Julie E Niemela

Julie E Niemela

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Julie E Niemela

Julie E Niemela

Publications by authors named "Julie E Niemela"

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39Publications

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Magnesium Restores Activity to Peripheral Blood Cells in a Patient With Functionally Impaired Interleukin-2-Inducible T Cell Kinase.

Front Immunol 2019 27;10:2000. Epub 2019 Aug 27.

Laboratory of Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.

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http://dx.doi.org/10.3389/fimmu.2019.02000DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6718476PMC
August 2019

Aspergillosis, eosinophilic esophagitis, and allergic rhinitis in signal transducer and activator of transcription 3 haploinsufficiency.

J Allergy Clin Immunol 2018 09 24;142(3):993-997.e3. Epub 2018 May 24.

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, Md. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2018.05.009DOI Listing
September 2018

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

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

Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations.

Blood 2014 Mar 7;123(13):1989-99. Epub 2014 Jan 7.

Molecular Development Section, Laboratory of Immunology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD;

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http://www.bloodjournal.org/lookup/doi/10.1182/blood-2013-10
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http://dx.doi.org/10.1182/blood-2013-10-535393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3968385PMC
March 2014

Cryptococcal osteomyelitis in a child with a novel compound mutation of the IL12RB1 gene.

Asian Pac J Allergy Immunol 2012 Mar;30(1):79-82

Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.

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http://search.proquest.com/openview/8f1740c66440b3e6421404b3
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March 2012

Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance.

Genet Med 2012 Jan 7;14(1):81-9. Epub 2011 Oct 7.

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

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http://dx.doi.org/10.1038/gim.0b013e3182310b7dDOI Listing
January 2012

FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome.

J Immunol 2011 May 13;186(10):6035-43. Epub 2011 Apr 13.

Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD 20814, USA.

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http://dx.doi.org/10.4049/jimmunol.1100021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3725553PMC
May 2011

Mutation analysis in primary immunodeficiency diseases: case studies.

Curr Opin Allergy Clin Immunol 2009 Dec;9(6):517-24

Laboratory of Clinical Infectious Disease, NIAID, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1097/ACI.0b013e3283328f59DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2774237PMC
December 2009

NRAS mutation causes a human autoimmune lymphoproliferative syndrome.

Proc Natl Acad Sci U S A 2007 May 16;104(21):8953-8. Epub 2007 May 16.

Department of Laboratory Medicine, Clinical Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1073/pnas.0702975104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1885609PMC
May 2007

Magnesium (mg) retention and mood effects after intravenous mg infusion in premenstrual dysphoric disorder.

Biol Psychiatry 2006 Feb 28;59(4):327-33. Epub 2005 Sep 28.

Behavioral Endocrinology Branch, National Institute of Mental Health, National Institute of Health, Department of Health and Human Services, Bethesda, Maryland 20892-1277, USA.

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http://dx.doi.org/10.1016/j.biopsych.2005.07.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1509101PMC
February 2006

Single nucleotide polymorphisms in the apoptosis receptor gene TNFRSF6.

Mol Cell Probes 2006 Feb 4;20(1):21-6. Epub 2005 Nov 4.

Department of Laboratory Medicine, Warren Grant Magnuson Clinical Center, NIH, Bethesda, MD, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S089085080500063
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http://dx.doi.org/10.1016/j.mcp.2005.05.004DOI Listing
February 2006

Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay.

J Allergy Clin Immunol 2003 Feb;111(2):374-9

Department of Laboratory Medicine, Warren G. Magnuson Clinical Center, National Institutes of Health, Building 10, Room 2C-306, 10 Center Drive, MSC 1508, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1067/mai.2003.58DOI Listing
February 2003

CYBB mutation analysis in X-linked chronic granulomatous disease.

Clin Immunol 2002 Jul;104(1):73-6

Department of Laboratory Medicine, Warren G. Magnuson Clinical Center, National Institutes of Health, Bethsda, MD 20892, USA.

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July 2002

Effects of interleukin 2 therapy on lymphocyte magnesium levels.

J Lab Clin Med 2002 Jan;139(1):5-12

Surgery Branch, Clinical Pathology, and Biostatistics and Data Management Section, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.

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January 2002