Publications by authors named "Alexandra F Freeman"

99Publications

An Unusual Pattern of Premature Cervical Spine Degeneration in STAT3-LOF.

J Clin Immunol 2021 Jan 6. Epub 2021 Jan 6.

Center for Infectious Disease Imaging, Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, MD, USA.

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January 2021

Spontaneous Gastrointestinal Perforations in STAT3-Deficient Hyper-IgE Syndrome.

J Clin Immunol 2020 Nov 11;40(8):1199-1203. Epub 2020 Sep 11.

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 10 Center Drive, Clinical Research Center, Room 12C103, Bethesda, MD, 20892, USA.

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November 2020

The Child with Elevated IgE and Infection Susceptibility.

Curr Allergy Asthma Rep 2020 Aug 24;20(11):65. Epub 2020 Aug 24.

Division of Allergy, Immunology and Rheumatology, Columbia University Medical Center, New York-Presbyterian Morgan Stanley Children's Hospital, New York, NY, USA.

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August 2020

Lupus-like autoimmunity and increased interferon response in patients with STAT3-deficient hyper-IgE syndrome.

J Allergy Clin Immunol 2020 Aug 5. Epub 2020 Aug 5.

Systemic Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Md. Electronic address:

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August 2020

Obstetric and Gynecological Care in Patients with STAT3-Deficient Hyper IgE Syndrome.

J Clin Immunol 2020 Oct 21;40(7):1048-1050. Epub 2020 Jul 21.

National Institute of Allergy and Infectious Diseases, National Institutes of Health, NIH Building 10 Room 12C103, 9000 Rockville Pike, Bethesda, MD, 20892, USA.

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October 2020

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

J Allergy Clin Immunol 2020 Oct 9;146(4):901-911. Epub 2020 Apr 9.

Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; CIBSS (Centre for Integrative Biological Signalling Studies), University of Freiburg, Freiburg, Germany; RESIST - Cluster of Excellence 2155 to Hanover Medical School, Satellite Center Freiburg, Freiburg, Germany; Institute of Immunology and Transplantation, Royal Free Hospital and University College London, London, United Kingdom; DZIF (German Center for Infection Research) Satellite Center Freiburg, Freiburg, Germany; Rheumatology and Clinical Immunology, Center for Chronic Immunodeficiency, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address:

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October 2020

Germline gain-of-function mutation of STAT1 rescued by somatic mosaicism in immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like disorder.

J Allergy Clin Immunol 2020 03 2;145(3):1017-1021. Epub 2019 Dec 2.

Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Korea; Biomedical Science and Engineering Interdisciplinary Program, Korea Advanced Institute of Science and Technology, Korea. Electronic address:

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March 2020

Wiskott-Aldrich Syndrome (WAS) and Dedicator of Cytokinesis 8- (DOCK8) Deficiency.

Front Pediatr 2019 5;7:451. Epub 2019 Nov 5.

National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, United States.

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November 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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June 2020

IL-10 Indirectly Downregulates IL-4-Induced IgE Production by Human B Cells.

Immunohorizons 2018 12 18;2(11):398-406. Epub 2018 Dec 18.

Helminth Immunology Section, Laboratory of Parasitic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892; and

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December 2018

IL-21/type I interferon interplay regulates neutrophil-dependent innate immune responses to .

Elife 2019 04 16;8. Epub 2019 Apr 16.

Laboratory of Molecular Immunology, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, United States.

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April 2019

Hematopoietic Stem Cell Transplantation in Primary Immunodeficiencies Beyond Severe Combined Immunodeficiency.

J Pediatric Infect Dis Soc 2018 Dec;7(suppl_2):S79-S82

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

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December 2018

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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January 2019

Addendum to: Haploidentical Related Donor Hematopoietic Stem Cell Transplantation for DOCK8 Deficiency Using Post-Transplantation Cyclophosphamide.

Biol Blood Marrow Transplant 2019 02 22;25(2):e65-e67. Epub 2018 Nov 22.

