Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.
about
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
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P2860
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.
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
P2093
P2860
P50
P356
P1476
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.
@en
P2093
Alexandra Kreins
Anna Macura-Biegun
Anna Szaflarska
Avinash Abhyankar
Claudia Djambas Khayat
Danuta Kowalczyk
Dieter Furthner
Dusan Bogunovic
Marcela Moncada-Vélez
Saleh Al-Muhsen
P2860
P304
P356
10.1093/HMG/DDS484
P50
P577
2012-11-16T00:00:00Z