Hans D Ochs, MD

Professional History

Board Certified:

Allergy and Immunology

Residency:

University of Washington School of Medicine, Seattle, Pediatrics

Fellowship:

University of Washington School of Medicine, Seattle, Allergy and Immunology

Description of Research:

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.

Key Publications:

Lee WI, Torgerson TR, Schumacher MJ, Yel L, Zhu Q, Ochs HD. Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome. Blood 105:1881-1890, 2005.

Gavin MA, Torgerson TR, Houston E, deRoos P, Ho WY, Greenberg PD, Ochs HD, Rudensky AY. Single-cell analysis of normal and FOXP3-mutant human T cells: FOXP3 expression without regulatory T cell development. Proc Natl Acad Sci USA 103(17):6659-6664, 2006. PMCID: PMC1458937

Lopes JE, Torgerson TR, Schubert LA, Anover SD, Ocheltree EL, Ochs HD, Ziegler SF. Analysis of FOXP3 reveals multiple domains required for its function as a transcriptional repressor. J Immunol 177(5): 3133-3142, 2006.

Ochs HD, Torgerson TR. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked inheritance: model for autoaggression. Adv Exp Med Biol, 60:27-36, 2007.

Fuchizawa T, Adachi Y, Ito Y, Higashiyama H, Kanegane H, Futatani T, Kobayashi I, Kamachi Y, Sakamoto T, Tsuge I, Tanaka H, Banham AH, Ochs HD, Miyawaki T. Developmental changes of FOXP3-expressing CD4(+)CD25(+) regulatory T cells and their impairment in patients with FOXP3 gene mutations. Clin Immunol 2007.

Ochs HD, Gambineri E, Torgerson TR. IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity. Immunol Res 2007;38(1-3):112-21

Torgerson TR, Ochs HD. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells. J Allergy Clin Immunol 2007;120(4):744-50; quiz 751-2.

Renner ED, Torgerson TR, Rylaarsdam S, Anover-Sombke S, Golob K, LaFlam T, Zhu Q, Ochs HD. STAT3 mutation in the original patient with Job's syndrome. N Engl J Med 2007;357(16):1667-8.

Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol 2007;120(4):776-94.

Torgerson TR, Ochs HD. Regulatory T cells in primary immunodeficiency diseases. Curr Opin Allergy Clin Immunol 2007;7(6):515-521.

Gardulf A, Borte M, Ochs HD, Nicolay U. Prognostic factors for health-related quality of life in adults and children with primary antibody deficiencies receiving SCIG home therapy. Clin Immunol 2008;126(1):81-88.

Notarangelo LD, Miao CH, Ochs HD. Wiskott-Aldrich syndrome. Curr Opin Hematol 2008;15(1):30-36.

Moraes-Vasconcelos D, Costa-Carvalho BT, Torgerson TR, Ochs HD. Primary Immune Deficiency Disorders Presenting as Autoimmune Diseases: IPEX and APECED. J Clin Immunol 2008.

Krueger JG, Ochs HD, Patel P, Gilkerson E, Guttman-Yassky E, Dummer W. Effect of Therapeutic Integrin (CD11a) Blockade with Efalizumab on Immune Responses to Model Antigens in Humans: Results of a Randomized, Single Blind Study. J Invest Dermatol 2008.

Schultz KA, Neglia JP, Smith AR, Ochs HD, Torgerson TR, Kumar A. Familial hemophagocytic lymphohistiocytosis in two brothers with X-linked agammaglobulinemia. Pediatr Blood Cancer 2008;51(2):293-5.

Peng, B, Ye, P, Balzar, BR, Freeman, GJ, Rawlings, DJ, Hans, HD, Miao, CH (2008) "Transient Blockade of the Inducible Costimulator Pathway Generates Long-Term Tolerance to Factor VIII Following Nonviral Gene Transfer into Hemophilia A Mice" Blood, June 23. [Epub ahead of print].

Renner ED, Rylaarsdam S, Anover-Sombke S, Rack AL, Reichenbach J, Carey JC, et al. Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome. J Allergy Clin Immunol 2008;122(1):181-7.

Honors & Awards:

1972-1980: Howard Hughes Young Investigator

1987: Professor of Pediatrics, Chongqing University of Medical Sciences

1992: Honorary, The Jeffrey Modell Foundation Lifetime Achievement Award

1999: NIH Merit Award

2005: The Jeffrey Greene Visiting Professorship in Primary Immunodeficiency, Children's Hospital of Philadelphia

2006: Seattle Magazine Top Doctor

2006: LeBien Visiting Professor, University of Texas Southwestern Medical Center at Dallas

2007: Elected to the Henry Kunkel Society

2007: Jeffrey Modell Chair of Pediatric Immunity Research