Experimental Transplantation and Immunology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.

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February 2019

An Update on Syndromes with a Hyper-IgE Phenotype.

Immunol Allergy Clin North Am 2019 02;39(1):49-61

Laboratory of Clinical Immunology and Microbiology, National Institutes of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), 10 Center Drive, Building 10, Room 12C103, Bethesda, MD 20892, USA. Electronic address:

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February 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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December 2018

Warts and DADA2: a Mere Coincidence?

J Clin Immunol 2018 11 1;38(8):836-843. Epub 2018 Nov 1.

Department of Pediatrics, Laboratory for Inborn Errors of Immunity, Department of Microbiology and Immunology, University Hospitals Leuven, KU Leuven, Herestraat 49 - bus 7003, 3000, Leuven, Belgium.

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November 2018

STAT1 and STAT3 mutations: important lessons for clinical immunologists.

Expert Rev Clin Immunol 2018 12 25;14(12):1029-1041. Epub 2018 Oct 25.

c National Institute of Allergy and Infectious Diseases, NIH , Bethesda , MD , USA.

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December 2018

Loss-of-function mutations in caspase recruitment domain-containing protein 14 (CARD14) are associated with a severe variant of atopic dermatitis.

J Allergy Clin Immunol 2019 01 21;143(1):173-181.e10. Epub 2018 Sep 21.

Department of Dermatology, Tel Aviv Medical Center, Tel Aviv, Israel; Department of Human Molecular Genetics and Biochemistry, Tel Aviv University, Tel Aviv, Israel. Electronic address:

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January 2019

Severe BCG-osis Misdiagnosed as Multidrug-Resistant Tuberculosis in an IL-12Rβ1-Deficient Peruvian Girl.

J Clin Immunol 2018 08 23;38(6):712-716. Epub 2018 Jul 23.

Functional Unit of Clinical Immunology and Primary Immunodeficiencies, Hospital Sant Joan de Déu, University of Barcelona, Pediatric Research Institute Sant Joan de Déu, Barcelona, Spain.

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August 2018

Human T9 differentiation is dependent on signal transducer and activator of transcription (STAT) 3 to restrain STAT1-mediated inhibition.

J Allergy Clin Immunol 2019 03 18;143(3):1108-1118.e4. Epub 2018 Jul 18.

Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. Electronic address:

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March 2019

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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September 2017

PD-L1 up-regulation restrains Th17 cell differentiation in loss- and gain-of-function patients.

J Exp Med 2017 Sep 14;214(9):2523-2533. Epub 2017 Jul 14.

Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD

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September 2017

Molecular Typing of Staphylococcus aureus Isolated from Patients with Autosomal Dominant Hyper IgE Syndrome.

Pathogens 2017 Jun 6;6(2). Epub 2017 Jun 6.

Bacterial Pathogenesis Unit, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

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June 2017

Coronary atherosclerosis and dilation in hyper IgE syndrome patients: Depiction by magnetic resonance vessel wall imaging and pathological correlation.

Atherosclerosis 2017 03 19;258:20-25. Epub 2017 Jan 19.

National Institute of Diabetes and Digestive and Kidney Diseases, Biomedical and Metabolic Imaging Branch, United States. Electronic address:

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March 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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July 2017

Resolution of Multifocal Epstein-Barr Virus-Related Smooth Muscle Tumor in a Patient with GATA2 Deficiency Following Hematopoietic Stem Cell Transplantation.

J Clin Immunol 2017 01 6;37(1):61-66. Epub 2016 Dec 6.

Experimental Transplantation and Immunology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

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January 2017

Current Status of Dedicator of Cytokinesis-Associated Immunodeficiency: DOCK8 and DOCK2.

Dermatol Clin 2017 Jan;35(1):11-19

Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA. Electronic address:

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January 2017

Mediastinal and Disseminated Mycobacterium kansasii Disease in GATA2 Deficiency.

