AUTOINFLAMMATORY

作品数：11被引量：46H指数：3
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Clinical heterogeneity of NLRP12-associated autoinflammatory diseases
《Genes & Diseases》2023年第3期1090-1100,共11页Yue Li Mengyue Deng Yulu Li Xiaolan Mao Shi Yan Xuemei Tang Huawei Mao 
supported in part by the National Key Research and Development Program of China(No.2021YFC2702005);National Natural Science Foundation of China(No.81971547);the Research Fund for Outstanding Youth Scholar of Chongqing Talents(No.CQYC201905003);the High-level Medical Reserved Personnel Training Project of Chongqing(No.2019181).
Nod-like receptor family pyrin domain-containing protein 12 (NLRP12) is one of the critical pattern recognition receptors which participates in the regulation of multiple inflammatory responses. Mutations in NLRP12 ca...
关键词：Autoinflammatory diseases Fanilial cold autoinflammatory syndr ome type 2(FCAS2) NLRP12-Associated autoinflammatory disease(NLRP12-AID) Nod-like receptor family pyrin domain-containing protein 12(NLRP12) Nuclear factor-Kappa B(NF-kB) 
Genetic Analysis of Familial Mediterranean Fever among Egyptian Patients
《Open Journal of Immunology》2022年第4期137-147,共11页Marwa A. Besar Adel Abd El Salam Asmaa F. Enein Samar Tharwat Radwan Fatma Hamdy Fouad Abeer Saad Ali El Zekred Nehed Abdallah Hassan 
Background: Familial Mediterranean fever (FMF) is an autoinflammatory genetic disorder that associated with different genetic mutations. Frequency of clinical manifestation differs according to age group, geographic r...
关键词：Familial Mediterranean Fever (FMF) MEFV Gene Mutation (M680I M694V M694I and V726A) FEVER Abdominal Pain AUTOINFLAMMATORY 
Allogeneic stem cell transplantation-A curative treatment for paroxysmal nocturnal hemoglobinuria with PIGT mutation:A case report
《World Journal of Clinical Cases》2022年第17期5702-5707,共6页Laurence Schenone Anne-Béatrice Notarantonio Véronique Latger-Cannard Veronique Fremeaux-Bacchi Marcelo De Carvalho-Bittencourt Marie-Thérèse Rubio Marc Muller Maud D'Aveni 
BACKGROUND Patients with paroxysmal nocturnal hemoglobinuria(PNH)have a clonal population of blood cells deficient in glycosylphosphatidylinositol-anchored(GPIanchored)proteins,most of the time resulting from a mutati...
关键词：Paroxysmal nocturnal hemoglobinuria Allogeneic stem cell transplantation PIGT mutation Recurrent meningitidis Autoinflammatory symptoms Case report 
“Autoinflammatory psoriasis”-genetics and biology of pustular psoriasis被引量：15
《Cellular & Molecular Immunology》2021年第2期307-317,共11页Ranjitha Uppala Lam C.Tsoi Paul W.Harms Bo Wang Allison C.Billi Emanual Maverakis J.Michelle Kahlenberg Nicole L.Ward Johann E.Gudjonsson 
This work was supported by the Babcock Endowment Fund(L.C.T.and J.E.G.),the National Institute of Arthritis and Musculoskeletal and Skin Diseases of the National Institutes of Health under award numbers R01-AR060802(J.E.G.),P30-AR075043(J.E.G.),and K01-AR072129(L.C.T.),and the National Institute of Allergy and Infectious Diseases under award number R01-AR069071(J.E.G.),the A.Alfred Taubman Medical Research Institute(J.E.G.and J.M.K.),the National Psoriasis Foundation(J.E.G,N.L.W.,J.M.K.,E.M.,and L.C.T.),and the Parfait Emerging Scholar Award(J.M.K.).L.C.T.is supported by the Dermatology Foundation,the Arthritis National Research Foundation,and the National Psoriasis Foundation.
Psoriasis is a chronic inflammatory skin condition that has a fairly wide range of clinical presentations.Plaque psoriasis,which is the most common manifestation of psoriasis,is located on one end of the spectrum,domi...
