Search Results - "Hoffman, H M"

Brief Report: Clinical and Molecular Phenotypes of Low‐Penetrance Variants of NLRP3: Diagnostic and Therapeutic Challenges by Kuemmerle‐Deschner, J. B., Verma, D., Endres, T., Broderick, L., Jesus, A. A., Hofer, F., Blank, N., Krause, K., Rietschel, C., Horneff, G., Aksentijevich, I., Lohse, P., Goldbach‐Mansky, R., Hoffman, H. M., Benseler, S. M.

“…Objective Cryopyrin‐associated periodic syndromes (CAPS) result from gain‐of‐function mutations in the NLRP3 gene, which causes excessive release of…”
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Expression and regulation of cryopyrin and related proteins in rheumatoid arthritis synovium by Rosengren, S, Hoffman, H M, Bugbee, W, Boyle, D L

“…Background: Rheumatoid arthritis (RA) synovium is characterised by enhanced NF-κB activity and proinflammatory cytokines. Cryopyrin (CIAS-1, NALP-3, PYPAF-1)…”
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Familial Mediterranean fever (FMF) and beyond: a new horizon. Fourth International Congress on the Systemic Autoinflammatory Diseases held in Bethesda, USA, 6–10 November 2005 by Ozen, S, Hoffman, H M, Frenkel, J, Kastner, D

“…Autoinflammatory diseases are characterised by seemingly unprovoked inflammation. They can be categorised as: hereditary (monogenic) autoinflammatory diseases,…”
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Initial description of the human NLRP3 promoter by Anderson, J P, Mueller, J L, Misaghi, A, Anderson, S, Sivagnanam, M, Kolodner, R D, Hoffman, H M

“…Mutations in NLRP3 ( CIAS1 ) are identified in a continuum of related inflammatory disorders, known as cryopyrinopathies since NLRP3 codes for the protein…”
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Identification of a Locus on Chromosome 1q44 for Familial Cold Urticaria by Hoffman, Hal M., Wright, Fred A., Broide, David H., Wanderer, Alan A., Kolodner, Richard D.

“…Familial cold urticaria (FCU) is a rare autosomal dominant inflammatory disorder characterized by intermittent episodes of rash with fever, arthralgias,…”
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Clinical and Molecular Phenotypes of Low-Penetrance Variants of NLRP3: Diagnostic and Therapeutic Challenges by Kuemmerle-Deschner, J B, Verma, D, Endres, T, Broderick, L, de Jesus, A A, Hofer, F, Blank, N, Krause, K, Rietschel, C, Horneff, G, Aksentijevich, I, Lohse, P, Goldbach-Mansky, R, Hoffman, H M, Benseler, S M

“…Cryopyrin-associated periodic syndromes (CAPS) result from gain-of-function mutations in the NLRP3 gene, which causes excessive release of interleukin-1β…”
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Autoinflammatory syndromes by GALEAZZI, M, GASBARRINI, G, DORIA, A, GHIRARDELLO, A, GRANDEMANGE, S, HOFFMAN, H. M, MANNA, R, PODSWIADEK, M, PUNZI, L, SEBASTIANI, G. D, TOUITOU, I

“…The autoinflammatory disorders are a new and expanding classification of inflammatory diseases characterized by recurrent episodes of systemic inflammation in…”
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Guidelines for the genetic diagnosis of hereditary recurrent fevers by Shinar, Y, Obici, L, Aksentijevich, I, Bennetts, B, Austrup, F, Ceccherini, I, Costa, J M, De Leener, A, Gattorno, M, Kania, U, Kone-Paut, I, Lezer, S, Livneh, A, Moix, I, Nishikomori, R, Ozen, S, Phylactou, L, Risom, L, Rowczenio, D, Sarkisian, T, van Gijn, M E, Witsch-Baumgartner, M, Morris, M, Hoffman, H M, Touitou, I

“…Hereditary recurrent fevers (HRFs) are a group of monogenic autoinflammatory diseases characterised by recurrent bouts of fever and serosal inflammation that…”
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The clinical course of a child with CINCA NOMID syndrome improved during and after treatment with thalidomide by Kallinich, T., Hoffman, H. M., Roth, J., Keitzer, R.

“…Chronic, infantile, neurological, cutaneous, and articular (CINCA) syndrome, also known as neonatal-onset multisystem inflammatory disease (NOMID), is a rare…”
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Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome by Hoffman, Hal M, Mueller, James L, Broide, David H, Wanderer, Alan A, Kolodner, Richard D

“…Familial cold autoinflammatory syndrome (FCAS, MIM 120100), commonly known as familial cold urticaria (FCU), is an autosomal-dominant systemic inflammatory…”
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A case of familial cold autoinflammatory syndrome confirmed by the presence of a CIAS1 mutation by Shpall, R.L., Jeffes, E.W.B., Hoffman, H.M.

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Familial cold autoinflammatory syndrome: Phenotype and genotype of an autosomal dominant periodic fever by Hoffman, Hal M., Wanderer, Alan A., Broide, David H.

