about
A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variantRevisiting Crohn's disease as a primary immunodeficiency of macrophagesDOCK8 deficiency impairs CD8 T cell survival and function in humans and miceMycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiencyImmunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiencyInherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunityWhole-exome-sequencing-based discovery of human FADD deficiencyIRAK-4- and MyD88-dependent pathways are essential for the removal of developing autoreactive B cells in humansPyogenic bacterial infections in humans with MyD88 deficiencyInborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypesInborn errors of the development of human natural killer cellsPrimary immunodeficiencies of pattern recognition receptorsMendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunitySearching for the human genetic factors standing in the way of universally effective vaccinesNADPH oxidase-driven phagocyte recruitment controls Candida albicans filamentous growth and prevents mortalityEvolutionary dynamics of human Toll-like receptors and their different contributions to host defenseIL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and TurkeyHuman RHOH deficiency causes T cell defects and susceptibility to EV-HPV infectionsA novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon.Novel primary immunodeficiencies relevant to internal medicine: novel phenotypes.Short-term starvation of immune deficient Drosophila improves survival to gram-negative bacterial infections.HGCS: an online tool for prioritizing disease-causing gene variants by biological distanceProteomics in immunity and herpes simplex encephalitis.A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedsideTag SNP polymorphism of CCL2 and its role in clinical tuberculosis in Han Chinese pediatric populationPrimary immunodeficiencies underlying fungal infectionsClassic Kaposi sarcoma in 3 unrelated Turkish children born to consanguineous kindreds.Lipid antigens in immunity.Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity.Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function.Cytokine production assays reveal discriminatory immune defects in adults with recurrent infections and noninfectious inflammation.Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis.Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcomaRibosomal protein SA haploinsufficiency in humans with isolated congenital aspleniaGuidelines for genetic studies in single patients: lessons from primary immunodeficiencies.Inherited MST1 deficiency underlies susceptibility to EV-HPV infectionsClinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 deficiency.A novel form of human STAT1 deficiency impairing early but not late responses to interferons.B lymphocytes: how they develop and function.Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.
P2860
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P2860
description
2007 nî lūn-bûn
@nan
2007 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Primary immunodeficiencies: a field in its infancy.
@ast
Primary immunodeficiencies: a field in its infancy.
@en
Primary immunodeficiencies: a field in its infancy.
@nl
type
label
Primary immunodeficiencies: a field in its infancy.
@ast
Primary immunodeficiencies: a field in its infancy.
@en
Primary immunodeficiencies: a field in its infancy.
@nl
prefLabel
Primary immunodeficiencies: a field in its infancy.
@ast
Primary immunodeficiencies: a field in its infancy.
@en
Primary immunodeficiencies: a field in its infancy.
@nl
P2860
P356
P1433
P1476
Primary immunodeficiencies: a field in its infancy.
@en
P2093
Laurent Abel
P2860
P304
P356
10.1126/SCIENCE.1142963
P407
P577
2007-08-01T00:00:00Z