Search Results - "Satter, Lisa"
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1
Monogenically driven therapies: the new first line
Published in Blood (13-01-2022)Get full text
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2
JAK/STAT defects and immune dysregulation, and guiding therapeutic choices
Published in Immunological reviews (01-03-2024)“…Summary Inborn errors of immunity (IEIs) encompass a diverse spectrum of genetic disorders that disrupt the intricate mechanisms of the immune system, leading…”
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3
Revaccination and Adverse Event Recurrence in Patients With Adverse Events Following Immunization
Published in Pediatrics (Evanston) (01-12-2023)Get full text
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4
The earlier, the better: RAG-deficient transplants
Published in Blood (16-02-2023)Get full text
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5
STAT5B restrains human B-cell differentiation to maintain humoral immune homeostasis
Published in Journal of allergy and clinical immunology (01-10-2022)“…Lymphocyte differentiation is regulated by coordinated actions of cytokines and signaling pathways. IL-21 activates STAT1, STAT3, and STAT5 and is fundamental…”
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6
STAT5b: A master regulator of key biological pathways
Published in Frontiers in immunology (23-01-2023)“…The Signal Transducer and Activator of Transcription (STAT)-5 proteins are required in immune regulation and homeostasis and play a crucial role in the…”
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7
NOD2 Polymorphisms May Direct a Crohn Disease Phenotype in Patients With Very Early‐Onset Inflammatory Bowel Disease
Published in Journal of pediatric gastroenterology and nutrition (01-12-2023)“…NOD2/CARD15 was the first susceptibility gene recognized for adult‐onset Crohn's (or Crohn) disease (CD). Recessive inheritance of NOD2 polymorphisms has been…”
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8
Plasma Metagenomic Sequencing Expedites Diagnosis of Disseminated BCG in an Infant With IKBKB Mutation
Published in The Pediatric infectious disease journal (01-05-2022)“…Infants with inborn errors of immunity (IEI), born in countries where Bacillus-Calmette-Guerin (BCG) vaccination is recommended at birth, are at risk of…”
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9
Interplay between epigenetic and genetic alterations in inborn errors of immunity
Published in Trends in immunology (01-11-2023)“…Human inborn errors of immunity (IEIs) comprise pathological conditions characterized by increased susceptibility to infections and immune dysregulation. Many…”
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10
Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome
Published in Blood (12-10-2023)“…•High vector copy number in individual colony-forming units correlated strongly with reconstitution of platelets and myeloid function.•Patients with poor…”
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11
Clinical Features in a Large Cohort of Patients With 22q11.2 Deletion Syndrome
Published in Pediatrics (Evanston) (01-12-2022)Get full text
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12
Diagnostic Modalities in Primary Immunodeficiency
Published in Clinical reviews in allergy & immunology (01-08-2022)“…As the field of inborn errors of immunity expands, providers continually update and fine-tune their diagnostic approach and selection of testing modalities to…”
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13
Pediatric autoimmune myelofibrosis: Experience from a large pediatric tertiary care center
Published in Pediatric blood & cancer (01-04-2023)“…Autoimmune myelofibrosis (AIMF) is a rare disorder characterized by cytopenias and autoimmunity, with characteristic bone marrow findings that include…”
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14
Prevention of Perinatal HIV Transmission in an Area of High HIV Prevalence in the United States
Published in Pediatrics (Evanston) (01-12-2021)Get full text
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15
Risk Factors for Severe Anaphylaxis in Children
Published in Pediatrics (Evanston) (01-12-2021)Get full text
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16
Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC
Published in Blood (18-08-2022)“…Adenosine deaminase (ADA) deficiency causes ∼13% of cases of severe combined immune deficiency (SCID). Treatments include enzyme replacement therapy (ERT),…”
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17
STAT3 gain-of-function syndrome
Published in Frontiers in pediatrics (09-02-2023)“…STAT3 gain-of-function (GOF) syndrome is a multi-organ primary immune regulatory disorder characterized by early onset autoimmunity. Patients present early in…”
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18
An ELF4 hypomorphic variant results in NK cell deficiency
Published in JCI insight (08-12-2022)“…NK cell deficiencies (NKD) are a type of primary immune deficiency in which the major immunologic abnormality affects NK cell number, maturity, or function…”
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A Toolkit and Framework for Optimal Laboratory Evaluation of Individuals with Suspected Primary Immunodeficiency
Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01-09-2021)“…Knowledge related to the biology of inborn errors of immunity and associated laboratory testing methods continues to expand at a tremendous rate. Despite this,…”
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Alterations in STAT Signaling Dysregulate CD8 T Cell Activation
Published in Journal of allergy and clinical immunology (01-02-2021)Get full text
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