“…Background: Familial cold autoinflammatory syndrome (FCAS), commonly known as familial cold urticaria, is a rare autosomal dominant inflammatory disorder with…”
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Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis by Aganna, E, Hawkins, P N, Ozen, S, Pettersson, T, Bybee, A, McKee, S A, Lachmann, H J, Karenko, L, Ranki, A, Bakkaloglu, A, Besbas, N, Topaloglu, R, Hoffman, H M, Hitman, G A, Woo, P, McDermott, M F

“…We investigated the hypothesis that low-penetrance mutations in genes (TNFRSF1A, MEFV and NALP3/CIAS1) associated with hereditary periodic fever syndromes…”
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Kinetic Monte Carlo simulation of monolayer gold film growth on a graphite substrate by Claassens, C. H., Terblans, J. J., Hoffman, M. J. H., Swart, H. C.

“…The growth process of a gold thin film, in the sub‐monolayer region, on a graphite substrate is studied by means of kinetic Monte Carlo simulations. Four…”
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Antibiotic-impregnated cement use in U.S. hospitals by Fish, D N, Hoffman, H M, Danziger, L H

“…The results of a survey of the use of antibiotic-impregnated bone cement and cement beads in U.S. hospitals are reported. A random sample of hospitals was…”
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Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P by HOFFMAN, Hal M, GREGORY, Simon G, MUELLER, James L, TRESIERRAS, Mark, BROIDE, David H, WANDERER, Alan A, KOLODNER, Richard D

“…Familial cold autoinflammatory syndrome (FCAS) is an autosomal dominant inflammatory disease with a high degree of penetrance that is characterized by episodes…”
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Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes by De Benedetti, Fabrizio, Gattorno, Marco, Anton, Jordi, Ben-Chetrit, Eldad, Frenkel, Joost, Hoffman, Hal M, Koné-Paut, Isabelle, Lachmann, Helen J, Ozen, Seza, Simon, Anna, Zeft, Andrew, Calvo Penades, Inmaculada, Moutschen, Michel, Quartier, Pierre, Kasapcopur, Ozgur, Shcherbina, Anna, Hofer, Michael, Hashkes, Philip J, Van der Hilst, Jeroen, Hara, Ryoki, Bujan-Rivas, Segundo, Constantin, Tamas, Gul, Ahmet, Livneh, Avi, Brogan, Paul, Cattalini, Marco, Obici, Laura, Lheritier, Karine, Speziale, Antonio, Junge, Guido

“…The anti–interleukin-1 antibody canakinumab was effective at controlling and preventing recurrence of flares in autoimmune inflammatory diseases: familial…”
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A large kindred with familial cold autoinflammatory syndrome by Johnstone, Reid F, Dolen, William K, Hoffman, Hal M

“…Familial cold autoinflammatory syndrome (FCAS), formerly known as familial cold urticaria, is a rare condition characterized by fever, rash, and arthralgias…”
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CC-IMED: the California Consortium for Informatics in Medical Education and Development by Kwak, A R, Jurisic, N, Dev, P, Hoffman, H M, Irwin, A

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Monogenic Early-Onset Lymphoproliferation and Autoimmunity: The Natural History of STAT3 GOF Syndrome by Leiding, J. W., Vogel, T. P., Santarlas, V. G. J., Mhaskar, R., Smith, M. R., Carisey, A., Vargas-Hernandez, A., Silva-Carmona, M., Heeg, M., Rensing-Ehl, A., Neven, Bénédicte, Hadjadj, Jérôme, Hambleton, S., Leahy, T. R., van Hagen, M., Cunningham-Rundles, C., Dutmer, C. M., Sharapova, S. O., Taskinen, M., Chua, I., Hague, R., Klemann, C., Kostyuchenko, L., Morio, T., Thatayatikom, A., Ozen, A., Scherbina, A., Bauer, C. S., Flanagan, S. E., Gambineri, E., Giovannini-Chami, Lisa, Heimall, J., Sullivan, K. E., Allenspach, E., Romberg, N., Deane, S. G., Prince, B. T., Rose, M., Bohnsack, J., Mousallem, T., Jesudas, R., dos Santos Vilela, M. M., O'Sullivan, M., Schmid, J. P., Průhová, Š., Rees, M., Su, H., Bahna, S., Baris, S., Bartnikas, L. M., Chang Berger, A., Briggs, T. A., Brothers, S., Bundy, V., Chan, A. Y., Chandrakasan, S., Christiansen, M., Cole, T., Cook, M. C., Desai, M. M., Fischer, U., Fulcher, D. A., Gallo, S., Gauthier, A., Gennery, A. R., Marques, J. G., Gottrand, Fréderic, Grimbacher, B., Grunebaum, E., Haapaniemi, E., Hämäläinen, S., Heiskanen, K., Heiskanen-Kosma, T., Hoffman, H. M., Gonzalez-Granado, L. I., Guerreiro, A. L., Kainulainen, L., Kumar, A., Lawrence, M. G., Levin, C., Martelius, T., Neth, O., Olbrich, P., Palma, A., Patel, N. C., Pozos, T., Preece, K., Lugo Reyes, S. O., Russell, M. A., Schejter, Y., Seroogy, C., Sinclair, J., Skevofilax, E., Suan, D., Suegeorgz, D., Szabolcs, P., Velasco, H., Warnatz, K., Walkovich, K., Worth, A.

“…BackgroundIn 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel…”
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