Results 51 to 60 of about 2,294 (167)

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

The RNA Binding Protein Bcas2 is Required for Antibody Class Switch in Activated‐B Cells

Exploration, Volume 5, Issue 3, June 2025.
Bcas2 recruits DHX15 and SRSF7 to form a protein complex for the splicing of CSR‐related mRNA at the 5' ss and 3' ss, generating two mature mRNA isoforms, which are ultimately translated into CSR‐related proteins. These CSR‐related proteins bind to DNA associated with antibodies, affecting the DSB repair of the relevant DNA after AID induction, thereby
Yu Chen, Siyuan Sun, Chenxu Lu, Yixuan Li, Bing Fang, Xiangfeng Tang, Xuepeng Li, Weiru Yu, Yumei Lei, Longjie Sun, Ming Zhang, Jiazeng Sun, Ping Liu, Yongting Luo, Xingwang Zhao, Jing Zhan, Libing Liu, Rong Liu, Jiaqiang Huang, Ziwei Yi, Yifei Yu, Weihan Xiao, Zheng Ding, Lei Li, Dan Su, Fazheng Ren, Changchang Cao, Ran Wang, Wenbiao Shi, Juan Chen   +29 more
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

Longitudinal monitoring of class‐switched memory‐B cell proportions identifies plausible germinal center failure in patients with suspected immune disorders

Cytometry Part B: Clinical Cytometry, Volume 108, Issue 3, Page 222-233, May 2025.
Abstract A reduced proportion of peripheral class‐switched memory B cells (CSM‐B cells) is presumed to indicate ineffective germinal activity. The extent that this finding corresponds to a plausible germinal center failure pathophysiology in patients not diagnosed with CVID or hyper IgM syndrome is not known.
Vijaya Knight, Olivia Starich, Cullen M. Dutmer, Jordan K. Abbott   +3 more
wiley   +1 more source

Structure, substrate recognition and reactivity of Leishmania major mevalonate kinase [PDF]

, 2007
This research was supported by the German Academic Exchange Service (DAAD), the Wellcome Trust (TKS and WNH as Trust Senior Research fellows), the Biotechnology and Biological Science Research Council (Structural Proteomics of Rational Targets) and the ...
Tanja Sgraja, Smith, Terry K, Terry K Smith, Sgraja, Tanja, Hunter, William N., William N Hunter, Hunter, William N   +6 more
core   +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

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

Hyperimmunoglobulinemia D and periodic fever syndrome : the clinical spectrum in a series of 50 patients : the International Hyper-IgD Study Group [PDF]

, 1994
Contains fulltext : 4781.pdf (Publisher’s version ) (Open Access)The International Hyper-IgD Study ...
Haagsma, C.J., Drenth, J.P.H., Meer, J.W.M. van der   +2 more
core  

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +2 more sources