Results 51 to 60 of about 27,174 (202)

C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib

, 2023
C-terminal variants in CDC42 encoding cell division control protein 42 homolog underlie neonatal-onset cytopenia, autoinflammation, rash, and hemophagocytic lymphohistiocytosis (NOCARH).
Meino Rohlfs, Lucas, Nadja, Peters, Anke, Stephan Ehl, Bertrand Isidor, Zillinger, Thomas, Brigitte Strahm, Conrad, Solène, Klein, Christoph, Speckmann, Carsten, Schmitt-Graeff, Annette, Beckmann, Cora C.A., Sylvaine Poignant, Schubert, Mario, Shovamayee Maharana, Bahram, Seiamak, Min Ae Lee-Kirsch, Guan, Kaomei, Poignant, Sylvaine, Kaomei Guan, Kapp, Friedrich G., Günther, Claudia, Carsten Speckmann, Beckmann, Cora C. A., Charlotte M. Niemeyer, Solène Conrad, Wäsch, Lena, Mario Schubert, Kisaarslan, AYŞENUR, Rohlfs, Meino, Anne Molitor, Niemeyer, Charlotte M, Kretschmer, Stefanie, Anke Peters, Kisaarslan, Ayşenur Paç, Ayşenur Paç Kisaarslan, Lee-Kirsch, Min Ae, Hauck, Fabian, Ehl, Stephan, Ayami Yoshimi, Carapito, Raphaël, Friedrich G. Kapp, Stefanie Kretschmer, Martin Zenker, Driever, Wolfgang, Christoph Klein, Seiamak Bahram, Isidor, Bertrand, Denny Schanze, Claudia Günther, Cora C.A. Beckmann, Ekrem Unal, Molitor, Anne, Raphaël Carapito, Nadja Lucas, Thomas Zillinger, Strahm, Brigitte, Niemeyer, Charlotte M., Kapp, Friedrich G, Unal, Ekrem, Lena Wäsch, Yoshimi, Ayami, Schanze, Denny, Zenker, Martin, Fabian Hauck, Maharana, Shovamayee, Annette Schmitt-Graeff, Wolfgang Driever   +67 more
core   +1 more source

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease

Clinical Genetics, EarlyView.
Whole‐exome sequencing of 111 patients with suspected familial cerebral small vessel disease (CSVD) identified novel copy number variants in four patients across NOTCH3, LMNB1, and COL4A2, using bioinformatic and molecular techniques. These validated CNVs suggest structural variation is an underrecognized potential causal contributor to monogenic CSVD ...
Solomon K. Guyler, Neven Maksemous, Rodney A. Lea, Robert A. Smith, Heidi G. Sutherland, Lyn R. Griffiths   +5 more
wiley   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

ENaC-mediated sodium influx exacerbates NLRP3-dependent inflammation in cystic fibrosis

eLife, 2019
Cystic Fibrosis (CF) is a monogenic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, resulting in defective CFTR-mediated chloride and bicarbonate transport, with dysregulation of epithelial sodium ...
Thomas Scambler, Heledd H Jarosz-Griffiths, Samuel Lara-Reyna, Shelly Pathak, Chi Wong, Jonathan Holbrook, Fabio Martinon, Sinisa Savic, Daniel Peckham, Michael F McDermott   +9 more
doaj   +1 more source

Cutaneous involvement by myeloid leukaemias: challenging cases with important implications

Histopathology, EarlyView.
Myeloid leukaemias and precursors involving the skin are often challenging to diagnose with varied and overlapping clinical and histopathologic features. Nonetheless, they are critical for pathologists to recognize and accurately classify. This review discusses the clinical, histopathological and genetic features of myelodysplasia cutis (A) and ...
Alexandra C. Hristov
wiley   +1 more source

The Conundrum of Psoriatic Arthritis: a Pathogenetic and Clinical Pattern at the Midpoint of Autoinflammation and Autoimmunity

