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Inborn Errors of Immunity and Cancer [PDF]
Inborn Errors of Immunity (IEI) are a heterogeneous group of disorders characterized by a defect in the function of at least one, and often more, components of the immune system.
Alessandra Tiri+7 more
doaj +7 more sources
Neuroinflammation Associated With Inborn Errors of Immunity [PDF]
The advent of high-throughput sequencing has facilitated genotype-phenotype correlations in congenital diseases. This has provided molecular diagnosis and benefited patient management but has also revealed substantial phenotypic heterogeneity.
Hannes Lindahl+4 more
doaj +8 more sources
Dendritic cells in inborn errors of immunity [PDF]
Dendritic cells (DCs) are crucial cells for initiating and maintaining immune response. They play critical role in homeostasis, inflammation, and autoimmunity.
Sudhir Gupta, Anshu Agrawal
doaj +6 more sources
Granulomatous inflammation in inborn errors of immunity [PDF]
Granulomas have been defined as inflammatory infiltrates formed by recruitment of macrophages and T cells. The three-dimensional spherical structure typically consists of a central core of tissue resident macrophages which may merge into multinucleated ...
Keith A. Sacco+3 more
doaj +5 more sources
Inborn errors of immunity (primary immunodeficiencies). [PDF]
Primary immunodeficiencies (PID), now often referred to as inborn errors of immunity (IEI), are a large heterogeneous group of disorders that result from deficiencies in immune system development and/or function.
Kim VHD+4 more
europepmc +3 more sources
Nature and nurture: understanding phenotypic variation in inborn errors of immunity [PDF]
The overall disease burden of pediatric infection is high, with widely varying clinical outcomes including death. Among the most vulnerable children, those with inborn errors of immunity, reduced penetrance and variable expressivity are common but poorly
Morgan Similuk, Taco Kuijpers
doaj +3 more sources
Human inborn errors of immunity associated with IRF4 [PDF]
The transcription factor interferon regulatory factor 4 (IRF4) belongs to the IRF family and has several important functions for the adaptive immune response.
Romane Thouenon+3 more
doaj +3 more sources
EBMT/ESID inborn errors working party guidelines for hematopoietic stem cell transplantation for inborn errors of immunity [PDF]
Transplantation and ...
Albert, M.H.+14 more
core +4 more sources
Inborn errors of immunity to infection: the rule rather than the exception [PDF]
The immune system's function is to protect against microorganisms, but infection is nonetheless the most frequent cause of death in human history. Until the last century, life expectancy was only ∼25 years.
Abel, Laurent, Casanova, Jean-Laurent
core +3 more sources
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. [PDF]
Clinical outcome upon infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ranges from silent infection to lethal coronavirus disease 2019 (COVID-19).
Abel, Laurent+145 more
core +10 more sources