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Author Details

Alexandra F Freeman
National Institute of Allergy and Infectious Diseases
2001
224
59
PMIDPaper TitleJournal TitlePublished Year
38040041GenIA, the Genetic Immunology Advisor database for inborn errors of immunity.J Allergy Clin Immunol2024
36703223The genomic landscape of rare disorders in the Middle East.Genome Med2023
37824621Characterization of the antispike IgG immune response to COVID-19 vaccines in people with a wide variety of immunodeficiencies.Sci Adv2023
37683824Early intervention in STAT3 dominant negative disease.J Allergy Clin Immunol Pract2023
37054882Inborn Errors of Immunity: A Role for Functional Testing and Flow Cytometry in Aiding Clinical Diagnosis.J Allergy Clin Immunol Pract2023
37305844Successful Use of Fosmanogepix for Treatment of Rare Highly Resistant Cutaneous Fusariosis in a Pediatric Patient With STAT3 Hyper-Immunoglobulin E Syndrome and End-Stage Kidney Disease.Open Forum Infect Dis2023
37037391Disseminated mycobacterial infections after tumor necrosis factor inhibitor use, revealing inborn errors of immunity.Int J Infect Dis2023
37133586Reappraisal of Idiopathic CD4 Lymphocytopenia at 30 Years.N Engl J Med2023
36813184A multifaceted disease: The stats of STAT3 GOF.J Allergy Clin Immunol2023
36504258Primary Invasive Cutaneous Fusariosis in Patients with STAT3 Hyper-IgE Syndrome.J Clin Immunol2023
34764490Autocrine vitamin D signaling switches off pro-inflammatory programs of T<sub>H</sub>1 cells.Nat Immunol2022
35507130Ex vivo effect of JAK inhibition on JAK-STAT1 pathway hyperactivation in patients with dominant-negative STAT3 mutations.J Clin Immunol2022
35435464Cerebral aneurysm in three pediatric patients with STAT1 gain-of-function mutations.J Neurol2022
35699443Efficacy of Cochleated Amphotericin B in Mouse and Human Mucocutaneous Candidiasis.Antimicrob Agents Chemother2022
35466407Tip of the iceberg: A comprehensive review of liver disease in Inborn errors of immunity.Hepatology2022
35425731Supporting Careers of Women in Clinical Immunology: From Conceptualization to Implementation.Front Pediatr2022
35999252Tandem hematopoietic stem cell transplant considerations in families with multiple siblings affected by DOCK8 deficiency.Bone Marrow Transplant2022
35869404HEM1 Actin Immunodysregulatory Disorder: Genotypes, Phenotypes, and Future Directions.J Clin Immunol2022
36105815Detrimental <i>NFKB1</i> missense variants affecting the Rel-homology domain of p105/p50.Front Immunol2022
36166305Immunogenetics associated with severe coccidioidomycosis.JCI Insight2022
36377664Human Dectin-1 deficiency impairs macrophage-mediated defense against phaeohyphomycosis.J Clin Invest2022
35093604Targeted IL-4Rα blockade ameliorates refractory allergic eosinophilic inflammation in a patient with dysregulated TGF-β signaling due to ERBIN deficiency.J Allergy Clin Immunol Pract2022
34937930Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease.Nat Immunol2022
35085810Treatment of STAT3-deficient hyper-immunoglobulin E syndrome with monoclonal antibodies targeting allergic inflammation.J Allergy Clin Immunol Pract2022
35227935Eosinophilia Associated With Immune Deficiency.J Allergy Clin Immunol Pract2022
32768442Lupus-like autoimmunity and increased interferon response in patients with STAT3-deficient hyper-IgE syndrome.J Allergy Clin Immunol2021
33876203SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.Blood2021
33528026Daratumumab for delayed RBC engraftment following major ABO mismatched haploidentical bone marrow transplantation.Transfusion2021
33932191STAT3 Hyper-IgE Syndrome-an Update and Unanswered Questions.J Clin Immunol2021
33662027Differential responses to folic acid in an established keloid fibroblast cell line are mediated by JAK1/2 and STAT3.PLoS One2021
34975916Case Report: Fatal Complications of BK Virus-Hemorrhagic Cystitis and Severe Cytokine Release Syndrome Following BK Virus-Specific T-Cells.Front Immunol2021
34473196Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency.J Exp Med2021
34492260Antibody responses to the SARS-CoV-2 vaccine in individuals with various inborn errors of immunity.J Allergy Clin Immunol2021
34040193Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.Genet Med2021
34089740Pulmonary Manifestations of GATA2 Deficiency.Chest2021