关键词：Pustular psoriasis GENETICS IL-36 AUTOINFLAMMATION Clinical features HISTOLOGY 
Current Review of Systemic Juvenile Idiopathic Arthritis: What Do Paediatricians Need to Know?
《Open Journal of Pediatrics》2020年第4期769-801,共33页Asma R. Albaker 
Systemic juvenile idiopathic arthritis is classified as an autoimmune entity and a subtype of juvenile idiopathic arthritis, although it has many features of autoinflamm...
关键词：Juvenile Idiopathic Arthritis Systemic Juvenile Idiopathic Arthritis AUTOINFLAMMATORY ARTHRITIS BIOLOGICS 
Haploinsufficiency of A20 (HA20): updates on the genetics, phenotype, pathogenesis and treatment被引量：21
《World Journal of Pediatrics》2020年第6期575-584,共10页Mei-Ping Yu Xi-Sheng Xu Qing Zhou Natalie Deuitch Mei-Ping Lu 
This study was supported by Basic Public Welfare Research Project of Zhejiang Province(LGF19H100002).
Background A20,a protein encoded by the tumor necrosis factor alpha-induced protein 3 gene(TNFAIP3),plays a vital role in the negative regulation of inflammation and immunity.Loss-of-function mutation in TNFAIP3 leads...
关键词：AUTOINFLAMMATORY disease HA20 NF-κB signaling TNFAIP3 Treatment 
Autoinflammatory characteristics and short-term effects of delivering high-dose steroids to the surface of the intact endolymphatic sac and incus in refractory Ménière’s disease被引量：6
《Journal of Otology》2019年第2期40-50,共11页Jing Zou 
supported by the National Natural Science Foundation of China(contract no.81771006)
Objective:To investigate immune-related genetic background in intractable Meniere’s disease(MD)and the immediate results of a novel therapy by delivering steroids to the surface of the intact endolymphatic sac(ES)and...
关键词：VESTIBULAR function TINNITUS Genetic disorders Hearing 
Issues and opportunities of stem cell therapy in autoimmune diseases被引量：1
《World Journal of Stem Cells》2019年第4期212-221,共10页Gy?rgyi M?zes Ferenc Sipos 
the StartUp Program of Semmelweis University Faculty of Medicine,No.SE10332470
The purpose of regenerative medicine is to restore or enhance the normal function of human cells, tissues, and organs. From a clinical point of view, the use of stem cells is more advantageous than differentiated cell...
关键词：Stem cell therapy AUTOIMMUNE AUTOINFLAMMATORY IMMUNOMODULATION DISEASE MODIFICATION 
Neither hereditary periodic fever nor periodic fever, aphthae, pharingitis, adenitis: Undifferentiated periodic fever in a tertiary pediatric center被引量：2
《World Journal of Clinical Pediatrics》2018年第1期49-55,共7页Silvia De Pauli Sara Lega Serena Pastore Domenico Leonardo Grasso Anna Monica Rosaria Bianco Giovanni Maria Severini Alberto Tommasini Andrea Taddio 
Supported by the Institute for Maternal and Child Health IRCCS Burlo Garofolo,No.RC36/11
AIM To describe the frequency and clinical characteristics of patients with undifferentiated periodic fever(UPF) and to investigate whether a clinical classification of UPF based on the PRINTO-Eurofever score can help...
关键词：HEREDITARY PERIODIC FEVER syndromes Therapy Genetics AUTOINFLAMMATORY diseases UNDIFFERENTIATED PERIODIC FEVER 
Fever tree revisited:From malaria to autoinflammatory diseases被引量：1
《World Journal of Clinical Pediatrics》2015年第4期106-112,共7页Serena Pastore Josef Vuch Anna Monica Bianco Andrea Taddio Alberto Tommasini 
Over the centuries the idea of recurrent fevers has mainly been associated with malaria, but many other fevers, such as typhoid and diphtheria were cause for concern. It is only in recent times, with the more severe f...
关键词：Recurrent fevers MALARIA AUTOINFLAMMATORY diseases Periodic FEVER ADENITIS pharyngytis aphthe syndrome History of medicine INTERLEUKIN-1 Genetics The FEVER TREE 
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