Results 61 to 70 of about 5,132 (186)

Hyperimmunoglobulin-D Syndrome in Children: A Review Article

Journal of Pediatrics Review, 2016
Hyperimmunoglobulin-D syndrome (HIDS) is a rare, autosomal recessively inherited autoinflammatory disease caused by mutations in the mevalonate kinase gene.
Masoud Golpour, Javad Ghaffari
doaj  

Recent Insights into the Pathogenesis of Type AA Amyloidosis

The Scientific World Journal, 2011
The amyloidoses are a group of life-threatening diseases in which fibrils made of misfolded proteins are deposited in organs and tissues. The fibrils are stable, insoluble aggregates of precursor proteins that have adopted an antiparallel β-sheet ...
J. C. H. van der Hilst
doaj   +1 more source

Inflammation, genetic background and longevity [PDF]

, 2010
Ageing is an inexorable intrinsic process that affects all cells, tissues, organs and individuals. Due to a diminished homeostasis and increased organism frailty, ageing causes a reduction of the response to environmental stimuli and, in general, is
A Panda, B Grubeck-Loebenstein, BR Troen, C Caruso, C Franceschi, C Franceschi, C Franceschi, C Franceschi, C Miyaji, C Wei, Calogero Caruso, CE Finch, CR Balistreri, D Di Bona, D Duin van, DP Harris, E Cevenini, F Licastro, F Listì, F Listì, F Martin, G Candore, G Candore, G Candore, G Candore, G Candore, G Colonna-Romano, G Colonna-Romano, G Colonna-Romano, G Di Lorenzo, G Pawelec, G Pawelec, G Pawelec, Giuseppina Candore, Giuseppina Colonna-Romano, HY Chung, I Sanz, J Oeppen, K Ogata, KF Kong, KL Gibson, KP High, M Capri, M Goto, M Jylhä, M la Fuente De, M Martinis De, MP Viveros, OT Chan, P Alonso-Fernández, P Sansoni, P Szabo, P Trzonkowski, R Ostan, R Vescovini, S Gupta, S Salvioli, S Vasto, S Vasto, S Vasto, S Vasto, SI Rattan, SJ Olshansky, Y Niwa, Y Shi, Y Shi   +65 more
core   +1 more source

A Patient With Concurrent Hidradenitis Suppurativa and Porokeratosis Palmaris et Plantaris Disseminata: Case Report and Review of Autoinflammatory Keratinization Diseases

Journal of Cutaneous Pathology, Volume 52, Issue 4, Page 272-277, April 2025.
ABSTRACT The term autoinflammatory keratinization diseases (AIKDs) was recently proposed as a unifying concept for diseases characterized by inflammation in the epidermis and upper dermis which leads to hyperkeratosis, caused by genetic perturbations of the innate immune system.
Meredith C. Rogers, Mark Ash, Amanda Hernandez, Gregory A. Hosler   +3 more
wiley   +1 more source

Glycoproteomic studies of IgE from a novel hyper IgE syndrome linked to PGM3 mutation [PDF]

, 2015
International audienceGlycans serve as important regulators of antibody activities and half-lives. IgE is the most heavily glycosylated antibody, but in comparison to other antibodies little is known about its glycan structure function relationships.
Barbouche, Mohamed-Ridha, Binet, Daniel, Dell, Anne, Haslam, Stuart M., Hitchen, Paul G., Morris, Howard R., North, Simon J., Panico, Maria, Wu, Gang   +8 more
core   +6 more sources

Updated genetic background of generalized pustular psoriasis as an autoinflammatory keratinization disease

The Journal of Dermatology, Volume 52, Issue 3, Page 400-407, March 2025.
Abstract Generalized pustular psoriasis (GPP) is a severe autoinflammatory keratinization disease (AiKD) characterized by acute flares of widespread sterile pustules and high fever. GPP is potentially life‐threatening. Recently clarified genetic predisposing factors for GPP suggest that the excessive activation of innate immune pathways in the skin ...
Masashi Akiyama
wiley   +1 more source

Effective interleukin-6 inhibition in a pediatric patient with mevalonate kinase deficiency and chronic nonbacterial osteomyelitis–like bone lesions under interleukin-1 blockade

The Turkish Journal of Pediatrics
Background. Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disease. Chronic nonbacterial osteomyelitis (CNO) represents another autoinflammatory disorder characterized by sterile bone inflammation.
Eray Tunce, Sıla Atamyıldız Uçar, Sevinç Taşar, Metin Eser, Betül Sözeri   +4 more
doaj   +1 more source

Genetic and epigenetic dysregulation of innate immune mechanisms in autoinflammatory diseases

The FEBS Journal, Volume 291, Issue 20, Page 4414-4432, October 2024.
Dysregulation and hyperactivation of innate immune responses can lead to the onset of systemic autoinflammatory diseases, caused by inborn genetic errors alone, or in combination with non‐genetic factors. Innate immune memory (trained immunity) is physiologically beneficial, but can become maladaptive, perpetuating chronic inflammatory activation. Here,
Laura M. Merlo Pich, Athanasios Ziogas, Mihai G. Netea   +2 more
wiley   +1 more source

Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype

Frontiers in Immunology
ObjectiveBi-allelic pathogenic variants in the MVK gene, which encodes mevalonate kinase (MK), an essential enzyme in isoprenoid biosynthesis, cause the autoinflammatory metabolic disorder mevalonate kinase deficiency (MKD).
Frouwkje A. Politiek, Frouwkje A. Politiek, Marjolein Turkenburg, Rob Ofman, Hans R. Waterham, Hans R. Waterham, Hans R. Waterham   +6 more
doaj   +1 more source

Síndromes Auto - Inflamatórias [PDF]

, 2010
As síndromes auto-inflamatórias são constituídas por um grupo heterogéneo de patologias isoladas e caracterizadas ao longo dos últimos 15 anos, graças aos avanços marcados no conhecimento do genoma humano e ao desenvolvimento de técnicas laboratoriais ...
Conde, M, Melo Gomes, JA, Melo Gomes, S
core