, 2022
Psoriatic arthritis (PsA) is a chronic inflammatory condition characterized by psoriasis, synovitis, enthesitis, spondylitis, and the possible association with other extra-articular manifestations and comorbidities.
Carriero, Antonio, Ennio Lubrano, Perrotta, Fabio Massimo, Vecellio, Matteo, Rossana Scrivo, Matteo Vecellio, Salvatore D’Angelo, Castellani, Chiara, Lubrano, Ennio, Fabio Massimo Perrotta, Conti, Fabrizio, Selmi, Carlo, Chiara Castellani, Fabrizio Conti, Antonio Carriero, D'Angelo, Salvatore, Carlo Selmi, Scrivo, Rossana   +17 more
core   +1 more source

Autoinflammatory Recurrent Pericarditis Associated with a New NLRP12 Mutation in a Male Adolescent

Life, 2023
Idiopathic recurrent pericarditis (IRP) can be the hallmark of an autoinflammatory syndrome with recurrent attacks of chest pain and symptom-free intervals following an acute episode. The recurrence rate may be 35% in the pediatric population, frequently
Eliza Cinteza, Dan Stefan, Mihaela Adela Iancu, Andreea Ioan, Corina Maria Vasile, Radu Vatasescu, Alexis Cochino   +6 more
doaj   +1 more source

Emerging Roles of PSTPIP2 in Autoimmunity: From Mechanism to Therapeutic Implications

Immunology, EarlyView.
PSTPIP2 acts as a key brake on myeloid inflammation by suppressing IL‐1β‐driven signalling, macrophage dysregulation and inflammation‐associated bone remodelling. Its emerging roles in CRMO/CMO, rheumatoid arthritis, SAPHO syndrome and bullous pemphigoid support its potential as a biomarker and therapeutic target.
Erdong Zhang, Fengyu Liu, Yongle Wei, Guoqiang Li, Liujie Zheng, Lin Jin, Feng Luan, Yingze Zhang, Ling Wang, Zhiyong Hou   +9 more
wiley   +1 more source

Nlrp3 inflammasome activation in macrophages suffices for inducing autoinflammation in mice

, 2022
: Cryopyrin-associated periodic syndromes (CAPS) are a spectrum of autoinflammatory disorders caused by gain-of-function NLRP3 mutant proteins that form hyperactive inflammasomes leading to overproduction of the pro-inflammatory cytokines IL-1 beta and ...
Silvia Ribo, Frising, Ulrika C., Frising, Ulrika, Bernard Malissen, Ribo, Silvia, Wullaert, Andy, Malissen, Bernard, van Loo, Geert, Ribó Gené, Silvia, Ulrika C Frising, Doglio, Maria Giulia, Doglio, M Giulia, Doglio, M. Giulia, M Giulia Doglio, Andy Wullaert, Geert van Loo   +15 more
core   +1 more source

A Rare RIPK3 Variant Enhances Necroptosis and Promotes Inflammation in a Still Disease–Like Autoinflammatory Syndrome

Arthritis &Rheumatology, Volume 78, Issue 10, Page 2149-2159, October 2026.
Objective Still disease represents a prototypical polygenic systemic autoinflammatory disease, characterized by recurrent systemic inflammation and dysregulation of innate immunity. Despite extensive clinical characterization, familial clustering Still disease remains unreported.
Longfang Chen, Qihua Dai, Yu Xiao, Jialin Dai, Mengyan Wang, Yuning Ma, Yujie Shen, Zhimo Xu, Jianfen Meng, Xia Chen, Da Yi, Yue Sun, Hui Shi, Honglei Liu, Xiaobing Cheng, Yutong Su, Junna Ye, Huihui Chi, Zhuochao Zhou, Tingting Liu, Jialin Teng, Chengde Yang, Jinchao Jia, Qiongyi Hu   +23 more
wiley   +1 more source