Helen C Su

Helen C Su

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Helen C Su

Helen C Su

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New immunodeficiency syndromes that help us understand the IFN-mediated antiviral immune response.

Curr Opin Pediatr 2019 Dec;31(6):815-820

Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1097/MOP.0000000000000827DOI Listing
December 2019

Human Plasma-like Medium Improves T Lymphocyte Activation.

iScience 2019 Dec 11;23(1):100759. Epub 2019 Dec 11.

Molecular Development of the Immune System Section, Laboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA; Immunology Graduate Group, Biomedical Graduate Studies, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.isci.2019.100759DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6941860PMC
December 2019

Compound Heterozygous DOCK8 Mutations in a Patient with B Lymphoblastic Leukemia and EBV-Associated Diffuse Large B Cell Lymphoma.

J Clin Immunol 2019 Aug 2;39(6):592-595. Epub 2019 Jul 2.

Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD, USA.

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http://dx.doi.org/10.1007/s10875-019-00663-yDOI Listing
August 2019

New immunodeficiency syndromes that help us understand the IFN-mediated antiviral immune response.

Curr Opin Pediatr 2019 Aug 28. Epub 2019 Aug 28.

Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1097/MOP.0000000000000827DOI Listing
August 2019

Evaluation of Mannose Binding Lectin Gene Variants in Pediatric Influenza Virus-Related Critical Illness.

Front Immunol 2019 8;10:1005. Epub 2019 May 8.

Division of Critical Care Medicine, Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital and Department of Anaesthesia, Harvard Medical School, Boston, MA, United States.

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http://dx.doi.org/10.3389/fimmu.2019.01005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6518443PMC
May 2019

Impaired Control of Epstein-Barr Virus Infection in B-Cell Expansion with NF-κB and T-Cell Anergy Disease.

Front Immunol 2018 8;9:198. Epub 2018 Feb 8.

Department of Pharmacology and Molecular Therapeutics, Uniformed Services University of the Health Sciences, Bethesda, MD, United States.

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http://dx.doi.org/10.3389/fimmu.2018.00198DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5809398PMC
April 2019

Insights into immunity from clinical and basic science studies of DOCK8 immunodeficiency syndrome.

Immunol Rev 2019 01;287(1):9-19

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1111/imr.12723DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6350515PMC
January 2019

Expanded skin virome in DOCK8-deficient patients.

Nat Med 2018 12 5;24(12):1815-1821. Epub 2018 Nov 5.

Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/s41591-018-0211-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6286253PMC
December 2018

RELA haploinsufficiency in CD4 lymphoproliferative disease with autoimmune cytopenias.

J Allergy Clin Immunol 2018 04 2;141(4):1507-1510.e8. Epub 2018 Jan 2.

Molecular Development of the Immune System Section, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md; Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00916749173301
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http://dx.doi.org/10.1016/j.jaci.2017.11.036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5889970PMC
April 2018

CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis.

N Engl J Med 2017 07 28;377(1):52-61. Epub 2017 Jun 28.

From the Section of Molecular Development of the Immune System, Laboratory of Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.), National Institutes of Health, Bethesda, MD; the Department of Pediatrics, Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology, and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology, and Nutrition, İstanbul University Cerrahpaşa Faculty of Medicine (Ö.F.B., T.E.), Istanbul, and the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of Medicine, Başkent University (F.O., Z.B., M.G.), and the Pediatric Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.), the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna Kinderspital and Children's Cancer Research Institute, Department of Pediatrics (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, University Medical Center (H.L.L.), Utrecht, the Netherlands.

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http://dx.doi.org/10.1056/NEJMoa1615887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6690356PMC
July 2017

Dedicator of cytokinesis 8-deficient CD4 T cells are biased to a T2 effector fate at the expense of T1 and T17 cells.

J Allergy Clin Immunol 2017 Mar 20;139(3):933-949. Epub 2016 Aug 20.

Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, University of New South Wales, Darlinghurst, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.07.016DOI Listing
March 2017

CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency.

Blood 2016 08 14;128(8):1037-42. Epub 2016 Jul 14.

Molecular Development of the Immune System Section, Laboratory of Immunology, Clinical Genomics Program.

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http://www.bloodjournal.org/cgi/doi/10.1182/blood-2016-04-71
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http://dx.doi.org/10.1182/blood-2016-04-712612DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5000841PMC
August 2016

Recent Advances in DOCK8 Immunodeficiency Syndrome.

J Clin Immunol 2016 07 20;36(5):441-9. Epub 2016 May 20.

Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Building 10CRC, Room 5-3940, 10 Center Dr., MSC 1456, Bethesda, MD, 20892-1456, USA.

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http://dx.doi.org/10.1007/s10875-016-0296-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4914394PMC
July 2016

Food allergies can persist after myeloablative hematopoietic stem cell transplantation in dedicator of cytokinesis 8-deficient patients.

J Allergy Clin Immunol 2016 06 28;137(6):1895-1898.e5. Epub 2016 Jan 28.

Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2015.11.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4899149PMC
June 2016

Genomics is rapidly advancing precision medicine for immunological disorders.

Nat Immunol 2015 Oct;16(10):1001-4

National Institute of Allergy and Infectious Diseases Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA, and Molecular Development of the Immune System Section, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/ni.3275DOI Listing
October 2015

AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy.

Science 2015 Jul;349(6246):436-40

Division of Bone Marrow Transplantation and Immune Deficiency, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA. Division of Immunobiology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center/ University of Cincinnati, Cincinnati, OH, USA.

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http://dx.doi.org/10.1126/science.aaa1663DOI Listing
July 2015

DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity.

J Exp Med 2014 Dec 24;211(13):2549-66. Epub 2014 Nov 24.

Laboratory of Host Defenses, Laboratory of Systems Biology, Laboratory of Immunology, and Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892

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http://dx.doi.org/10.1084/jem.20141307DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4267229PMC
December 2014

Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K.

J Exp Med 2014 Dec 8;211(13):2537-47. Epub 2014 Dec 8.

Molecular Development of the Immune System Section, Laboratory of Immunology; NIAID Clinical Genomics Program; Human Immunological Diseases Unit, Laboratory of Host Defenses; and Intramural Clinical Management and Operations Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892 Molecular Development of the Immune System Section, Laboratory of Immunology; NIAID Clinical Genomics Program; Human Immunological Diseases Unit, Laboratory of Host Defenses; and Intramural Clinical Management and Operations Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892

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http://dx.doi.org/10.1084/jem.20141759DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4267241PMC
December 2014

Dual proteolytic pathways govern glycolysis and immune competence.

Cell 2014 Dec;159(7):1578-90

Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA; NIAID Clinical Genomics Program, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2014.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297473PMC
December 2014

Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype.

J Allergy Clin Immunol 2014 Jun 3;133(6):1667-75. Epub 2014 May 3.

Laboratory of Host Defenses, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health (NIH), Bethesda, Md. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00916749140044
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http://dx.doi.org/10.1016/j.jaci.2014.03.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4132167PMC
June 2014

DOCK8 is critical for the survival and function of NKT cells.

Blood 2013 Sep 8;122(12):2052-61. Epub 2013 Aug 8.

Medical Research Council Human Immunology Unit, Weatherall Institute for Molecular Medicine, Oxford University, John Radcliffe Hospital, Oxford, United Kingdom;

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http://dx.doi.org/10.1182/blood-2013-02-482331DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778549PMC
September 2013

Designs for massively parallel sequencing approaches to identify causal mutations in human immune disorders.

Authors:
Yu Zhang Helen C Su

Methods Mol Biol 2013 ;979:175-87

Human Immunological Diseases Unit, Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1007/978-1-62703-290-2_14DOI Listing
August 2013

Congenital B cell lymphocytosis explained by novel germline CARD11 mutations.

J Exp Med 2012 Nov 5;209(12):2247-61. Epub 2012 Nov 5.

Lymphocyte Molecular Genetics Unit, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health (NIH), Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1084/jem.20120831DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3501355PMC
November 2012

Cutaneous manifestations of DOCK8 deficiency syndrome.

Arch Dermatol 2012 Jan 19;148(1):79-84. Epub 2011 Sep 19.

Dermatology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1001/archdermatol.2011.262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4103903PMC
January 2012

DOCK8 is essential for T-cell survival and the maintenance of CD8+ T-cell memory.

Eur J Immunol 2011 Dec 10;41(12):3423-35. Epub 2011 Nov 10.

Nuffield Department of Medicine, Henry Wellcome Building of Molecular Physiology, Oxford University, Oxford, UK.

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http://dx.doi.org/10.1002/eji.201141759DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3517112PMC
December 2011

Hyperimmunoglobulin E syndromes in pediatrics.

Curr Opin Pediatr 2011 Dec;23(6):653-8

Human Immunological Diseases Unit, Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1097/MOP.0b013e32834c7f65DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3294453PMC
December 2011

DOCK8 deficiency.

Ann N Y Acad Sci 2011 Dec;1246:26-33

Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892-1546, USA.

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http://doi.wiley.com/10.1111/j.1749-6632.2011.06295.x
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http://dx.doi.org/10.1111/j.1749-6632.2011.06295.xDOI Listing
December 2011

Second messenger role for Mg2+ revealed by human T-cell immunodeficiency.

Nature 2011 Jul 27;475(7357):471-6. Epub 2011 Jul 27.

Molecular Development Section, Lymphocyte Molecular Genetics Unit, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1038/nature10246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3159560PMC
July 2011

Combined immunodeficiency associated with DOCK8 mutations and related immunodeficiencies.

Authors:
Helen C Su

Dis Markers 2010 ;29(3-4):121-2

Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.3233/DMA-2010-0751DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3835534PMC
April 2011

Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome.

Dis Markers 2010 ;29(3-4):131-9

Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

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http://downloads.hindawi.com/journals/dm/2010/972591.pdf
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http://dx.doi.org/10.3233/DMA-2010-0737DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3835385PMC
April 2011

Dedicator of cytokinesis 8 (DOCK8) deficiency.

Authors:
Helen C Su

Curr Opin Allergy Clin Immunol 2010 Dec;10(6):515-20

Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1097/ACI.0b013e32833fd718DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3096565PMC
December 2010

Combined immunodeficiency associated with DOCK8 mutations.

N Engl J Med 2009 Nov 23;361(21):2046-55. Epub 2009 Sep 23.

Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1056/NEJMoa0905506DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2965730PMC
November 2009

The technological transformation of patient-driven human immunology research.

Authors:
Helen C Su

Immunol Res 2009 ;43(1-3):167-71

National Institute of Allergy and Infectious Diseases, National Institutes of Health, Building 10CRC, Room 5W3940, 10CRC Center Dr., MSC 1456, Bethesda, MD 20892-1456, USA.

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http://link.springer.com/10.1007/s12026-008-8062-9
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http://dx.doi.org/10.1007/s12026-008-8062-9DOI Listing
June 2009

Genetic defects of apoptosis and primary immunodeficiency.

Immunol Allergy Clin North Am 2008 May;28(2):329-51, ix

Human Immunological Diseases Unit, Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Building 10 CRC, Room 5W-3932, 10 Center Dr., MSC 1456, Bethesda, MD 20892-1456, USA.

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http://dx.doi.org/10.1016/j.iac.2008.01.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2671802PMC
May 2008

Genetic disorders of programmed cell death in the immune system.

Annu Rev Immunol 2006 ;24:321-52

Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://www.annualreviews.org/doi/10.1146/annurev.immunol.24.
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http://dx.doi.org/10.1146/annurev.immunol.24.021605.090513DOI Listing
June 2006