Inborn errors of metabolism

CR Ferreira, CDM van Karnebeek - Handbook of clinical neurology, 2019 - Elsevier
Inborn errors of metabolism, also known as inherited metabolic diseases, constitute an
important group of conditions presenting with neurologic signs in newborns. They are …

An update on autoinflammatory diseases: inflammasomopathies

CR Harapas, A Steiner, S Davidson… - Current Rheumatology …, 2018 - Springer
Abstract Purpose of Review Autoinflammatory diseases are driven by abnormal innate
immune activation. In the case of inflammasomopathies, these are all attributable to …

[HTML][HTML] Deficiency and absence of endogenous isoprene in adults, disqualified its putative origin

P Sukul, A Richter, JK Schubert, W Miekisch - Heliyon, 2021 - cell.com
Abstract Background Isoprene (C 5 H 8) is a clinically important breath metabolite. Although,
hundreds of studies have reported differential expressions in isoprene exhalation as breath …

[HTML][HTML] Dermatologic and dermatopathologic features of monogenic autoinflammatory diseases

I Figueras-Nart, JM Mascaró Jr, X Solanich… - Frontiers in …, 2019 - frontiersin.org
Autoinflammatory diseases include disorders with a monogenic cause and also complex
conditions associated to polygenic or multifactorial factors. An increased number of both …

Lymphadenopathy at the crossroad between immunodeficiency and autoinflammation: An intriguing challenge

G Costagliola, R Consolini - Clinical & Experimental …, 2021 - academic.oup.com
Lymphadenopathies can be part of the clinical spectrum of several primary
immunodeficiencies, including diseases with immune dysregulation and autoinflammatory …

Systematic literature review of efficacy/effectiveness and safety of current therapies for the treatment of cryopyrin-associated periodic syndrome, hyperimmunoglobulin …

JB Kuemmerle-Deschner, R Gautam, AT George… - RMD open, 2020 - rmdopen.bmj.com
Objectives Several therapies are used for the treatment of rareautoinflammatory conditions
like cryopyrin-associated periodic fever syndromes (CAPS), hyperimmunoglobulin …

[HTML][HTML] Kidney involvement in autoinflammatory diseases

C Zhang, J Peng, Z Liu, Q Zhou - Kidney Diseases, 2023 - karger.com
Background: Autoinflammatory diseases (AIDs) were first proposed 20 years ago and
caused by dysregulation of the innate immune system, leading to episodes of systemic …

[HTML][HTML] Mevalonate kinase-associated diseases: hunting for phenotype–genotype correlation

G Boursier, C Rittore, F Milhavet, L Cuisset… - Journal of Clinical …, 2021 - mdpi.com
Mevalonate kinase-associated diseases (MKAD) are caused by pathogenic mutations in the
mevalonate kinase gene (MVK) and encompass several phenotypically different rare and …

Geoepidemiology and immunologic features of autoinflammatory diseases: a comprehensive review

Y Jamilloux, A Belot, F Magnotti, S Benezech… - Clinical Reviews in …, 2018 - Springer
The knowledge on systemic autoinflammatory disorders (SAID) is expanding rapidly and
new signalling pathways are being decrypted. The concept of autoinflammation has been …

Neurological manifestations in mevalonate kinase deficiency: A systematic review

I Elhani, V Hentgen, G Grateau… - Molecular Genetics and …, 2022 - Elsevier
Introduction Mevalonate kinase deficiency (MKD) is a monogenic auto-inflammatory
disease. Its manifestations range from partial MKD to mevalonic aciduria (MVA). All patients …