Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.

Item
http://www.wikidata.org/entity/Q36560000
Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunityIL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation databaseCellular and Molecular Defects Underlying Invasive Fungal Infections-Revelations from Endemic Mycoses.Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency.A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.A post-GWAS analysis of predicted regulatory variants and tuberculosis susceptibility.A genetic perspective on granulomatous diseases with an emphasis on mycobacterial infections.Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitisPartial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasisICON: the early diagnosis of congenital immunodeficiencies.Cytokine immunomodulation for the treatment of infectious diseases: lessons from primary immunodeficiencies.Exome Sequencing Identifies Two Variants of the Alkylglycerol Monooxygenase Gene as a Cause of Relapses in Visceral Leishmaniasis in Children, in Sudan.Severe viral respiratory infections in children with IFIH1 loss-of-function mutations.Paracoccidioidomycosis Associated With a Heterozygous STAT4 Mutation and Impaired IFN-γ Immunity.Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.
P2860

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.

Item
http://www.wikidata.org/entity/Q36560000
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.
@ast
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.
@en
type
label
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.
@ast
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.
@en
prefLabel
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.
@ast
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921
P932
P356
P1433
P1476
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921
P932