Results 11 to 20 of about 2,216 (148)
Hyper-IgD syndrome and hereditary periodic fever syndromes
Reumatismo, 2004 Hereditary periodic fever syndromes are a group of systemic disorders characterized by recurrent attacks of systemic inflammation (autoinflammation) without infectious or autoimmune cause.
R. Scolozzi, A. Boccafogli, L. Vicentini
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Hyper IGD syndrome: A case report
Pediatric Hematology Oncology Journal, 2016 Mohammed Naseer +13 more
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Anti-interleukin 6 receptor therapy for hyper-IgD syndrome. [PDF]
BMJ Case Rep, 2015 Hyper-IgD syndrome (HIDS) is a rare, severe hereditary autoinflammatory disease characterised by periodic fevers, elevated serum IgD levels and a wide range of symptoms. Although a few randomised controlled trials have been performed in this disorder, there are no straightforward treatment protocols and none of the potential therapies are registered ...
Musters A, Tak PP, Baeten DL, Tas SW.
europepmc +4 more sources
DMW - Deutsche Medizinische Wochenschrift, 2008 Contains fulltext : 23622___.PDF (Publisher’s version ) (Open Access)
Drenth, J.P.H. +3 more
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A novel case of autosomal recessive CARD11 loss-of-function underlying impaired antiviral immunity and a review of literature. [PDF]
Clin Transl ImmunologyWe report on a patient homozygous for a novel autosomal recessive loss‐of‐function CARD11 variant, with susceptibility to live attenuated virus (LAV) vaccines and impaired clearance of multiple naturally acquired respiratory viral infections. Inborn errors of immunity affecting the CARD11‐BCL10‐MALT1 (CBM) complex should be considered in individuals ...
Anderson H +12 more
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The challenge of autoinflammatory syndromes: with an emphasis on hyper-IgD syndrome [PDF]
Rheumatology, 2016 Autoinflammatory syndromes are disorders with an exaggerated inflammatory response, mostly in the absence of an appropriate trigger. Prototypic autoinflammatory syndromes are FMF, hyper-IgD syndrome (also known as mevalonate kinase deficiency), TNF receptor-associated periodic syndrome and cryopyrin-associated periodic syndrome. The clinical phenotypes
Meer, J.W.M. van der, Simon, A.
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Compromised Protein Prenylation as Pathogenic Mechanism in Mevalonate Kinase Deficiency
Frontiers in Immunology, 2021 Mevalonate kinase deficiency (MKD) is an autoinflammatory metabolic disorder characterized by life-long recurring episodes of fever and inflammation, often without clear cause. MKD is caused by bi-allelic pathogenic variants in the MVK gene, resulting in
Frouwkje A. Politiek, Hans R. Waterham
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Inflammasomes and dermatology [PDF]
Anais Brasileiros de Dermatologia, 2016 : Inflammasomes are intracellular multiprotein complexes that comprise part of the innate immune response. Since their definition, inflammasome disorders have been linked to an increasing number of diseases.
Daniel Coelho de Sá, Cyro Festa Neto
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Frontiers in Immunology, 2021 Autoinflammatory diseases (AIDs) represent a rare and heterogeneous group of disorders characterized by recurrent episodes of inflammation and a broad range of clinical manifestations.
Hana Malcova +8 more
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A Framework for Ethical and Clinical Governance Evaluation of Innovative Medicines in Children: A Mixed Methods Study. [PDF]
J Paediatr Child HealthABSTRACT Aim The aim of this project was to develop and implement a working definition and ethical framework for use of innovative medicine in contemporary Australian paediatric practice. Methods A mixed methods research methodology was undertaken using a Delphi process to establish a definition of innovative medicines in paediatric patients.
Stacey S +5 more
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