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Toplam kayıt 8, listelenen: 1-8
IL-12Rβ1 Deficiency: Mutation Update and Description of the IL12RB1 Variation Database
(Wiley, 2013)
IL-12R1 deficiency is an autosomal recessive disorder characterized by predisposition to recurrent and/or severe infections caused by otherwise poorly pathogenic mycobacteria and salmonella. IL-12R1 is a receptor chain of ...
Inherited And Acquired Immunodeficiencies Underlying Tuberculosis In Childhood
(Wiley, 2015)
Tuberculosis (TB), caused by Mycobacterium tuberculosis (M.tb) and a few related mycobacteria, is a devastating disease, killing more than a million individuals per year worldwide. However, its pathogenesis remains largely ...
Human Intracellular Isg15 Prevents Interferon-Alpha/Beta Over-Amplification And Auto-Inflammation
(Nature Publishing Group, 2015)
Intracellular ISG15 is an interferon (IFN)-alpha/beta-inducible ubiquitin-like modifier which can covalently bind other proteins in a process called ISGylation; it is an effector of IFN-alpha/beta-dependent antiviral ...
Mutations In Stat3 And Il12Rb1 Impair The Development Of Human Il-17–Producing T Cells
(2008)
The cytokines controlling the development of human interleukin (IL) 17–producing T helper cells in vitro have been difficult to identify. We addressed the question of the development of human IL-17–producing T helper cells ...
Revisiting Human Il-12R Beta 1 Deficiency A Survey Of 141 Patients From 30 Countries
(Lippincott Williams & Wilkins, 2010)
Interleukin-12 receptor beta 1 (IL-12R beta 1) deficiency is the most common form of Mendelian susceptibility to mycobacterial disease (MSMD). We undertook an international survey of 141 patients from 102 kindreds in 30 ...
Mycobacterial Disease And Impaired Ifn-Gamma Immunity In Humans With Inherited Isg15 Deficiency
(Amer Assoc Advancement Science, 2012)
ISG15 is an interferon (IFN)-alpha/beta-inducible, ubiquitin-like intracellular protein. Its conjugation to various proteins (ISGylation) contributes to antiviral immunity in mice. Here, we describe human patients with ...
Accounting For Genetic Heterogeneity In Homozygosity Mapping: Application To Mendelian Susceptibility To Mycobacterial Disease
(B M J Publishing Group, 2011)
Introduction Genome-wide homozygosity mapping is a powerful method for locating rare recessive Mendelian mutations. However, statistical power decreases dramatically in the presence of genetic heterogeneity. Methods The ...
Clinical Features Of Candidiasis In Patients With Inherited Interleukin 12 Receptor Beta 1 Deficiency
(Oxford Univ Press, 2014)
Background. Interleukin 12R beta 1 (IL-12R beta 1)-deficient patients are prone to clinical disease caused by mycobacteria, Salmonella, and other intramacrophagic pathogens, probably because of impaired interleukin ...