[HTML][HTML] Iron metabolism and iron disorders revisited in the hepcidin era
C Camaschella, A Nai, L Silvestri - Haematologica, 2020 - ncbi.nlm.nih.gov
Iron is biologically essential, but also potentially toxic; as such it is tightly controlled at cell
and systemic levels to prevent both deficiency and overload. Iron regulatory proteins post …
and systemic levels to prevent both deficiency and overload. Iron regulatory proteins post …
The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation
Autoinflammatory diseases were first recognized nearly 20 years ago as distinct clinical and
immunological entities caused by dysregulation in the innate immune system. Since then …
immunological entities caused by dysregulation in the innate immune system. Since then …
Monogenic autoinflammatory disorders: conceptual overview, phenotype, and clinical approach
PA Nigrovic, PY Lee, HM Hoffman - Journal of Allergy and Clinical …, 2020 - Elsevier
Autoinflammatory diseases are conditions in which pathogenic inflammation arises primarily
through antigen-independent hyperactivation of immune pathways. First recognized just …
through antigen-independent hyperactivation of immune pathways. First recognized just …
Mitochondrial disease in children
S Rahman - Journal of internal medicine, 2020 - Wiley Online Library
Mitochondrial disease presenting in childhood is characterized by clinical, biochemical and
genetic complexity. Some children are affected by canonical syndromes, but the majority …
genetic complexity. Some children are affected by canonical syndromes, but the majority …
Common variable immunodeficiency: epidemiology, pathogenesis, clinical manifestations, diagnosis, classification, and management.
Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by
hypogammaglobulinemia and increased susceptibility to recurrent bacterial infections. It is …
hypogammaglobulinemia and increased susceptibility to recurrent bacterial infections. It is …
Practice parameter for the diagnosis and management of primary immunodeficiency
FA Bonilla, DA Khan, ZK Ballas, J Chinen… - Journal of Allergy and …, 2015 - Elsevier
The American Academy of Allergy, Asthma & Immunology (AAAAI) and the American
College of Allergy, Asthma & Immunology (ACAAI) have jointly accepted responsibility for …
College of Allergy, Asthma & Immunology (ACAAI) have jointly accepted responsibility for …
[HTML][HTML] Regulation of mRNA translation in neurons—a matter of life and death
M Kapur, CE Monaghan, SL Ackerman - Neuron, 2017 - cell.com
Dynamic regulation of mRNA translation initiation and elongation is essential for the survival
and function of neural cells. Global reductions in translation initiation resulting from …
and function of neural cells. Global reductions in translation initiation resulting from …
Molecular mechanisms in genetically defined autoinflammatory diseases: disorders of amplified danger signaling
AA de Jesus, SW Canna, Y Liu… - Annual review of …, 2015 - annualreviews.org
Patients with autoinflammatory diseases present with noninfectious fever flares and systemic
and/or disease-specific organ inflammation. Their excessive proinflammatory cytokine and …
and/or disease-specific organ inflammation. Their excessive proinflammatory cytokine and …
[HTML][HTML] Assessment of type I interferon signaling in pediatric inflammatory disease
GI Rice, I Melki, ML Frémond, TA Briggs… - Journal of clinical …, 2017 - Springer
Purpose Increased type I interferon is considered relevant to the pathology of a number of
monogenic and complex disorders spanning pediatric rheumatology, neurology, and …
monogenic and complex disorders spanning pediatric rheumatology, neurology, and …
Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases
I Aksentijevich, O Schnappauf - Nature Reviews Rheumatology, 2021 - nature.com
Monogenic autoinflammatory diseases are a group of rheumatologic disorders caused by
dysregulation in the innate immune system. The molecular mechanisms of these disorders …
dysregulation in the innate immune system. The molecular mechanisms of these disorders …