A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon.

A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon.

Item
http://www.wikidata.org/entity/Q30492620
Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunityA novel form of human STAT1 deficiency impairing early but not late responses to interferons.A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.Molecular immunity to mycobacteria: knowledge from the mutation and phenotype spectrum analysis of Mendelian susceptibility to mycobacterial diseases.Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds.Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases.Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.A genetic perspective on granulomatous diseases with an emphasis on mycobacterial infections.B-cell lymphoma in a patient with complete interferon gamma receptor 1 deficiencyMissense splice variant (g.20746A>G, p.Ile183Val) of interferon gamma receptor 1 (IFNGR1) coincidental with mycobacterial osteomyelitis - a screen of osteoarticular lesionsThe role of cytokine deficiencies and cytokine autoantibodies in clinical dermatology.HLA-E expression and its clinical relevance in human renal cell carcinoma.IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database.Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.
P2860

A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon.

Item
http://www.wikidata.org/entity/Q30492620
description
2009 nî lūn-bûn
@nan
2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
A novel form of cell type-spec ...... f the IFNGR1 initiation codon.
@ast
A novel form of cell type-spec ...... f the IFNGR1 initiation codon.
@en
type
label
A novel form of cell type-spec ...... f the IFNGR1 initiation codon.
@ast
A novel form of cell type-spec ...... f the IFNGR1 initiation codon.
@en
prefLabel
A novel form of cell type-spec ...... f the IFNGR1 initiation codon.
@ast
A novel form of cell type-spec ...... f the IFNGR1 initiation codon.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
A novel form of cell type-spec ...... f the IFNGR1 initiation codon.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932