[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 …

The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation

K Manthiram, Q Zhou, I Aksentijevich, DL Kastner - Nature immunology, 2017 - nature.com
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 …

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 …

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 …

Common variable immunodeficiency: epidemiology, pathogenesis, clinical manifestations, diagnosis, classification, and management.

R Yazdani, S Habibi, L Sharifi, G Azizi… - … allergology & clinical …, 2019 - europepmc.org
Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by
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 …

[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 …

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 …

[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 …

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 …