Results 101 to 110 of about 10,179 (209)

Phenotype variability of autoinflammatory disorders in the pediatric patient: a pictorial overview

, 2020
Disruption of innate immunity leading to systemic inflammation and multi-organ dysfunction is the basilar footprint of autoinflammatory disorders (AIDs), ranging from rare hereditary monogenic diseases to a large number of common chronic inflammatory ...
Rigante D, Donato Rigante
core   +1 more source

Progress Research in the Immune-Actinopathies and Pathogenic Genes

罕见病研究
Immuno-actinopathies are hereditary diseases characterized by immunodeficiency and immune dysregulation due to the mutations in single genes which are regulating actin remodeling. Mutations in actin-related regulatory genes can lead to functional defects
MA Shiyun, ZHOU Lina, AN Yunfei, ZHAO Xiaodong   +3 more
doaj   +1 more source

Dual Covalent Targeting of STING Cysteines 292/309 Disrupts Functional Oligomerization and Enables Potent Antagonist Development

Advanced Science, Volume 13, Issue 32, 9 June 2026.
We report a rational design strategy for STING antagonists by dual covalent targeting of Cys292/309 in its C‐terminal domain, directly preventing functional oligomerization. Through covalent warhead repurposing, we identified P005091 and revealed its unique dual‐cysteine mechanism.
Yuxuan Zhao, Ling Huang, Wenjing Qin, Bin Zhang, Yang Yang, Xue Chen, Xiaoquan Wang, Weilin Zhou, Feiyang Chen, Zhenyu Li, Liyuan Le, Yiqiu Zhang, Zhen Xiang, Lu Zhang, Fei Wang, Dan Lei, Zi‐zhe Cai, Ying Gao, Yong Chen, Xuecen Wang, Junmin Quan, Shuixing Zhang, Xianzhang Bu, Xin Yue   +23 more
wiley   +1 more source

Autoinflammatory disorders in Children

, 2016
Autoinflammatory diseases arise when the control of innate inflammatory responses fails. These disorders are characterized by seemingly unprovoked or disproportionate inflammation, insufficiently explained by infection or autoimmunity.
Frenkel, J, Legger, G. Elizabeth
core  

A Cooperative Release of Mitochondrial DNA From Platelets and Neutrophils Drives an Interferon Signature in Systemic Sclerosis

Arthritis &Rheumatology, Volume 78, Issue 6, Page 1281-1293, June 2026.
Objective Mitochondria are organelles with a hypomethylated circular genome. Mitochondrial DNA (mtDNA) in the systemic circulation has been implicated in inflammation. This study investigates the role of circulating DNA in systemic sclerosis (SSc) and the cellular mechanisms governing its release.
Stavros Giaglis, André N. Tiaden, Simone Häner‐Massimi, Diego Kyburz, Cedric André, Anton Glück, Enrico Ferrero, Stuart Hawtin, Tobias Junt, Ulrich A. Walker   +9 more
wiley   +1 more source

OGFRL1 Deficiency Causes Chronic Recurrent Multifocal Osteomyelitis Via Pathologic Osteoclastogenesis, With Therapeutic Response to Tumor Necrosis Factor Inhibitor

Arthritis &Rheumatology, Volume 78, Issue 6, Page 1318-1326, June 2026.
Objective To verify the pathogenesis of the opioid growth factor receptor like‐1 (OGFRL1) loss‐of‐function variant (c.30del, p. F10Ffs*110) identified in a patient with chronic recurrent multifocal osteomyelitis (CRMO) and to investigate the underlying mechanism.
Wen Xiong, Yusha Wang, Tingyan He, Jinjian Fu, Ying Luo, Jinbo Wang, Jun Wang, Xiaomin Yu, Qing Zhou, Jun Yang   +9 more
wiley   +1 more source

Guidelines for the genetic diagnosis of hereditary recurrent fevers

, 2012
Hereditary recurrent fevers (HRFs) are a group of monogenic autoinflammatory diseases characterised by recurrent bouts of fever and serosal inflammation that are caused by pathogenic variants in genes important for the regulation of innate immunity ...
Aksentijevich, Ivona, Austrup, F., Kania, Urszula, Morris, Michael, Witsch-Baumgartner, M, Phylactou, Leonidas, Lezer, S., Austrup, F, Ozen, Seza, Touitou, I, Costa, J M, Rowczenio, Dorota, Lezer, S, De Leener, Anne, Sarkisian, T, Risom, Lotte, Touitou, Isabelle, Ceccherini, Isabella, Bennetts, Bruce, Costa, Jean Marc, Shinar, Y, Risom, L, Obici, Laura, Kone-Paut, I, Bennetts, B, Phylactou, L, Nishikomori, Ryuta, Aksentijevich, I, Kania, U, Gattorno, M, Gattorno, Marco, Sarkisian, Tamara, Van Gijn, Mariëlle M.E., Nishikomori, R, Hoffman, Hal H.M., Ceccherini, I, Livneh, A, Shinar, Yael, Moix, I, Morris, M, Rowczenio, D, Moix, Isabelle, De Leener, A, Obici, L, Livneh, Avi V I A., Kone-Paut, Isabelle, van Gijn, M E, Witsch-Baumgartner, Martina, Hoffman, H M   +48 more
core   +1 more source

Psoriasis, Atopic Dermatitis, Acne, Inverse Psoriasis and Hidradenitis: A Case Report of Multiple Disease in a Same Young Patient

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT We report a case of a 17‐year‐old girl diagnosed with several severe dermatological conditions: atopic dermatitis (AD), inverse and scalp psoriasis, pustular acne, and hidradenitis suppurativa (HS). We consider this case of particular interest because it is therapeutically challenging and because of its psychological impact on the patient's ...
Emanuele Amore, Federica Trovato, Giovanni Pellacani, Annunziata Dattola, Antonio Giovanni Richetta   +4 more
wiley   +1 more source

Clinical Conditions that Masquerade as Urticaria

European Medical Journal, 2019
Chronic urticaria is one of the most commonly diagnosed dermatoses. Following diagnosis, correct identification and proper treatment significantly reduces disease activity, thereby improving the patient’s quality of life.
Nofar Kimchi,, Jonathan A. Bernstein
doaj  

A de novo heterozygous PSTPIP1 variant associated with PAPA syndrome: a Chinese case report and literature review

Frontiers in Genetics
Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is a rare autosomal dominant hereditary autoinflammatory disease caused by PSTPIP1 gene variants and belongs to the PSTPIP1-associated inflammatory diseases (PAIDs).
Mengmeng Wang, Mengmeng Wang, Ping Zhang, Min Shen   +3 more
doaj   +1 more source