Ann Am Thorac Soc 2016 12;13(12):2169-2173

1 Laboratory of Clinical Infectious Diseases, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, and.

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December 2016

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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March 2017

Hyper-IgE Syndromes and the Lung.

Clin Chest Med 2016 09 10;37(3):557-67. Epub 2016 Jun 10.

Laboratory of Clinical Infectious Diseases, NIAID, NHLBI, National Institutes of Health, Bethesda, MD, USA.

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September 2016

Distinct mutations at the same positions of STAT3 cause either loss or gain of function.

J Allergy Clin Immunol 2016 10 24;138(4):1222-1224.e2. Epub 2016 May 24.

Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. Electronic address:

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October 2016

Persistent nodal histoplasmosis in nuclear factor kappa B essential modulator deficiency: Report of a case and review of infection in primary immunodeficiencies.

J Allergy Clin Immunol 2016 09 24;138(3):903-905. Epub 2016 Apr 24.

Laboratory of Clinical Infectious Diseases, Division of Intramural Research, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, Md. Electronic address:

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September 2016

Diminution of signal transducer and activator of transcription 3 signaling inhibits vascular permeability and anaphylaxis.

J Allergy Clin Immunol 2016 07 2;138(1):187-199. Epub 2016 Mar 2.

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

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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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June 2016

Endemic mycoses in patients with STAT3-mutated hyper-IgE (Job) syndrome.

J Allergy Clin Immunol 2015 Nov 17;136(5):1411-3.e1-2. Epub 2015 Aug 17.

National Institute of Allergy and Infectious Diseases, National Institutes of Health (NIH), Bethesda, Md. Electronic address:

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November 2015

Primary immunodeficiency update: Part II. Syndromes associated with mucocutaneous candidiasis and noninfectious cutaneous manifestations.

J Am Acad Dermatol 2015 Sep;73(3):367-81; quiz 381-2

National Institutes of Health, National Cancer Institute, Bethesda, Maryland. Electronic address:

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September 2015

Primary immunodeficiency update: Part I. Syndromes associated with eczematous dermatitis.

J Am Acad Dermatol 2015 Sep;73(3):355-64; quiz 365-6

National Institutes of Health, National Cancer Institute, Bethesda, Maryland. Electronic address:

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September 2015

Eosinophilia Associated with Disorders of Immune Deficiency or Immune Dysregulation.

Immunol Allergy Clin North Am 2015 Aug;35(3):523-44

Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 10 Center Drive, Building 10/CRC, Room 12C103, Bethesda, MD 20892, USA. Electronic address:

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August 2015

Opposing roles of STAT1 and STAT3 in IL-21 function in CD4+ T cells.

Proc Natl Acad Sci U S A 2015 Jul 13;112(30):9394-9. Epub 2015 Jul 13.

Laboratory of Molecular Immunology and Immunology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892-1674;

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July 2015

IL2RG reversion event in a common lymphoid progenitor leads to delayed diagnosis and milder phenotype.

J Clin Immunol 2015 Jul 17;35(5):449-53. Epub 2015 Jun 17.

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

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July 2015

T-Cell Depletion in the Colonic Mucosa of Patients With Idiopathic CD4+ Lymphopenia.

J Infect Dis 2015 Nov 20;212(10):1579-87. Epub 2015 May 20.

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

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November 2015

Matched related and unrelated donor hematopoietic stem cell transplantation for DOCK8 deficiency.

Biol Blood Marrow Transplant 2015 Jun 27;21(6):1037-45. Epub 2015 Jan 27.

Experimental Transplantation and Immunology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland. Electronic address:

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June 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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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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June 2014

STAT3 interrupts ATR-Chk1 signaling to allow oncovirus-mediated cell proliferation.

Proc Natl Acad Sci U S A 2014 Apr 17;111(13):4946-51. Epub 2014 Mar 17.

Pediatric Infectious Diseases, Department of Pediatrics and Stony Brook Children's Hospital, Stony Brook University School of Medicine, Stony Brook, NY 11794.

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April 2014