Results 21 to 30 of about 305 (109)

Clinical and genetic spectrum of 14 cases of NLRP3-associated autoinflammatory disease (NLRP3-AID) in China and a review of the literature

Orphanet Journal of Rare Diseases, 2022
Background NLRP3-associated autoinflammatory disease (NLRP3-AID), caused by mutations of NLRP3, is one of the autoinflammatory diseases affecting inflammasomes.
Yu Zhou, Wei Wang, Linqing Zhong, Lin Wang, Mingsheng Ma, Xiaoyan Tang, Zhuo Li, Changyan Wang, Lijuan Gou, Tiannan Zhang, Hongmei Song   +10 more
doaj   +1 more source

Activation of GSDME compensates for GSDMD deficiency in a mouse model of NLRP3 inflammasomopathy [PDF]

, 2021
Abstract The D301N NLRP3 mutation in mice (D303N in humans) causes severe multi-organ damage and early death driven by the constitutively activated NLRP3 (NLRP3 ca ) inflammasome.
Chun Wang, Tong Yang, Jianqiu Xiao, Canxin Xu, Yael Alippe, Kai Sun, Thirumala-Devi Kanneganti, Joseph B. Monahan, Yousef Abu-Amer, Judy Lieberman, Gabriel Mbalaviele   +10 more
openaire   +1 more source

ENFERMEDADES AUTOINFLAMATORIAS SISTEMICAS, ENTIDADES EN AUGE: GENERALIDADES, PRINCIPALES SÍNDROMES MONOGÉNICOS Y APROXIMACIÓN AL MANEJO TERAPÉUTICO

Galicia Clínica, 2023
RESUMEN Las enfermedades autoinflamatorias sistémicas son entidades relativamente recientes ocasionadas por disregulación del sistema inmune innato. Están ocasionadas fundamentalmente por mutaciones monogénicas, aunque existen entidades producidas por ...
Virginia González Hidalgo
doaj   +1 more source

Inflammasomes and dermatology [PDF]

Anais Brasileiros de Dermatologia, 2016
: Inflammasomes are intracellular multiprotein complexes that comprise part of the innate immune response. Since their definition, inflammasome disorders have been linked to an increasing number of diseases.
Daniel Coelho de Sá, Cyro Festa Neto
doaj   +1 more source

Simultaneous diagnosis of adult-onset Still's disease and lymphoma: A case report and systematic review of the literature. [PDF]

Clin Case Rep
Key Clinical Message Differentiating Adult‐Onset Still's Disease (AOSD) from lymphoma is challenging. A 23‐year‐old female presented with polyarthralgia, fever, rash, lymphadenopathy, and abnormal labs. She met AOSD criteria and was diagnosed with non‐Hodgkin lymphoma. Treatment led to improvement. Abstract The differentiation between Adult‐onset Still'
Bayala YLT, Ouedraogo I, Mourfou HE, Son BA, Yameogo WN, Tinni IA, Zabsonré Tiendrébéogo WJS, Ouedraogo DD.   +7 more
europepmc   +2 more sources

DPP9 deficiency: an Inflammasomopathy which can be rescued by lowering NLRP1/IL-1 signaling [PDF]

, 2021
Abstract Dipeptidyl peptidase 9 (DPP9) is a direct inhibitor of NLRP1, but how it impacts inflammasome regulation in vivo is not yet established. Here, we report two families with immune-associated defects, skin pigmentation abnormalities and neurological deficits that segregate with biallelic DPP9
Cassandra R. Harapas, Kim S. Robinson, Kenneth Lay, Jasmine Wong, Ricardo Moreno Traspas, Nasrin Nabavizadeh, Annick Raas-Rothschild, Bertrand Boisson, Scott B. Drutman, Pawat Laohamonthonkul, Devon Bonner, Mark Gorrell, Sophia Davidson, Chien-Hsiung Yu, Hulya Kayserili, Nevin Hatipoglu, Jean-Laurent Casanova, Jonathan A. Bernstein, Franklin L. Zhong, Seth L. Masters, Bruno Reversade   +20 more
openaire   +1 more source

Vasculitis in Systemic Autoinflammatory Diseases

Frontiers in Pediatrics, 2018
Autoinflammatory diseases (AID) are diseases of the innate immune system, characterized by recurrent episodes of localized or systemic inflammation. Vasculitis may accompany AID.
Selcan Demir, Erdal Sag, Fatma Dedeoglu, Seza Ozen   +3 more
doaj   +1 more source

Periodic fever syndromes and the autoinflammatory diseases (AIDs)

Journal of Translational Autoimmunity, 2020
Innate immune system represents the ancestral defense against infectious agents preserved along the evolution and species; it is phylogenetically older than the adaptive immune system, which exists only in the vertebrates.
Achille Marino, Francesca Tirelli, Teresa Giani, Rolando Cimaz   +3 more
doaj   +1 more source

Novel Gene Deletion in NLRC4 Expanding the Familial Cold Inflammatory Syndrome Phenotype

Allergy & Rhinology, 2020
Familial cold inflammatory syndrome (FCAS) is a rare, inherited inflammatory disease characterized by episodes of fever, rash, and arthralgias after exposure to cold stimuli. Previous literature has established FCAS linked to autosomal dominant mutations
Jack Jeskey BS, OMS-III, Akash Parida BS, OMS-III, Kelsey Graven DO, Robert Hostoffer DO   +3 more
doaj   +1 more source

Genome sequencing unveils mutational landscape of the familial Mediterranean fever: Potential implications of IL33/ST2 signalling

Journal of Cellular and Molecular Medicine, Volume 24, Issue 19, Page 11294-11306, October 2020., 2020
Abstract Familial Mediterranean fever (FMF) is the most common auto‐inflammatory disease. It is transmitted as autosomal recessive trait with mutations in MEditerranean FeVer (MEFV) gene. Despite a typical clinical expression, many patients have either a single or no mutation in MEFV.
Meenakshi Umar, Andre Megarbane, Jingxuan Shan, Najeeb Syed, Eliane Chouery, Elbay Aliyev, Puthen Jithesh, Ramzi Temanni, Issam Mansour, Lotfi Chouchane, Aouatef Ismail Chouchane   +10 more
wiley   +1 more source