Results 41 to 50 of about 2,216 (148)

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  

Immunoglobulin class‐switch recombination: Mechanism, regulation, and related diseases

MedComm
Maturation of the secondary antibody repertoire requires class‐switch recombination (CSR), which switches IgM to other immunoglobulins (Igs), and somatic hypermutation, which promotes the production of high‐affinity antibodies.
Jia‐Chen Liu, Ke Zhang, Xu Zhang, Fei Guan, Hu Zeng, Masato Kubo, Pamela Lee, Fabio Candotti, Louisa Katherine James, Niels Olsen Saraiva Camara, Kamel Benlagha, Jia‐Hui Lei, Huamei Forsman, Lu Yang, Wei Xiao, Zheng Liu, Chao‐Hong Liu   +16 more
doaj   +1 more source

AUTOINFLAMMATORY DISEASES IN RHEUMATOLOGY: RUSSIAN EXPERIENCE

Научно-практическая ревматология, 2016
Autoinflammatory diseases (AIDs) are characterized by periodic, sometimes self-limiting attacks that appear as fever and clinical symptoms resembling rheumatic ones, in the absence of autoimmune or infectious diseases.
S. O. Salugina, E. S. Fedorov, N. N. Kuzmina, E. A. Kamenets, E. Yu. Zakharova   +4 more
doaj   +1 more source

Review of Biological Agents in the Therapeutic Management of Monogenic Genodermatoses

Dermatologic Therapy, Volume 2026, Issue 1, 2026.
Monogenic genodermatoses encompass a diverse group of over 400 distinct disorders, presenting significant therapeutic challenges. Recent advancements in the clinical application of biological agents have heralded a new era in the management of these conditions.
Xueying Wang, Qing Zhao, Hong Liu, Furen Zhang, Zhiqiang Song   +4 more
wiley   +1 more source

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

Cytokine Signatures Outperform Immune Subsets in Machine Learning Models for Predicting Acute Graft‐Versus‐Host Disease at Neutrophil Engraftment

Journal of Immunology Research, Volume 2026, Issue 1, 2026.
Background Acute graft‐versus‐host disease (aGvHD) is a major immune complication of allogeneic hematopoietic stem cell transplantation (Allo‐HSCT), driven by complex immune‐cytokine interactions. This study employed machine learning (ML) algorithms to develop early predictive models for aGvHD using immune and cytokine profiles of Allo‐HSCT recipients ...
Mohini Mendiratta, Praful Pandey, Shobhit Pandey, Sandeep Rai, Meenakshi Mendiratta, Hridayesh Prakash, Shuvadeep Ganguly, Archana Sasi, Ritu Gupta, Prabhat Singh Malik, Raja Pramanik, Sachin Kumar, Baibaswata Nayak, Riyaz Ahmed Mir, Sameer Bakhshi, Deepam Pushpam, Mukul Aggarwal, Aditya Kumar Gupta, Rishi Dhawan, Tulika Seth, Manoranjan Mahapatra, Ranjit Kumar Sahoo, Poorani Gurumallesh Prabu   +22 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

Multi‐omic analysis identifies biological processes underlying progressive interstitial lung disease in systemic sclerosis

The FEBS Journal, Volume 292, Issue 22, Page 6054-6074, November 2025.
Systemic sclerosis (SSc) is a rare autoimmune disease, and lung complications (ILD) are the main cause of death. This study compared SSc patients with and without lung disease to healthy volunteers. We found increased inflammation, specific proteins, and higher triglyceride levels linked to lung disease progression. These findings suggest triglycerides
Selena Bouffette, Perrine Soret, Alice Cole, Emmanuel Nony, Pierre Barbier Saint Hilaire, Grégory Leclerc, Lamine Alaoui, Audrey Aussy, Isabelle Wehrle, Aude Le Gall, Mark Coulon, Marc Pallardy, Voon Ong, Jeanne Allinne, Philippe Moingeon, David Abraham, Christopher P. Denton   +16 more
wiley   +1 more source

Human γδ T Cell Function Is Impaired Upon Mevalonate Pathway Inhibition

Immunology, Volume 175, Issue 3, Page 300-322, July 2025.
Mevalonate pathway is important for the effector function of gammadelta T cells. Inhibition of the pathway in vivo and in vitro impairs cytokine and cytotoxic molecule production by mainly affecting protein prenylation and disturbing intracellular signalling in Vdelta2 T cells. Created with Biorender.
Tsz Kin Suen, Burcu Al, Thomas Ulas, Nico Reusch, Harsh Bahrar, Siroon Bekkering, Jaydeep Bhat, Dieter Kabelitz, Joachim L. Schultze, Frank L. van de Veerdonk, Jeanine Roeters van Lennep, Niels P. Riksen, Leo A. B. Joosten, Mihai G. Netea, Katarzyna Placek   +14 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