When less is more: primary immunodeficiency with an autoinflammatory kick

por Giannelou, Angeliki, Zhou, Qing, Kastner, Daniel L.
Publicado 2014

The Pyrin Inflammasome in Health and Disease

por Schnappauf, Oskar, Chae, Jae Jin, Kastner, Daniel L., Aksentijevich, Ivona
Publicado 2019

Disorders of ubiquitylation: unchained inflammation

por Beck, David B., Werner, Achim, Kastner, Daniel L., Aksentijevich, Ivona
Publicado 2022

Pyrin Inflammasome Activation and RhoA Signaling in the Autoinflammatory Diseases FMF and HIDS

por Park, Yong Hwan, Wood, Geryl, Kastner, Daniel L., Chae, Jae Jin
Publicado 2016

Hypophosphatasia and the risk of atypical femur fractures: a case–control study

por Bhattacharyya, Timothy, Jha, Smita, Wang, Hongying, Kastner, Daniel L., Remmers, Elaine F.
Publicado 2016

Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS)

por Bulua, Ariel C., Simon, Anna, Maddipati, Ravikanth, Pelletier, Martin, Park, Heiyoung, Kim, Kye-Young, Sack, Michael N., Kastner, Daniel L., Siegel, Richard M.
Publicado 2011

Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review

por Smith, Elisabeth J, Allantaz, Florence, Bennett, Lynda, Zhang, Dongping, Gao, Xiaochong, Wood, Geryl, Kastner, Daniel L, Punaro, Marilynn, Aksentijevich, Ivona, Pascual, Virginia, Wise, Carol A
Publicado 2010

Galantamine attenuates autoinflammation in a mouse model of familial mediterranean fever

por Mughrabi, Ibrahim T., Ochani, Mahendar, Tanovic, Mirza, Wang, Ping, Diamond, Betty, Sherry, Barbara, Pavlov, Valentin A., Ozen, Seza, Kastner, Daniel L., Chae, Jae Jin, Al-Abed, Yousef
Publicado 2022

Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report

por Schnappauf, Oskar, Heale, Liane, Dissanayake, Dilan, Tsai, Wanxia L., Gadina, Massimo, Leto, Thomas L., Kastner, Daniel L., Malech, Harry L., Kuhns, Douglas B., Aksentijevich, Ivona, Laxer, Ronald M.
Publicado 2021

Data for Genetic Analysis Workshop 16 Problem 1, association analysis of rheumatoid arthritis data

por Amos, Christopher I, Chen, Wei Vivien, Seldin, Michael F, Remmers, Elaine F, Taylor, Kimberly E, Criswell, Lindsey A, Lee, Annette T, Plenge, Robert M, Kastner, Daniel L, Gregersen, Peter K
Publicado 2009

Ultra-Rare Genetic Variation in Relapsing Polychondritis: A Whole-Exome Sequencing Study

por Luo, Yiming, Ferrada, Marcela A., Sikora, Keith A., Rankin, Cameron, Alessi, Hugh, Kastner, Daniel L., Deng, Zuoming, Zhang, Mengqi, Merkel, Peter A., Kraus, Virginia B., Allen, Andrew S., Grayson, Peter C.
Publicado 2023

PFAPA: a single phenotype with genetic heterogeneity

por Lapidus, Sivia K, Chitkara, Puja, Kim, Peter W, Aksentijevich, Ivona, Remmers, Elaine F, Feder, Henry, Barham, Beverly K, Jones, Anne, Ward, Michael M, Barron, Karyl S, Kastner, Daniel L, Stojanov, Silvia
Publicado 2012

Pyrin Modulates the Intracellular Distribution of PSTPIP1

por Waite, Andrea L., Schaner, Philip, Richards, Neil, Balci-Peynircioglu, Banu, Masters, Seth L., Brydges, Susannah D., Fox, Michelle, Hong, Arthur, Yilmaz, Engin, Kastner, Daniel L., Reinherz, Ellis L., Gumucio, Deborah L.
Publicado 2009

Case report: Novel variants in RELA associated with familial Behcet’s-like disease

por An, Jason W., Pimpale-Chavan, Pallavi, Stone, Deborah L., Bandeira, Marcia, Dedeoglu, Fatma, Lo, Jeffrey, Bohnsack, John, Rosenzweig, Sofia, Schnappauf, Oskar, Dissanayake, Dilan, Hiraki, Linda T., Kastner, Daniel L., Pelajo, Christina, Laxer, Ronald M., Aksentijevich, Ivona
Publicado 2023

Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB–Mediated Autoinflammatory Disease wit...

por Huryn, Laryssa A., Kozycki, Christina Torres, Serpen, Jasmine Y., Zein, Wadih M., Ullah, Ehsan, Iannaccone, Alessandro, Williams, Lloyd B., Sobrin, Lucia, Brooks, Brian P., Sen, H. Nida, Hufnagel, Robert B., Kastner, Daniel L., Kodati, Shilpa
Publicado 2023

Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC

por Oda, Hirotsugu, Beck, David B., Kuehn, Hye Sun, Sampaio Moura, Natalia, Hoffmann, Patrycja, Ibarra, Maria, Stoddard, Jennifer, Tsai, Wanxia Li, Gutierrez-Cruz, Gustavo, Gadina, Massimo, Rosenzweig, Sergio D., Kastner, Daniel L., Notarangelo, Luigi D., Aksentijevich, Ivona
Publicado 2019

Data for Genetic Analysis Workshop (GAW) 15 Problem 2, genetic causes of rheumatoid arthritis and associated traits

por Amos, Christopher I, Chen, Wei Vivien, Remmers, Elaine, Siminovitch, Katherine A, Seldin, Michael F, Criswell, Lindsey A, Lee, Annette T, John, Sally, Shephard, Neil D, Worthington, Jane, Cornelis, Francois, Plenge, Robert M, Begovich, Ann B, Dyer, Thomas D, Kastner, Daniel L, Gregersen, Peter K
Publicado 2007

Constitutively Activated NLRP3 Inflammasome Causes Inflammation and Abnormal Skeletal Development in Mice

por Bonar, Sheri L., Brydges, Susannah D., Mueller, James L., McGeough, Matthew D., Pena, Carla, Chen, Debbie, Grimston, Susan K., Hickman-Brecks, Cynthia L., Ravindran, Soumya, McAlinden, Audrey, Novack, Deborah V., Kastner, Daniel L., Civitelli, Roberto, Hoffman, Hal M., Mbalaviele, Gabriel
Publicado 2012

REL, a member of the NF-κB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis

por Gregersen, Peter K., Amos, Chistopher I, Lee, Annette T., Lu, Emily, Remmers, Elaine F., Kastner, Daniel L., Seldin, Michael F., Criswell, Lindsey A, Plenge, Robert M., Holers, V. Michael, Mikuls, Ted, Sokka, Tuulikki, Moreland, Larry W., Bridges, S. Louis, Xie, Gang, Begovich, Ann B., Siminovitch, Katherine A.
Publicado 2009

Aberrant actin depolymerization triggers the pyrin inflammasome and autoinflammatory disease that is dependent on IL-18, not IL-1β

por Kim, Man Lyang, Chae, Jae Jin, Park, Yong Hwan, De Nardo, Dominic, Stirzaker, Roslynn A., Ko, Hyun-Ja, Tye, Hazel, Cengia, Louise, DiRago, Ladina, Metcalf, Donald, Roberts, Andrew W., Kastner, Daniel L., Lew, Andrew M., Lyras, Dena, Kile, Benjamin T., Croker, Ben A., Masters, Seth L.
Publicado 2015