RESIDENCY
Pediatrics, University of Washington School of Medicine, Seattle
FELLOWSHIP
Allergy and Immunology, University of Washington School of Medicine, Seattle
RESEARCH DESCRIPTION
Dr. Ochs' research focuses on the molecular basis of Primary Immune Deficiency Diseases with special interest in the genes that have been linked to the Wiskott Aldrich Syndrome, Hyper IgM syndromes, X-linked Agammaglobulinemia, IPEX syndrome, autosomal recessive Hyper IgE syndrome. To improve the long-term outcome of these disorders, he has actively participated in clinical trials to develop immunoglobulin replacement, hematopoietic stem cell transplantation, and gene therapy.
Dr. Ochs' clinical interests focus on the use of intravenous and subcutaneous immunoglobulin and the in vivo analysis of antibody production using Bacteriophage FX174. He and his collaborators contributed to the identification of several genes associated with PIDD located on the X chromosome, including CD40L, Wiskott-Aldrich Syndrome protein, BTK, and FOXP3.
Recently, he focused on the gene Uracil-DNA Glycosulase, causing a rare form of autosomal recessive hyper IgM syndrome and on STAT3, the gene causing autosomal dominant Hyper IgE Syndrome if mutated. In 1995, he moved the immunodeficiency clinic from the University to Children's Hospital, providing diagnostic evaluations and clinical care for both pediatric and adult patients with PIDD. He initiated and maintained a successful cooperation with the bone marrow transplant unit since the early 70s and participated in the design of protocols related to stem cell transplantation for patients with SCID, Wiskott-Aldrich Syndrome, GGD, and Hyper IgM Syndrome.
He is a PI for the NIH contract supporting the United States Immune Deficiency Network (USIDNet) and member of the U.S. Summer School Faculty devoted to teaching fellows interested in primary immunodeficiency diseases. As co-editor of the textbooks Primary Immunodeficiency Diseases, A Molecular and Genetic Approach, 2nd Edition and for Immunologic Disorders in Infants and Children, 3rd Edition.
The Ochs/Torgerson Lab focuses on:
1) The molecular basis of primary immunodeficiency disorders
2) Autoimmunity and Immune dysregulation
3) Regulatory T cells and mutations of FOXP3
4) Eventual consequences of heterozygous hypermorphic STAT3 mutations and their relationship to autosomal dominant Hyper IgE syndrome.
RESEARCH FOCUS AREA
Immunology
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