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Troy R. Torgerson, MD, PhD

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Troy R. Torgerson, MD, PhD

Immunology

On staff since August 2004

Academic Title: Associate Professor

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."

Making a Difference

  • Nailing Difficult Diagnoses

    Our Immunology Diagnostic Laboratory develops tests – and makes difficult diagnoses – that help children with immune disorders lead longer, healthier lives. ... cont.

Overview

Board Certification(s)
Pediatrics
Pediatric Rheumatology
Medical/Professional School
Vanderbilt University School of Medicine, Nashville
Residency
Pediatrics, University of Washington School of Medicine, Seattle
Fellowship
Pediatric Rheumatology, University of Washington School of Medicine, Seattle
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

First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes.
Journal of clinical immunology , 2014 Jan 9
Suppressor of cytokine signaling 3 expression is diminished in sinonasal tissues from patients with chronic rhinosinusitis with nasal polyps.
The Journal of allergy and clinical immunology , 2014 Jan: 133(1)275-277.e1
Primary Immune Deficiency Treatment Consortium (PIDTC) report.
The Journal of allergy and clinical immunology , 2013 Oct 15
Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia.
Journal of clinical immunology , 2013 Oct: 33(7)1150-5
A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy.
Journal of clinical immunology , 2013 Aug: 33(6)1088-99
Common variable immunodeficiency as the initial presentation of dyskeratosis congenita.
The Journal of allergy and clinical immunology , 2013 Jul: 132(1)223-6
Diagnosis and evaluation of primary panhypogammaglobulinemia: a molecular and genetic challenge.
The Journal of allergy and clinical immunology , 2013 Jun: 131(6)1717-8
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.
The Journal of allergy and clinical immunology , 2013 Jun: 131(6)1611-23
Reactivation of latent viruses in individuals receiving rituximab for new onset type 1 diabetes.
Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology , 2013 Jun: 57(2)115-9
Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency.
The Journal of allergy and clinical immunology , 2013 Mar: 131(3)840-8
Accumulation of peripheral autoreactive B cells in the absence of functional human regulatory T cells.
Blood , 2013 Feb 28: 121(9)1595-603
Clinical ambiguities--ongoing questions.
Journal of clinical immunology , 2013 Jan: 33 Suppl 2S99-103
Overview of routes of IgG administration.
Journal of clinical immunology , 2013 Jan: 33 Suppl 2S87-9
Comparing routes of IgG administration for primary immunodeficiency disorders.
Journal of clinical immunology , 2013 Jan: 33 Suppl 2S85-6
Vaccination with a UV-irradiated genetically attenuated mutant of Staphylococcus aureus provides protection against subsequent systemic infection.
The Journal of infectious diseases , 2012 Dec 1: 206(11)1734-44
Tryptic peptide screening for primary immunodeficiency disease by LC/MS-MS.
Proteomics. Clinical applications , 2012 Aug: 6(7-8)394-402
The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.
Journal of medical genetics , 2012 May: 49(5)291-302
Expanding the clinical and genetic spectrum of human CD40L deficiency: the occurrence of paracoccidioidomycosis and other unusual infections in Brazilian patients.
Journal of clinical immunology , 2012 Apr: 32(2)212-20
Immunodeficiency diseases with rheumatic manifestations.
Pediatric clinics of North America , 2012 Apr: 59(2)493-507
Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation.
The Journal of allergy and clinical immunology , Feb. 2012: 129(2)559-562.e2
Dendritic cells from X-linked hyper-IgM patients present impaired responses to Candida albicans and Paracoccidioides brasiliensis.
The Journal of allergy and clinical immunology , 2012 Mar: 129(3)778-86
Outcomes and duration of Pneumocystis jiroveci pneumonia therapy in infants with severe combined immunodeficiency.
The Pediatric infectious disease journal , Jan. 2012: 31(1)95-7
Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation.
The Journal of allergy and clinical immunology , 2012 Feb: 129(2)559-62, 562.e1-2
Expanding the Clinical and Genetic Spectrum of Human CD40L Deficiency: The Occurrence of Paracoccidioidomycosis and Other Unusual Infections in Brazilian Patients.
Journal of clinical immunology , Dec. 2011
Dendritic cells from X-linked hyper-IgM patients present impaired responses to Candida albicans and Paracoccidioides brasiliensis.
The Journal of allergy and clinical immunology , Dec. 2011
Effect of rituximab on human invivo antibody immune responses.
The Journal of allergy and clinical immunology , Dec. 2011: 128(6)1295-1302.e5
Autoimmune hepatitis type 2 in a child with IPEX syndrome.
Journal of pediatric gastroenterology and nutrition , Dec. 2011: 53(6)690-3
Genetic disorders with immune dysregulation.
Cellular and molecular life sciences : CMLS , 2012 Jan: 69(1)49-58
NCI, NHLBI/PBMTC first international conference on late effects after pediatric hematopoietic cell transplantation: persistent immune deficiency in pediatric transplant survivors.
Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation , 2012 Jan: 18(1)6-15
Genetic disorders with immune dysregulation.
Cellular and molecular life sciences : CMLS , 2012 Jan: 69(1)49-58
Effect of rituximab on human in vivo antibody immune responses.
The Journal of allergy and clinical immunology , 2011 Dec: 128(6)1295-1302.e5
Autoimmune hepatitis type 2 in a child with IPEX syndrome.
Journal of pediatric gastroenterology and nutrition , 2011 Dec: 53(6)690-3
Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study.
Blood , Aug. 2011: 118(6)1675-84
Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study.
Blood , 2011 Aug 11: 118(6)1675-84
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 , Nov. 2010: 126(5)1000-5
The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies.
Journal of autoimmunity , Nov. 2010: 35(3)265-8
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 Nov: 126(5)1000-5
The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies.
Journal of autoimmunity , 2010 Nov: 35(3)265-8
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 , Sept. 2010: 611-7.e1
A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency.
Human mutation , Sept. 2010: 31(9)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 , Sept. 2010: 126(3)611-7.e1
Laboratory markers of cardiovascular risk in pediatric SLE: the APPLE baseline cohort.
Lupus , 2010 Oct: 19(11)1315-25
Astrovirus encephalitis in boy with X-linked agammaglobulinemia.
Emerging infectious diseases , June 2010: 16(6)918-25
Autoantibodies in scurfy mice and IPEX patients recognize keratin 14.
The Journal of investigative dermatology , May 2010: 130(5)1391-9
Subcutaneous immunoglobulin replacement therapy in the treatment of patients with primary immunodeficiency disease.
Therapeutics and clinical risk management , Feb. 2010: 61-10
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 , Jan. 2010: 125(1)264-5
Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management.
The Journal of allergy and clinical immunology , Dec. 2009: 124(6)1152-60.e12
CD4+FOXP3+ regulatory T cells confer long-term regulation of factor VIII-specific immune responses in plasmid-mediated gene therapy-treated hemophilia mice.
Blood , 2009 Nov 5: 114(19)4034-44
FOXP3 forkhead domain mutation and regulatory T cells in the IPEX syndrome.
The New England journal of medicine , Oct. 2009: 1710-3
Coml-Netherton syndrome defined as primary immunodeficiency.
The Journal of allergy and clinical immunology , Sept. 2009: 124(3)536-43
FOXP3 inhibits activation-induced NFAT2 expression in T cells thereby limiting effector cytokine expression.
Journal of immunology (Baltimore, Md. : 1950) , July 2009: 183(2)907-15
TH17 cells and regulatory T cells in primary immunodeficiency diseases.
The Journal of allergy and clinical immunology , 2009 May: 123(5)977-83; quiz 984-5
Immunologic reconstitution during PEG-ADA therapy in an unusual mosaic ADA deficient patient.
Clinical immunology (Orlando, Fla.) , Feb. 2009: 130(2)162-74
Familial hemophagocytic lymphohistiocytosis in two brothers with X-linked agammaglobulinemia.
Pediatric blood & cancer , Aug. 2008: 51(2)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 , July 2008: 122(1)181-7
Intraarticular corticosteroid injections of the temporomandibular joint in juvenile idiopathic arthritis.
The Journal of rheumatology , June 2008: 35(6)1157-64
Immune dysregulation in primary immunodeficiency disorders.
Immunology and allergy clinics of North America , 2008 May: 315-27, viii-ix
Immune dysregulation in primary immunodeficiency disorders.
Immunology and allergy clinics of North America , 2008 May: 28(2)315-27, viii-ix
Cutaneous noncaseating granulomas associated with Nijmegen breakage syndrome.
Archives of dermatology , March 2008: 418-9
Regulatory T cells in primary immunodeficiency diseases.
Current opinion in allergy and clinical immunology , 2007 Dec: 515-21
Regulatory T cells in primary immunodeficiency diseases.
Current opinion in allergy and clinical immunology , 2007 Dec: 7(6)515-21
STAT3 mutation in the original patient with Job's syndrome.
The New England journal of medicine , 2007 Oct 18: 1667-8
STAT3 mutation in the original patient with Job's syndrome.
The New England journal of medicine , 2007 Oct 18: 357(16)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
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: 120(4)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 , May 2007: 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 , March 2007: 10(2)98-105
Wiskott-Aldrich syndrome protein is required for regulatory T cell homeostasis.
The Journal of clinical investigation , Feb. 2007: 117(2)407-18
IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity.
Immunologic research , 2007: 112-21
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked inheritance: model for autoaggression.
Advances in experimental medicine and biology , 2007: 27-36
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked inheritance: model for autoaggression.
Advances in experimental medicine and biology , 2007: 60127-36
IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity.
Immunologic research , 2007: 38(1-3)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: 177(5)3133-42
Regulatory T cells in human autoimmune diseases.
Springer seminars in immunopathology , 2006 Aug: 28(1)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: 103(17)6659-64
Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome.
Blood , March 2005: 105(5)1881-90
FOXP3 acts as a rheostat of the immune response.
Immunological reviews , 2005 Feb: 156-64
FOXP3 acts as a rheostat of the immune response.
Immunological reviews , 2005 Feb: 203156-64
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: 15(4)430-5
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: a model of immune dysregulation.
Current opinion in allergy and clinical immunology , 2002 Dec: 2(6)481-7
IPEX Syndrome
, 1997 - 2004
Common Variable Immune Deficiency Overview
, 1993
Soft artificial ventricles for infants and adults, with or without a clamshell.
ASAIO transactions / American Society for Artificial Internal Organs , 1990 Jul-Sep: 36(3)M238-42

Presentations

Presentations TitleEventLocationDate
When less is more: the conundrum of autoimmunity in immunodeficiency syndromes.30. Immune Deficiency Foundation, Le Bien Visiting Professor ProgramHershey, PAJan. 1, 2009
Failure of immune tolerance.31. American Academy of Allergy, Asthma & Immunology, Annual MeetingWashington, D.C.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 UniversityPocatello, IDJan. 1, 2009
Recent scientific advances to promote early diagnosis of PID: current issues and potential solutions.Latin American SymposiumSao Paulo, BrazilJan. 1, 2009
Functional consequences of FOXP3 and STAT3 mutations identified in IPEX and Hyper IgE syndrome.Northwestern University Feinberg School of MedicineChicago, ILJan. 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 SocietiesSan Francisco, CAJan. 1, 2009
Basic Immunology36. Immune Deficiency FoundationLake Buena Vista, FLJan. 1, 2009
Immunology 101 & Treatment Options for PIDD37. Immune Deficiency FoundationLake Buena Vista, FLJan. 1, 2009
Immune dysregulation syndromes: single gene defects associated with severe autoimmunity38. 5th Annual Sudhir Gupta Endowed Chair in Molecular Immunology SymposiumNewport Beach, CAJan. 1, 2009
The association between autoimmunity and immunodeficiency disorders-tragic stories of indifference and disloyalty39. Duke University Medical Center Pediatric Grand RoundsDurham, NCJan. 1, 2009
New tricks from old transcription factors: FOXP3 and STAT3 in human Immunodeficiency disorders40. Duke University Medical Center Immunology Seminar SeriesDurham, NCJan. 1, 2009
Immunology dysregulation, polyendocrinopathy, enteropathy, x-linked and forkhead box P341. American College of Rheumatology Annual MeetingPhiladelphia, PAJan. 1, 2009
New mutations affecting innate immunity42. American College of Rheumatology Annual MeetingPhiladelphia, PAJan. 1, 2009
Insights into FOXP3 and STAT3 transcription factor biology from human disease43. Stanford University Immunology Program Seminar SeriesPalo Alto, CAJan. 1, 2009
IPEX44. American Autoimmune Related Diseases Association Scientific ColloquiumBaltimore, MDJan. 1, 2009

Research Funding

Grant TitleGrantorAmountAward Date
Developmental and Genetic Defects of ImmunityNIH/NICHD $$228,926March 1, 2004 - Aug. 31, 2010

Primary Office

Seattle Children's Research Institute
JMB - 7 - Immunology
1900 - 9th Ave
Seattle, WA 98101
206-987-7450

Additional Offices

Seattle Children's
MA.7.110 - Rheumatology
4800 Sand Point Way NE
Seattle, WA 98105
206-987-2057

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