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Genetic susceptibility to EBV infection: insights from inborn errors of immunity
Epstein–Barr virus (EBV) is a ubiquitous human pathogen, infecting > 90% of the adult population. In the vast majority of healthy individuals,...
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Human Genetics and Infectious Disease
Infectious disease has profound impact on the human genome. DNA sequence variation present in human genome affects susceptibility to infectious... -
Retrospective, Landmark Analysis of Long-term Adult Morbidity Following Allogeneic HSCT for Inborn Errors of Immunity in Infancy and Childhood
PurposeAllogeneic hematopoietic stem cell transplant (HSCT) remains the treatment of choice for patients with inborn errors of immunity (IEI). There...
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Beyond IBD: the genetics of other early-onset diarrhoeal disorders
Diarrhoeal disorders in childhood extend beyond the inflammatory bowel diseases. Persistent and severe forms of diarrhoea can occur from birth and...
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Transcriptional regulation of Tfh dynamics and the formation of immunological synapses
Inside germinal centers (GCs), antigen-specific B cells rely on precise interactions with immune cells and strategic localization between the dark...
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Quality of Life and Social and Psychological Outcomes in Adulthood Following Allogeneic HSCT in Childhood for Inborn Errors of Immunity
BackgroundHematopoietic stem cell transplant (HSCT) is well established as a corrective treatment for many inborn errors of immunity (IEIs)...
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The Autoimmune Manifestations in Patients with Genetic Defects in the B Cell Development and Differentiation Stages
PurposePrimary B cell defects manifesting as predominantly antibody deficiencies result from variable inborn errors of the B cell lineage and their...
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Genetic Mosaicism as a Cause of Inborn Errors of Immunity
Inborn errors of immunity (IEIs) are a heterogeneous group of disorders due to genetic defects in the immune response that have a broad clinical...
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Hematopoietic Cell Transplantation for Inborn Errors of Immunity Other than Severe Combined Immunodeficiency in Japan: Retrospective Analysis for 1985–2016
PurposeHematopoietic cell transplantation (HCT) is a curative therapy for most patients with inborn errors of immunity (IEI). We conducted a...
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NK cell recognition of hematopoietic cells by SLAM-SAP families
The signaling lymphocyte activation molecule (SLAM) family of receptors (SFRs) are ubiquitously expressed on immune cells, and they regulate multiple...
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Cytokine storm and targeted therapy in hemophagocytic lymphohistiocytosis
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening systemic hyperinflammatory syndrome. The central pathogenesis is an explosive cytokine...
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Common Variable Immunodeficiency-Like Disorders
In contrast to their name, common variable immunodeficiency (CVID) disorders are rare primary immune deficiencies (PIDs). Patients with CVID... -
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Genetics of Primary Hemophagocytic Lymphohistiocytosis
In this chapter we describe the genes responsible for familial or primary hemophagocytic lymphohistiocytosis, and the clinical and laboratory... -
The genetics of macrophage activation syndrome
Macrophage activation syndrome (MAS), or secondary hemophagocytic lymphohistiocytosis (HLH), is a cytokine storm syndrome associated with multi-organ...
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Hepatitis A and Other Viral Infections
Viral-mediated liver injury can result from infections with the classic hepatotropic viruses, hepatitis A through E, or by other viruses. In the... -
Novel mutations of STXBP2 and LYST associated with adult haemophagocytic lymphohistiocytosis with Epstein-Barr virus infection: a case report
BackgroundHaemophagocytic lymphohistiocytosis is a life-threatening disease resulting from primary or secondary hyper-inflammatory disorders. The...
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Cytokine Storm Syndromes Associated with Epstein–Barr Virus
Epstein–Barr Virus (EBV) is a ubiquitous and predominantly B cell tropic virus. EBV, one of the most common viruses to infect humans, is best known...