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IFN-gamma receptor 1 deficiency

MedGen UID:
926459
•Concept ID:
C4288927
•
Disease or Syndrome
Synonym: Interferon gamma receptor 1 deficiency

Definition

A condition of decreased or absent presence or activity of interferon gamma receptor 1. Deficiency of this protein is associated with immunodeficiency 27A and immunodeficiency 27B. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • IFN-gamma receptor 1 deficiency

Professional guidelines

PubMed

Safe and effective off-the-shelf immunotherapy based on CAR.CD123-NK cells for the treatment of acute myeloid leukaemia.
Caruso S, De Angelis B, Del Bufalo F, Ciccone R, Donsante S, Volpe G, Manni S, Guercio M, Pezzella M, Iaffaldano L, Silvestris DA, Sinibaldi M, Di Cecca S, Pitisci A, Velardi E, Merli P, Algeri M, Lodi M, Paganelli V, Serafini M, Riminucci M, Locatelli F, Quintarelli C
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Overcoming resistance to immune checkpoint therapy in PTEN-null prostate cancer by intermittent anti-PI3Kα/β/δ treatment.
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Generation of a Broadly Useful Model for COVID-19 Pathogenesis, Vaccination, and Treatment.
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Cell 2020 Aug 6;182(3):734-743.e5. Epub 2020 Jun 10 doi: 10.1016/j.cell.2020.06.010. PMID: 32643603Free PMC Article

Recent clinical studies

Diagnosis

Intact IFN-γR1 expression and function distinguishes Langerhans cell histiocytosis from mendelian susceptibility to mycobacterial disease.
Quispel WT, Stegehuis-Kamp JA, Santos SJ, van Wengen A, Dompeling E, Egeler RM, van de Vosse E, van Halteren AG
J Clin Immunol 2014 Jan;34(1):84-93. Epub 2013 Nov 20 doi: 10.1007/s10875-013-9959-1. PMID: 24254535
Impact of molecular diagnosis on treating Mendelian susceptibility to mycobacterial diseases.
Wang LH, Yen CL, Chang TC, Liu CC, Shieh CC
J Microbiol Immunol Infect 2012 Dec;45(6):411-7. Epub 2012 Oct 1 doi: 10.1016/j.jmii.2012.08.017. PMID: 23036270
Study on the roles of cytokines involved in mycobacterial infection.
Sugawara I
Kekkaku 2002 Aug;77(8):585-8. PMID: 12235851
In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma.
Jouanguy E, Dupuis S, Pallier A, Döffinger R, Fondanèche MC, Fieschi C, Lamhamedi-Cherradi S, Altare F, Emile JF, Lutz P, Bordigoni P, Cokugras H, Akcakaya N, Landman-Parker J, Donnadieu J, Camcioglu Y, Casanova JL
J Clin Invest 2000 May;105(10):1429-36. doi: 10.1172/JCI9166. PMID: 10811850Free PMC Article

Prognosis

Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN-γ receptor-1 deficiency.
Edeer Karaca N, Boisson-Dupuis S, Aksu G, Bustamante J, Kandiloglu G, Ozsan N, Hekimgil M, Casanova JL, Kutukculer N
Immunotherapy 2012 Nov;4(11):1121-7. doi: 10.2217/imt.12.111. PMID: 23194362Free PMC Article

Clinical prediction guides

In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma.
Jouanguy E, Dupuis S, Pallier A, Döffinger R, Fondanèche MC, Fieschi C, Lamhamedi-Cherradi S, Altare F, Emile JF, Lutz P, Bordigoni P, Cokugras H, Akcakaya N, Landman-Parker J, Donnadieu J, Camcioglu Y, Casanova JL
J Clin Invest 2000 May;105(10):1429-36. doi: 10.1172/JCI9166. PMID: 10811850Free PMC Article

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