MCID: INT093
MIFTS: 11

Interferon Gamma, Receptor 1, Deficiency malady

Rare diseases category

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 41
 
Ifngr1 Deficiency 41


Classifications:

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


Related Diseases for Interferon Gamma, Receptor 1, Deficiency

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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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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:

31
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
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Interferon Gamma, Receptor 1, Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet