Sergio D Rosenzweig

Sergio D Rosenzweig

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Sergio D Rosenzweig

Sergio D Rosenzweig

Publications by authors named "Sergio D Rosenzweig"

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Class-Switch Recombination (CSR)/Hyper-IgM (HIGM) Syndromes and Phosphoinositide 3-Kinase (PI3K) Defects.

Front Immunol 2018 26;9:2172. Epub 2018 Sep 26.

Immunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD, United States.

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https://www.frontiersin.org/article/10.3389/fimmu.2018.02172
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http://dx.doi.org/10.3389/fimmu.2018.02172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6168630PMC
October 2019

Lymphocyte reference intervals in the era of newborn screening.

J Allergy Clin Immunol 2019 Oct 7. Epub 2019 Oct 7.

Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, Md.

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http://dx.doi.org/10.1016/j.jaci.2019.09.022DOI Listing
October 2019

Allogeneic hematopoietic stem cell transplant outcomes for patients with dominant negative IKZF1/IKAROS mutations.

J Allergy Clin Immunol 2019 Jul 6;144(1):339-342. Epub 2019 Apr 6.

Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center and University of Cincinnati, Cincinnati, Ohio.

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http://dx.doi.org/10.1016/j.jaci.2019.03.025DOI Listing
July 2019

Skewed Lymphocyte Subpopulations and Associated Phenotypes in Patients with Mastocytosis.

J Allergy Clin Immunol Pract 2019 Jul 15. Epub 2019 Jul 15.

Laboratory of Allergic Diseases, 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.jaip.2019.07.004DOI Listing
July 2019

Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation.

Front Immunol 2019 10;10:1433. Epub 2019 Jul 10.

Laboratory of Clinical Immunology and Microbiology, Immunopathogenesis Section, National Institute of Allergy and Immunology, National Institutes of Health, Bethesda, MD, United States.

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http://dx.doi.org/10.3389/fimmu.2019.01433DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6635460PMC
July 2019

PI3K pathway defects leading to immunodeficiency and immune dysregulation.

J Allergy Clin Immunol 2019 May;143(5):1676-1687

Immunology Service, Department of Laboratory Medicine, National Institutes of Health (NIH) Clinical Center, Bethesda, Md. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00916749193042
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http://dx.doi.org/10.1016/j.jaci.2019.03.017DOI Listing
May 2019

Case Report: Ocular toxoplasmosis in a WHIM syndrome immunodeficiency patient.

F1000Res 2019 2;8. Epub 2019 Jan 2.

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

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https://f1000research.com/articles/8-2/v2
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http://dx.doi.org/10.12688/f1000research.16825.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587139.2PMC
January 2019

Old vaccines, new diseases: when BCG meets SPPL2a.

Nat Immunol 2018 09;19(9):906-907

Immunology Service, Department of Laboratory Medicine, NIH Clinical Center, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/s41590-018-0193-0DOI Listing
September 2018

Bacille Calmette-Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010-2017.

Front Immunol 2018 22;9:1423. Epub 2018 Jun 22.

Immunology Service, Department of Laboratory Medicine, NIH Clinical Center, National Institutes of Health (NIH), Bethesda, MD, United States.

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http://dx.doi.org/10.3389/fimmu.2018.01423DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6023996PMC
June 2018

Decreased lymphocytes and increased risk for infection are common in endogenous pediatric Cushing syndrome.

Pediatr Res 2018 02 6;83(2):431-437. Epub 2017 Dec 6.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1038/pr.2017.278DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5866174PMC
February 2018

A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects.

J Allergy Clin Immunol 2018 01 18;141(1):432-435.e7. Epub 2017 Sep 18.

Clinical Immunology Research Laboratory, Department of Pulmonary Medicine, Ghent University Hospital, Ghent, Belgium; Center for Primary Immunodeficiency, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium; Laboratory of Immunoregulation, VIB Inflammation Research Center, Ghent, Belgium; Department of Internal Medicine, Ghent University, Ghent, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2017.08.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6588539PMC
January 2018

An update on gain-of-function mutations in primary immunodeficiency diseases.

Curr Opin Allergy Clin Immunol 2017 Dec;17(6):391-397

aNational Institutes of Allergy and Infectious Diseases bDepartment of Laboratory Medicine, Immunology Service, NIH Clinical Center, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1097/ACI.0000000000000401DOI Listing
December 2017

Risks of Ruxolitinib in Gain-of-Function-Associated Severe Fungal Disease.

Open Forum Infect Dis 2017 22;4(4):ofx202. Epub 2017 Sep 22.

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

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https://academic.oup.com/ofid/article/doi/10.1093/ofid/ofx20
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http://dx.doi.org/10.1093/ofid/ofx202DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5714179PMC
September 2017

Granulocyte transfusions in patients with chronic granulomatous disease and refractory infections: The NIH experience.

J Allergy Clin Immunol 2017 08 22;140(2):622-625. Epub 2017 Mar 22.

Immunology Service, Department of Laboratory Medicine, NIH Clinical Center, National Institutes of Health, Bethesda, Md; Primary Immunodeficiency Clinic, NIAID, National Institutes of Health, Bethesda, Md. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2017.02.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5546986PMC
August 2017

Detection of phosphoglucomutase-3 deficiency by lectin-based flow cytometry.

J Allergy Clin Immunol 2017 07 4;140(1):291-294.e4. Epub 2017 Jan 4.

Laboratory of Allergic Diseases, 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.2016.12.951DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5496781PMC
July 2017

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.

Sci Rep 2017 06 16;7(1):3702. Epub 2017 Jun 16.

Clinical Immunology Research Lab, Department of Pulmonary Medicine, Centre for Primary Immunodeficiency, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1038/s41598-017-02434-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473876PMC
June 2017

Susceptibility to Cryptococcal Meningoencephalitis Associated With Idiopathic CD4 Lymphopenia and Secondary Germline or Acquired Defects.

Open Forum Infect Dis 2017 7;4(2):ofx082. Epub 2017 Jun 7.

Laboratory of Clinical Infectious Diseases, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH).

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http://dx.doi.org/10.1093/ofid/ofx082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5461987PMC
June 2017

First Case of X-Linked Moesin Deficiency Identified After Newborn Screening for SCID.

J Clin Immunol 2017 05 4;37(4):336-338. Epub 2017 Apr 4.

Immune Deficiency Genetics Section, Laboratory of Host Defenses, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Building 10 CRC, Room 5-3950, 10 Center Drive, MSC 1456, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1007/s10875-017-0391-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6082367PMC
May 2017

Ataxia telangiectasia associated with nodular regenerative hyperplasia.

J Clin Immunol 2016 11 26;36(8):739-742. Epub 2016 Sep 26.

Primary Immunodeficiency Clinic, NIAID, NIH, Building 10, Room 2C410, 10 Center Drive, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1007/s10875-016-0334-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097878PMC
November 2016

A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID).

J Clin Immunol 2016 08 2;36(6):541-3. Epub 2016 Jul 2.

Department of Laboratory Medicine, NIH Clinical Center, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1007/s10875-016-0309-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5007618PMC
August 2016

Application of Flow Cytometry in the Evaluation of Primary Immunodeficiencies.

Indian J Pediatr 2016 May 11;83(5):444-9. Epub 2016 Feb 11.

Department of Laboratory Medicine, NIH Clinical Center, Building 10, Room 2C306, 10 Center Drive, MSC1508, Bethesda, MD, USA.

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http://dx.doi.org/10.1007/s12098-015-2011-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5007620PMC
May 2016

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.

J Exp Med 2015 Sep 24;212(10):1641-62. Epub 2015 Aug 24.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France

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http://dx.doi.org/10.1084/jem.20140280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4577846PMC
September 2015

Glycans Instructing Immunity: The Emerging Role of Altered Glycosylation in Clinical Immunology.

Front Pediatr 2015 11;3:54. Epub 2015 Jun 11.

Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health , Bethesda, MD , USA ; Primary Immunodeficiency Clinic, National Institute of Allergy and Infectious Diseases, National Institutes of Health , Bethesda, MD , USA.

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http://dx.doi.org/10.3389/fped.2015.00054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4463932PMC
June 2015

Corrigendum: Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome.

Front Pediatr 2015 16;3:28. Epub 2015 Apr 16.

Department of Immunology, Allergy and Rheumatology, Baylor College of Medicine, Texas Children's Hospital , Houston, TX , USA.

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http://dx.doi.org/10.3389/fped.2015.00028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4398912PMC
May 2015

Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis.

J Clin Immunol 2015 Jan 29;35(1):11-4. Epub 2014 Oct 29.

Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.

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http://dx.doi.org/10.1007/s10875-014-0109-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4769101PMC
January 2015

Intact IL-12 signaling is necessary for the generation of human natural killer cells with enhanced effector function after restimulation.

J Allergy Clin Immunol 2014 Nov 25;134(5):1190-3.e1. Epub 2014 Jul 25.

Laboratory of Molecular and Developmental Immunology, Division of Monoclonal Antibodies, Center for Drug Evaluation and Research, Food and Drug Administration, Bethesda, Md; BioCruces Health Research Institute, Barakaldo, Spain; Ikerbasque, Basque Foundation for Science, Bilbao, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2014.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4252978PMC
November 2014

Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs.

Front Immunol 2014 3;5:531. Epub 2014 Nov 3.

Department of Laboratory Medicine, Clinical Center, National Institutes of Health , Bethesda, MD , USA.

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http://dx.doi.org/10.3389/fimmu.2014.00531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4217515PMC
November 2014

Glycosylation, hypogammaglobulinemia, and resistance to viral infections.

N Engl J Med 2014 Apr 9;370(17):1615-1625. Epub 2014 Apr 9.

Infectious Diseases Susceptibility Unit, Laboratory of Host Defenses (M.A.S., N.H., E.N., R.M., M.G., S.D.R.), Laboratory of Immunoregulation (S.M., T.-W.C., P.L., L.J.Y.K., A.L., R.C., J.S.J., D.M.), Laboratory of Infectious Diseases (M.J.M., T.B.), Laboratory of Clinical Infectious Diseases (B.E.M.), Laboratory of Immunogenetics (G.H., D.S., P.S.), and Primary Immunodeficiency Clinic (S.D.R.), National Institute of Allergy and Infectious Diseases, the Undiagnosed Diseases Program, National Human Research Genome Institute (L.W., H.V., Y.H. D.A., C.F.B.), the Department of Laboratory Medicine, Clinical Center (K.R.C., J.S.), and Oral and Pharyngeal Cancer Branch (V.P.) and Adeno-Associated Virus Biology Section (J.A.C., G.D.P.), National Institute of Dental and Craniofacial Research - all at the National Institutes of Health, Bethesda, the Center for Biologics Evaluation and Research (G.K., J.J.) and the Center for Drug Evaluation and Research (D.C.I., C.G., D.V.), Food and Drug Administration Clinical Services Program, Silver Spring, and SAIC-Frederick, Frederick National Laboratory for Cancer Research, Frederick (D.A.L.P., D.B.K.) - all in Maryland; the Department of Human Genetics, Emory University School of Medicine, Atlanta (M. He, M. Hegde); and the IAVI (International AIDS Vaccine Initiative) Center for Neutralizing Antibodies at TSRI and the Department of Immunology and Microbial Science, Scripps Research Institute, La Jolla, CA (Y.L.).

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http://dx.doi.org/10.1056/NEJMoa1302846DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4066413PMC
April 2014

News from the CIS Executive Committee.

J Clin Immunol 2014 Feb 9;34(2):129. Epub 2014 Jan 9.

NIH, Rockville, MD, USA,

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http://dx.doi.org/10.1007/s10875-013-9984-0DOI Listing
February 2014

Laboratory evaluation for T-cell dysfunction.

J Allergy Clin Immunol 2013 Feb;131(2):622-3.e1-4

Laboratory of Host Defense, National Institute of Allergy and Infectious Diseases, National Institutes of Health, and the Department of Laboratory Medicine, CC, National Institutes of Health, Bethesda, Md 20892-1508, USA.

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http://dx.doi.org/10.1016/j.jaci.2012.11.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4159083PMC
February 2013

A novel internalization motif regulates human IFN-γ R1 endocytosis.

J Leukoc Biol 2012 Aug 17;92(2):301-8. Epub 2012 May 17.

Servicio de Inmunología y Reumatología, Hospital Nacional de Pediatría J. P. Garrahan, Buenos Aires, Argentina.

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http://dx.doi.org/10.1189/jlb.0212057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3395421PMC
August 2012

Bacillus Calmette-Guérin (BCG) complications associated with primary immunodeficiency diseases.

J Infect 2012 Jun 16;64(6):543-54. Epub 2012 Mar 16.

Pediatric Infectious Diseases Research Center, Tehran University of Medical Sciences, Tehran, Iran.

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https://linkinghub.elsevier.com/retrieve/pii/S01634453120007
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http://dx.doi.org/10.1016/j.jinf.2012.03.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4792288PMC
June 2012

Recent insights into the pathobiology of innate immune deficiencies.

Curr Allergy Asthma Rep 2011 Oct;11(5):369-77

Infectious Diseases Susceptibility Unit, Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 10 Center Drive, Building 10, CRC 6W-3750, Bethesda, MD 20892-1456, USA.

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http://dx.doi.org/10.1007/s11882-011-0212-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3407815PMC
October 2011

Bone marrow findings at diagnosis in patients with multisystem langerhans cell histiocytosis.

Pediatr Dev Pathol 2010 Mar-Apr;13(2):101-6

Department of Pathology, Hospital de Pediatría Prof Dr J.P. Garrahan, Combate de los Pozos 1881, Buenos Aires (1245), Argentina.

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http://dx.doi.org/10.2350/09-05-0651-OA.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3740343PMC
June 2010

Chronic granulomatous disease: complications and management.

Expert Rev Clin Immunol 2009 Jan;5(1):45-53

Servicio de Inmunología, Hospital Nacional de Pediatría J. P. Garrahan, Combate de los Pozos 1881 (1245), Buenos Aires, Argentina.

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http://dx.doi.org/10.1586/1744666X.5.1.45DOI Listing
January 2009

Disseminated Mycobacterium avium infection in a patient with a novel mutation in the interleukin-12 receptor-beta1 chain.

J Pediatr 2008 Nov;153(5):721-2

Department of Pediatric Pulmonology and Immunology, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1016/j.jpeds.2008.05.050DOI Listing
November 2008

Hepatitis A-associated macrophage activation syndrome in children with systemic juvenile idiopathic arthritis: report of 2 cases.

J Rheumatol 2008 Jan 15;35(1):166-8. Epub 2007 Nov 15.

Servicio de Inmunología y Reumatología, Hospital de Pediatría Prof Dr Juan P Garrahan, Buenos Aires, Argentina.

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January 2008

Defects in the interferon-gamma and interleukin-12 pathways.

Immunol Rev 2005 Feb;203:38-47

Division of Immunology, Department of Pediatrics, Hospital Nacional de Pediatría Juan P. Garrahan, Buenos Aires, Argentina.

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http://dx.doi.org/10.1111/j.0105-2896.2005.00227.xDOI Listing
February 2005

Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies.

Lancet 2004 Dec 11-17;364(9451):2113-21

Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Building 10, CRC B3-419, 10 Center Drive, MSC 1684, Bethesda, MD 20892-1684, USA.

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http://dx.doi.org/10.1016/S0140-6736(04)17552-1DOI Listing
January 2005

Characterization of a dipeptide motif regulating IFN-gamma receptor 2 plasma membrane accumulation and IFN-gamma responsiveness.

J Immunol 2004 Sep;173(6):3991-9

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

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http://dx.doi.org/10.4049/jimmunol.173.6.3991DOI Listing
September 2004

A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states.

J Immunol 2004 Sep;173(6):4000-8

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/10.4049/jimmunol.173.6.4000DOI Listing
September 2004

Variable presentation of disseminated nontuberculous mycobacterial infections in a family with an interferon-gamma receptor mutation.

Clin Infect Dis 2004 Sep 27;39(6):868-70. Epub 2004 Aug 27.

Division of General Pediatrics, Childrens Hospital Los Angeles and Keck School of Medicine, University of Southern California, Los Angeles 90033, USA.

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https://academic.oup.com/cid/article-lookup/doi/10.1086/4238
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http://dx.doi.org/10.1086/423804DOI Listing
September 2004

Gastrointestinal involvement in chronic granulomatous disease.

Pediatrics 2004 Aug;114(2):462-8

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

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http://dx.doi.org/10.1542/peds.114.2.462DOI Listing
August 2004

Interferon-gamma receptor 1 promoter polymorphisms: population distribution and functional implications.

Clin Immunol 2004 Jul;112(1):113-9

Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, NIH, DHHS, Bethesda, MD 20892-1886, USA.

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http://dx.doi.org/10.1016/j.clim.2004.03.018DOI Listing
July 2004

Phagocyte immunodeficiencies and their infections.

J Allergy Clin Immunol 2004 Apr;113(4):620-6

Hospital Juan P. Garrahan, Buenos Aires, Argentina.

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http://dx.doi.org/10.1016/j.jaci.2004.02.001DOI Listing
April 2004

Congenital defects in the interferon-gamma/interleukin-12 pathway.

Curr Opin Pediatr 2004 Feb;16(1):3-8

Division of Immunology, Department of Pediatrics, Hospital Nacional de Pediatría Juan P. Garrahan, Buenos Aires, Argentina.

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http://dx.doi.org/10.1097/00008480-200402000-00003DOI Listing
February 2004

Fever and leg pain in a 42-month-old.

Ann Allergy Asthma Immunol 2002 Sep;89(3):239-43

Department of Allergy and Immunology, Walter Reed Army Medical Center, Washington, DC, USA.

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http://dx.doi.org/10.1016/S1081-1206(10)61949-7DOI Listing
September 2002