Results 31 to 40 of about 24,492 (179)

Central nervous system manifestations of monogenic autoinflammatory disorders and the neurotropic features of SARS-CoV-2: Drawing the parallels

Frontiers in Pediatrics, 2022
Central nervous system (CNS) involvement in monogenic autoinflammatory disorders (AID) is increasingly recognized and can be life threatening. Therefore, a low threshold to consider CNS disease should be maintained in patients with systemic inflammation.
Thomas Renson, Thomas Renson, Thomas Renson, Lorraine Hamiwka, Lorraine Hamiwka, Susanne Benseler, Susanne Benseler   +6 more
doaj   +1 more source

Autoinflammation and immunodeficiency [PDF]

Pediatric Rheumatology, 2014
Autoinflammatory diseases are characterized by more or less spontaneous inflammation without inciting infection or autoimmunity. These can be either acquired or genetically determined. The latter –hereditary– autoinflammatory syndromes have been classified by some as primary immunodeficiencies: defects affecting the control of the innate arm of the ...
openaire   +1 more source

Autoinflammation: translating mechanism to therapy [PDF]

Journal of Leukocyte Biology, 2011
ABSTRACTAutoinflammatory syndromes are a clinically heterogeneous collection of diseases characterized by dysregulation of the innate immune system. The hereditary recurrent fever disorders were the first to be defined as autoinflammatory. Several of the responsible genes are now known to encode proteins forming multimeric complexes called ...
Taylor A, Doherty, Susannah D, Brydges, Hal M, Hoffman   +2 more
openaire   +2 more sources

Immune Deficiency and Autoinflammation, the " Yin" and " Yang" of the Immune System

罕见病研究
Inborn errors of immunity (IEI) are immune system disorders caused by genetic mutations, often presenting with varying degrees of infection, immune dysregulation, lymphoproliferation, and tumor susceptibility.
ZHOU Yu, SONG Hongmei
doaj   +1 more source

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

Arthritis &Rheumatology, EarlyView.
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

Feasibility and acceptance of KIDSCREEN-52 as a screening tool for unmet needs in children with rare inflammatory diseases

Journal of Rare Diseases
Background Children living with rare diseases often face significant psychosocial challenges; recognizing and addressing these effectively is crucial. However, there is a paucity of comprehensive screening tools.
Özlem Satirer, Gabi Erbis, Verena Heck, Tatjana Welzel, Christiane Reiser, Anne-Kathrin Gellner, Susanne M. Benseler, Jasmin B. Kuemmerle-Deschner   +7 more
doaj   +1 more source

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +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

High‐ and Ultra‐High‐Frequency Ultrasound Identifies a Subclinical Link Between Suppurative Comedonal Nevus and Hidradenitis Suppurativa

Journal of Ultrasound in Medicine, EarlyView.
Suppurative nevus comedonicus (SNC) is a variant of nevus comedonicus in which the characteristic features coexist with recurrent inflammatory lesions that clinically resemble those of hidradenitis suppurativa (HS). We present the ultrasound characteristics of this entity and emphasize the value of high‐resolution dermatologic ultrasound both as a ...
Marta Ivars, Katia Henostroza, Fabià Torres‐Betato, Eva Vilarrasa, Ximena Wortsman   +4 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