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Functional validation of a novel STAT3 'variant of unknown significance' identifies a new case of STAT3 GOF Syndrome and reveals broad immune cell defects.
Clin Exp Immunol
January 2025
Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
Introduction: STAT3 orchestrates crucial immune responses through its pleiotropic functions as a transcription factor. Patients with germline monoallelic dominant negative or hypermorphic STAT3 variants, who present with immunodeficiency and/or immune dysregulation, have revealed the importance of balanced STAT3 signaling in lymphocyte differentiation and function, and immune homeostasis. Here, we report a novel missense variant of unknown significance in the DNA binding domain of STAT3 in a patient who experienced hypogammaglobulinemia, lymphadenopathy, hepatosplenomegaly, immune thrombocytopenia, eczema and enteropathy over a 35-year period.
View Article and Find Full Text PDFProlonged Severe CD4+ Lymphocytopenia and Hypogammaglobulinemia in Patients With Evans' Syndrome: A Case Report.
Cureus
December 2024
Department of Hematology and Oncology, Toyohashi Municipal Hospital, Toyohashi, JPN.
Primary immunodeficiency (PID) is one of the causes of secondary autoimmune hemolytic anemia (AIHA) and Evans' syndrome (ES). Serum immunoglobulins should be tested in patients with AIHA/ES, as common variable immunodeficiency is the most common PID of secondary AIHA/ES. However, it is not fully understood how immunodeficiency is assessed, in addition to serum immunoglobulins.
View Article and Find Full Text PDFDiversity in the Clinical Course and Outcome of COVID-19 in Patients with Different Inborn Errors of Immunity can be Associated with the Type of Error.
Adv Biomed Res
November 2024
Department of Immunology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Background: The relationship between inborn errors of immunity (IEIs) and COVID-19 severity and incidence rates remains unclear due to limited and diverse data. This study aimed to address this gap by identifying specific IEIs associated with an increased risk of severe COVID-19 or a predisposition to severe disease before vaccination.
Materials And Methods: Data were collected from the medical records of 15 patients with various IEIs, supplemented by interviews with individuals from an IEIs registry who had experienced COVID-19 before vaccination.
Late complications and long-term care of adult CAR T-cell patients.
Hematology Am Soc Hematol Educ Program
December 2024
The David and Etta Jonas Center for Cellular Therapy, Section of Hematology/Oncology, Department of Medicine, University of Chicago, Chicago, IL.
Article Synopsis
- * Late complications include issues like cytopenias, infections, secondary cancers, and delayed neurotoxicities, often requiring careful monitoring and supportive treatments.
- * It is crucial for healthcare providers to work together to manage these late effects, ensuring patients receive proper follow-up care to improve their quality of life and outcomes post-treatment.
COVID-19 progression and convalescence in common variable immunodeficiency patients show dysregulated adaptive immune responses and persistent type I interferon and inflammasome activation.
Nat Commun
November 2024
Epigenetics and Immune Disease Group, Josep Carreras Research Institute (IJC), 08916 Badalona, Barcelona, Spain.
Common variable immunodeficiency (CVID) is the most prevalent primary immunodeficiency, marked by hypogammaglobulinemia, poor antibody responses, and increased infection susceptibility. The COVID-19 pandemic provided a unique opportunity to study the effects of prolonged viral infections on the immune responses of CVID patients. Here we use single-cell RNA-seq and spectral flow cytometry of peripheral blood samples before, during, and after SARS-CoV-2 infection showing that COVID-19 CVID patients display a persistent type I interferon signature at convalescence across immune compartments.
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