1, Deficiency malady

Rare diseases category

Summaries for Interferon Gamma, Receptor 1, Deficiency

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MalaCards: Interferon Gamma, Receptor 1, Deficiency, also known as ifngr1 deficiency, is related to autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency and autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency. Affiliated tissues include bone marrow and bone.

Aliases & Classifications for Interferon Gamma, Receptor 1, Deficiency

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44NIH Rare Diseases
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Classifications:

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Global: Rare diseases


Aliases & Descriptions:

interferon gamma, receptor 1, deficiency 44
ifngr1 deficiency 44


Related Diseases for Interferon Gamma, Receptor 1, Deficiency

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18GeneCards, 19GeneDecks
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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:

34
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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53PubMed
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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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16Gene Expression Omnibus DataSets
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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
  • Antibodies

Sources for Interferon Gamma, Receptor 1, Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet