Profile

Troy R. Torgerson, MD, PhD

On staff since August 2004

Research Center: Center for Immunity and Immunotherapies

"I am passionate about closing loops. This starts in clinic, with patients who put their trust in our ability to help them identify and deal with severe, chronic and often inherited diseases of the immune system. It then moves to the lab, where we make every effort to understand each patients disease at the molecular and genetic level. It proceeds to our research labs, where we work to circumvent or correct the molecular defects that we find. The loop closes as we take what we have learned back to the clinic, to more effectively treat or cure disease. My challenge is to find ways to close these loops more quickly and efficiently in order to provide hope for patients and families."

Troy R. Torgerson, MD, PhD, is attending physician at Seattle Childrens Hospital and assistant professor in the Department of Pediatrics at the University of Washington School of Medicine. He is co-director of the Immunology Diagnostic Laboratory within the Center for Immunity and Immunotherapies at Seattle Childrens Research Institute.

He obtained his MD and PhD from Vanderbilt University School of Medicine and completed residency training in pediatrics and a fellowship in pediatric rheumatology and immunology at the University of Washington. He participates in clinical care of patients with immune deficiency and autoimmune disorders at Seattle Childrens and coordinates care for patients treated by hematopoietic stem cell transplant (HSCT). He coordinates several joint clinical research protocols designed to optimize HSCT treatment in PIDD. Dr. Torgersons clinical interests include the diagnosis and management of children and adults with primary immunodeficiency diseases (PIDDs) and children with autoimmune disorders. His bench research focuses on the identification of basic cellular mechanisms that promote both autoimmunity and immunodeficiency. His research laboratory studies the molecular basis of disease in two immunodeficiency disorders; Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome and Hyper-IgE syndrome. The genetic defects that cause these clinical syndromes alter the development of immune cells that either control immune responses (IPEX syndrome) or promote inflammation (Hyper-IgE syndrome).

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Overview
Publications
Presentations
Research Funding

Overview

Board Certification(s): Pediatrics
Pediatric Rheumatology
Medical/Professional School: Vanderbilt University School of Medicine, Nashville
Residency: University of Washington School of Medicine, Seattle, Pediatrics
Fellowship: University of Washington School of Medicine, Seattle, Pediatric Rheumatology
Research Description: I am co-director of the Immunodeficiency Molecular Diagnostics Laboratory.

My research interests relate to the identification of basic cellular mechanisms that jointly promote autoimmunity and immunodeficiency. My research is focused on studies of the molecular basis of immune dysregulation present in patients with immune dysregulation, polyendocrinopathy,enteropathy, X-linked (IPEX). The genetic defect present in this syndrome alters the development and function of regulatory T cells, which are required for controlling immune responses. I am a member of the Society for Pediatric Research and coordinate several joint clinical research protocols designed to optimize HSCT treatment in PIDD.

I also participate in the clinical care of patients with immune deficiency and autoimmune disorders at Seattle Children's Hospital and coordinate care for immunodeficient patients treated by hematopoietic stem cell transplant (HSCT). My clinical interests include the diagnosis and management of children and adults with primary immunodeficiency diseases (PIDDs) and autoimmune disorders in children.
Research Focus Area: Immunology

Publications

A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency.
Human mutation , 2010 Sep: 1080-8

Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis.
The Journal of allergy and clinical immunology , 2010 Sep: 611-7.e1

The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies.
Journal of autoimmunity , 2010 Jul 21:

Stable hematopoietic cell engraftment after low-intensity nonmyeloablative conditioning in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
The Journal of allergy and clinical immunology , 2010 Jul 17:

Astrovirus encephalitis in boy with X-linked agammaglobulinemia.
Emerging infectious diseases , 2010 Jun: 918-25

Subcutaneous immunoglobulin replacement therapy in the treatment of patients with primary immunodeficiency disease.
Therapeutics and clinical risk management , 2010 Feb 2: 1-10

Atypical presentation of IL-12 receptor beta1 deficiency with pneumococcal sepsis and disseminated nontuberculous mycobacterial infection in a 19-month-old girl born to nonconsanguineous US residents.
The Journal of allergy and clinical immunology , 2010 Jan: 264-5

Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management.
The Journal of allergy and clinical immunology , 2009 Dec: 1152-60.e12

FOXP3 forkhead domain mutation and regulatory T cells in the IPEX syndrome.
The New England journal of medicine , 2009 Oct 22: 1710-3

Comèl-Netherton syndrome defined as primary immunodeficiency.
The Journal of allergy and clinical immunology , 2009 Sep: 536-43

FOXP3 inhibits activation-induced NFAT2 expression in T cells thereby limiting effector cytokine expression.
Journal of immunology (Baltimore, Md. : 1950) , 2009 Jul 15: 907-15

TH17 cells and regulatory T cells in primary immunodeficiency diseases.
The Journal of allergy and clinical immunology , 2009 May: 977-83; quiz 984-5

Immunologic reconstitution during PEG-ADA therapy in an unusual mosaic ADA deficient patient.
Clinical immunology (Orlando, Fla.) , 2009 Feb: 162-74

Familial hemophagocytic lymphohistiocytosis in two brothers with X-linked agammaglobulinemia.
Pediatric blood & cancer , 2008 Aug: 293-5

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.
The Journal of allergy and clinical immunology , 2008 Jul: 181-7

Intraarticular corticosteroid injections of the temporomandibular joint in juvenile idiopathic arthritis.
The Journal of rheumatology , 2008 Jun: 1157-64

Immune dysregulation in primary immunodeficiency disorders.
Immunology and allergy clinics of North America , 2008 May: 315-27, viii-ix

Cutaneous noncaseating granulomas associated with Nijmegen breakage syndrome.
Archives of dermatology , 2008 Mar: 418-9

Regulatory T cells in primary immunodeficiency diseases.
Current opinion in allergy and clinical immunology , 2007 Dec: 515-21

STAT3 mutation in the original patient with Job's syndrome.
The New England journal of medicine , 2007 Oct 18: 1667-8

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells.
The Journal of allergy and clinical immunology , 2007 Oct: 744-50; quiz 751-2

Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene.
Gastroenterology , 2007 May: 1705-17

A potential screening tool for IPEX syndrome.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society , 2007 Mar-Apr: 98-105

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked inheritance: model for autoaggression.
Advances in experimental medicine and biology , 2007: 27-36

IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity.
Immunologic research , 2007: 112-21

Analysis of FOXP3 reveals multiple domains required for its function as a transcriptional repressor.
Journal of immunology (Baltimore, Md. : 1950) , 2006 Sep 1: 3133-42

Regulatory T cells in human autoimmune diseases.
Springer seminars in immunopathology , 2006 Aug: 63-76

Single-cell analysis of normal and FOXP3-mutant human T cells: FOXP3 expression without regulatory T cell development.
Proceedings of the National Academy of Sciences of the United States of America , 2006 Apr 25: 6659-64

Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome.
Blood , 2005 Mar 1: 1881-90

FOXP3 acts as a rheostat of the immune response.
Immunological reviews , 2005 Feb: 156-64

Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis.
Current opinion in rheumatology , 2003 Jul: 430-5

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: a model of immune dysregulation.
Current opinion in allergy and clinical immunology , 2002 Dec: 481-7

Presentations

Presentations Title	Event	Location	Date
IPEX	44. American Autoimmune Related Diseases Association Scientific Colloquium	Baltimore, MD	Jan. 1, 2009
Insights into FOXP3 and STAT3 transcription factor biology from human disease	43. Stanford University Immunology Program Seminar Series	Palo Alto, CA	Jan. 1, 2009
New mutations affecting innate immunity	42. American College of Rheumatology Annual Meeting	Philadelphia, PA	Jan. 1, 2009
Immunology dysregulation, polyendocrinopathy, enteropathy, x-linked and forkhead box P3	41. American College of Rheumatology Annual Meeting	Philadelphia, PA	Jan. 1, 2009
New tricks from old transcription factors: FOXP3 and STAT3 in human Immunodeficiency disorders	40. Duke University Medical Center Immunology Seminar Series	Durham, NC	Jan. 1, 2009
The association between autoimmunity and immunodeficiency disorders-tragic stories of indifference and disloyalty	39. Duke University Medical Center Pediatric Grand Rounds	Durham, NC	Jan. 1, 2009
Immune dysregulation syndromes: single gene defects associated with severe autoimmunity	38. 5th Annual Sudhir Gupta Endowed Chair in Molecular Immunology Symposium	Newport Beach, CA	Jan. 1, 2009
Immunology 101 & Treatment Options for PIDD	37. Immune Deficiency Foundation	Lake Buena Vista, FL	Jan. 1, 2009
Basic Immunology	36. Immune Deficiency Foundation	Lake Buena Vista, FL	Jan. 1, 2009
The naturally occurring splice variant of FOXP3 lacking Exon 2 is not sufficient to maintain immune homeostasis and prevent IPEX in vivo in humans.	35. Federation of Clinical Immunology Societies	San Francisco, CA	Jan. 1, 2009
Functional consequences of FOXP3 and STAT3 mutations identified in IPEX and Hyper IgE syndrome.	Northwestern University Feinberg School of Medicine	Chicago, IL	Jan. 1, 2009
Recent scientific advances to promote early diagnosis of PID: current issues and potential solutions.	Latin American Symposium	Sao Paulo, Brazil	Jan. 1, 2009
Our daily war on terror: how the immune System protects our bodies from invaders and a look at interesting ways in which this breaks down.	Idaho State University	Pocatello, ID	Jan. 1, 2009
Failure of immune tolerance.	31. American Academy of Allergy, Asthma & Immunology, Annual Meeting	Washington, D.C.	Jan. 1, 2009
When less is more: the conundrum of autoimmunity in immunodeficiency syndromes.	30. Immune Deficiency Foundation, Le Bien Visiting Professor Program	Hershey, PA	Jan. 1, 2009

Research Funding

Grant Title	Grantor	Amount	Award Date
Developmental and Genetic Defects of Immunity	NIH/NICHD	$$228,926	March 1, 2004 - Aug. 31, 2010

Primary Office

Seattle Children's Research Institute

C9S - 7 - Immunology
1900 - 9th Ave

Seattle, WA 98101

206-987-7450

Additional Offices

Seattle Children's

R-5420 - Rheumatology
4800 Sand Point Way NE

Seattle, WA 98105

206-987-2057

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