33404973An Unusual Pattern of Premature Cervical Spine Degeneration in STAT3-LOF.J Clin Immunol2021
33422677Characterization of autoantibodies, immunophenotype and autoimmune disease in a prospective cohort of patients with idiopathic CD4 lymphocytopenia.Clin Immunol2021
31190050Immune Reconstitution Inflammatory Syndrome as a Posttransplantation Complication in Primary Immunodeficiency With Disseminated Mycobacterium avium.Clin Infect Dis2020
31970398Evaluation of Genotypic Antiviral Resistance Testing as an Alternative to Phenotypic Testing in a Patient with DOCK8 Deficiency and Severe HSV-1 Disease.J Infect Dis2020
31959990Targeted therapy guided by single-cell transcriptomic analysis in drug-induced hypersensitivity syndrome: a case report.Nat Med2020
31805313Germline gain-of-function mutation of STAT1 rescued by somatic mosaicism in immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like disorder.J Allergy Clin Immunol2020
33356838Tissue specific diversification, virulence and immune response to <i>Mycobacterium bovis</i> BCG in a patient with an IFN-γ R1 deficiency.Virulence2020
32915432Spontaneous Gastrointestinal Perforations in STAT3-Deficient Hyper-IgE Syndrome.J Clin Immunol2020
32830295The Child with Elevated IgE and Infection Susceptibility.Curr Allergy Asthma Rep2020
32743590An autocrine Vitamin D-driven Th1 shutdown program can be exploited for COVID-19.bioRxiv2020
32634122Prevalence and pathogenicity of autoantibodies in patients with idiopathic CD4 lymphopenia.J Clin Invest2020
33014947Hematopoietic Stem Cell Transplantation and Vasculopathy Associated With STAT3-Dominant-Negative Hyper-IgE Syndrome.Front Pediatr2020
32585411Cryptosporidium infection in dedicator of cytokinesis 8 (DOCK 8) deficiency.J Allergy Clin Immunol Pract2020
33020661Migration-induced cell shattering due to DOCK8 deficiency causes a type 2-biased helper T cell response.Nat Immunol2020
32696285Obstetric and Gynecological Care in Patients with STAT3-Deficient Hyper IgE Syndrome.J Clin Immunol2020
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Collaborators

Joshua D Milner
Columbia University
Co-authored papers 32
Joie Davis
National Institutes of Health
Co-authored papers 16
Douglas B Kuhns
Frederick National Laboratory for Cancer Research
Co-authored papers 15
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National Cancer Institute, National Institutes of Health
Co-authored papers 14
Theo Heller
National Institute of Diabetes and Digestive and Kidney Diseases
Co-authored papers 12
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National Institute of Allergy and Infectious Diseases
Co-authored papers 12
Jenna R E Bergerson
National Institute of Allergy and Infectious Diseases, National Institutes of Health
Co-authored papers 11
Stanford T Shulman
Northwestern University Feinberg School of Medicine
Co-authored papers 10
Edward W Cowen
National Institute of Arthritis and Musculoskeletal and Skin Diseases
Co-authored papers 10
Debra A Long Priel
Leidos Biomedical Research Inc., Frederick National Laboratory for Cancer Research
Co-authored papers 6
Michael P O'Connell
National Institute of Allergy and Infectious Diseases, National Institutes of Health
Co-authored papers 5
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Precision Immunology Institute, Icahn School of Medicine at Mount Sinai
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Alejandro A Sch??ffer
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Co-authored papers 4
Jean K Lim
Icahn School of Medicine at Mount Sinai
Co-authored papers 3
Yasmine Belkaid
National Institute of Allergy and Infectious Diseases
Co-authored papers 3
Daniel L Kastner
Co-authored papers 3
Martha Quezado
National Cancer Institute (NCI), National Institutes of Health (NIH)
Co-authored papers 3
Marc E Rothenberg
Cincinnati Children's Hospital Medical Center
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Preeti Jaggi
Emory University School of Medicine
Co-authored papers 2
Jason M Brenchley
National Institute of Allergy and Infectious Diseases, National Institutes of Health
Co-authored papers 2
Elvia Mendoza-Caamal
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Karen Lau
Inc., Frederick National Laboratory for Cancer Research
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Susan E Crawford
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Release 1.2