Author
Hans D. Ochs
Other affiliations: Osaka University, National Institutes of Health, Fred Hutchinson Cancer Research Center ...read more
Bio: Hans D. Ochs is an academic researcher from University of Washington. The author has contributed to research in topics: Antibody & Immune system. The author has an hindex of 102, co-authored 419 publications receiving 39881 citations. Previous affiliations of Hans D. Ochs include Osaka University & National Institutes of Health.
Papers published on a yearly basis
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TL;DR: Genetic evidence is presented that different mutations of the human gene FOXP3, the ortholog of the gene mutated in scurfy mice (Foxp3), causes IPEX syndrome.
Abstract: IPEX is a fatal disorder characterized by immune dysregulation, polyendocrinopathy, enteropathy and X-linked inheritance (MIM 304930). We present genetic evidence that different mutations of the human gene FOXP3, the ortholog of the gene mutated in scurfy mice (Foxp3), causes IPEX syndrome. Recent linkage analysis studies mapped the gene mutated in IPEX to an interval of 17-20-cM at Xp11. 23-Xq13.3.
3,224 citations
TL;DR: A registry of United States residents with chronic granulomatous disease (CGD) was established in 1993 in order to estimate the minimum incidence of this uncommon primary immunodeficiency disease and characterize its epidemiologic and clinical features.
1,602 citations
TL;DR: A novel gene, WASP, which is expressed in lymphocytes, spleen, and thymus is isolated and is likely to be a key regulator of lymphocyte and platelet function.
972 citations
Kuwait University1, Paris Descartes University2, Rockefeller University3, University of Oxford4, University of Tennessee5, St. Jude Children's Research Hospital6, Icahn School of Medicine at Mount Sinai7, Technion – Israel Institute of Technology8, Necker-Enfants Malades Hospital9, University of Antioquia10, Boston Children's Hospital11, Karolinska University Hospital12, National Defense Medical College13, Seattle Children's Research Institute14, University of California, San Francisco15, University of Toronto16, Royal Children's Hospital17, University of Melbourne18
TL;DR: The updated classification of primary immunodeficiencies (PIDs) compiled by the Expert Committee of the International Union of Immunological Societies acts as a current reference of the knowledge of these conditions and is an important aid for the molecular diagnosis of patients with these rare diseases.
Abstract: We report the updated classification of primary immunodeficiency diseases, compiled by the ad hoc Expert Committee of the International Union of Immunological Societies. As compared to the previous edition, more than 15 novel disease entities have been added in the updated version. For each disorders, the key clinical and laboratory features are provided. This updated classification is meant to help in the diagnostic approach to patients with these diseases.
945 citations
TL;DR: It is reported that patients with hyper-IgM syndrome (HIM) have a defective gp39-CD40 interaction, which suggests that a defect in gp39 is the basis of X-linked HIM.
840 citations
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10,063 citations
TL;DR: Current structural and cell biological data suggest models for how integrins transmit signals between their extracellular ligand binding adhesion sites and their cytoplasmic domains, which link to the cytoskeleton and to signal transduction pathways.
8,275 citations
TL;DR: Foxp3, which encodes a transcription factor that is genetically defective in an autoimmune and inflammatory syndrome in humans and mice, is specifically expressed in naturally arising CD4+ regulatory T cells and retroviral gene transfer of Foxp3 converts naïve T cells toward a regulatory T cell phenotype similar to that of naturally occurring CD4+.
Abstract: Regulatory T cells engage in the maintenance of immunological self-tolerance by actively suppressing self-reactive lymphocytes. Little is known, however, about the molecular mechanism of their development. Here we show that Foxp3, which encodes a transcription factor that is genetically defective in an autoimmune and inflammatory syndrome in humans and mice, is specifically expressed in naturally arising CD4+ regulatory T cells. Furthermore, retroviral gene transfer of Foxp3 converts naive T cells toward a regulatory T cell phenotype similar to that of naturally occurring CD4+ regulatory T cells. Thus, Foxp3 is a key regulatory gene for the development of regulatory T cells.
8,082 citations
TL;DR: It is reported that the forkhead transcription factor Foxp3 is specifically expressed in CD4+CD25+ regulatory T cells and is required for their development and function and ectopic expression ofFoxp3 confers suppressor function on peripheral CD4-CD25− T cells.
Abstract: CD4+CD25+ regulatory T cells are essential for the active suppression of autoimmunity. Here we report that the forkhead transcription factor Foxp3 is specifically expressed in CD4+CD25+ regulatory T cells and is required for their development. The lethal autoimmune syndrome observed in Foxp3-mutant scurfy mice and Foxp3-null mice results from a CD4+CD25+ regulatory T cell deficiency and not from a cell-intrinsic defect of CD4+CD25- T cells. CD4+CD25+ regulatory T cells rescue disease development and preferentially expand when transferred into neonatal Foxp3-deficient mice. Furthermore, ectopic expression of Foxp3 confers suppressor function on peripheral CD4+CD25- T cells. Thus, Foxp3 is a critical regulator of CD4+CD25+ regulatory T cell development and function.
7,321 citations
7,128 citations