Alejandro Palma
7 Papers
1 Citations
Alejandro Palma is an academic researcher. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 1, co-authored 2 publications.
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Papers
Germline hypomorphic CARD11 mutations in severe atopic disease
Chi Ma,Jeffrey R. Stinson,Yuan Zhang,Jordan K. Abbott,Michael A. Weinreich,Pia J. Hauk,Paul R. Reynolds,Jonathan J. Lyons,Celeste G Nelson,Elisa Ruffo,Batsukh Dorjbal,Salomé Glauzy,Natsuko Yamakawa,Swadhinya Arjunaraja,Kelsey Voss,Jennifer Stoddard,Julie E. Niemela,Yu Zhang,Sergio D. Rosenzweig,Joshua J McElwee,Thomas DiMaggio,Helen F. Matthews,Nina Jones,Kelly D. Stone,Alejandro Palma,Matías Oleastro,Emma Prieto,Andrea Bernasconi,Geronimo Dubra,Silvia Danielian,Jonathan Zaiat,Marcelo A. Martí,Brian S. Kim,Megan A. Cooper,Neil Romberg,Eric Meffre,Erwin W. Gelfand,Andrew L. Snow,Joshua D. Milner +38 more
TL;DR: It is shown that a single hypomorphic mutation in CARD11 can cause potentially correctable cellular defects that lead to atopic dermatitis, and this data indicates that monogenic causes for severe manifestations of common allergic diseases have been identified.
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Monogenic Early-Onset Lymphoproliferation and Autoimmunity: The Natural History of STAT3 GOF Syndrome.
Jennifer W. Leiding,Tiphanie P. Vogel,Valentine G.J. Santarlas,Rahul Mhaskar,Madison R. Smith,Alexandre F. Carisey,Alexander Vargas-Hernández,Manuel Silva-Carmona,Maximilian Heeg,Anne Rensing-Ehl,Bénédicte Neven,Jérôme Hadjadj,Sophie Hambleton,Timothy Ronan Leahy,Martin van Hagen,Charlotte Cunningham-Rundles,Cullen M. Dutmer,Svetlana O. Sharapova,Mervi Taskinen,Ignatius Chua,Rosie Hague,Christian Klemann,Larysa Kostyuchenko,Tomohiro Morio,Akaluck Thatayatikom,Ahmet Ozen,Anna Scherbina,Cindy S. Bauer,Sarah E. Flanagan,Eleonora Gambineri,Lisa Giovannini-Chami,Jennifer Heimall,Kathleen E. Sullivan,Eric J. Allenspach,Neil Romberg,Sean Deane,Benjamin T Prince,Melissa J. Rose,John Bohnsack,Talal Mousallem,Rohith Jesudas,Maria Marluce dos Santos Vilela,Michael O'Sullivan,Jana Pachlopnik Schmid,Stepanka Pruhova,Matthew Rees,Helen C. Su,Sami L. Bahna,Safa Baris,Lisa M. Bartnikas,Amy Chang Berger,Tracy A Briggs,S. Brothers,Vanessa Bundy,Alice Y. Chan,Shanmuganathan Chandrakasan,Mette Christiansen,Theresa Cole,Matthew C. Cook,Mukesh Desai,Ute Fischer,David A. Fulcher,Silvanna Gallo,A. Gauthier,Andrew R. Gennery,José G. Marques,Frédéric Gottrand,Bodo Grimbacher,Eyal Grunebaum,Emma Haapaniemi,Sari Hämäläinen,Kaarina Heiskanen,Tarja Heiskanen-Kosma,Hal M. Hoffman,Luis Ignacio Gonzalez-Granado,A. L. Guerreiro,Leena Kainulainen,Ashish R Kumar,Monica G. Lawrence,Carina Levin,Timi Martelius,Olaf Neth,Peter Olbrich,Alejandro Palma,Niraj C. Patel,Tamara C Pozos,Kahn Preece,Saul Oswaldo Lugo Reyes,M.A. Russell,Yael Dinur Schejter,Christine M. Seroogy,Jan Sinclair,Effie Skevofilax,Dan Suan,Daniel Suegeorgz,Paul Szabolcs,Helena Fleck Velasco,Klaus Warnatz,Kelly Walkovich,Austen Worth,Mikko Seppänen,Troy R. Torgerson,Georgios Sogkas,Stephan Ehl,Stuart G. Tangye,Megan A. Cooper,Joshua D. Miller,Lisa R Forbes Satter,Svetlana Aleshkevich,Luis M. Allende,T. Prescott Atkinson,Faranaz Atschekzei,Sezin Aydemir,Utku Aygunes,Vincent Barlogis,Ulrich Baumann,John Belko,Liliana Bezrodnik,Ariane Biebl,Lori Broderick,Nancy Bunin,María Soledad Caldirola,Martin Castelle,Fatih Celmeli,Louis-Marie Charbonnier,Talal A. Chatila,Deepak Chellapandian,Haluk Cokugras,Niall Conlon,Fionnuala Cox,Etienne Crickx,Buket Dalgic,Virgil A. S. H. Dalm,Silvia Danielian,Nerea Domínguez-Pinilla,Tal Dujovny,Mikael Ebbo,Ahmet Eken,Brittany Esty,Alexandre Fabre,Alain Fischer,Mark C. Hannibal,Laura A. Huppert,Marc D. Ikeda,Stephen Jolles,Kent W. Jolly,Neil Jones,Musa Kakakukcu,Maria Kanariou,Elif Karakoc-Aydiner,Theoni Karamantziani,Charikleia Kelaidi,M. J. Keogan,Ayşenur Paç Kısaarslan,Ayca Kiykim,Adam Klocperk,Kosmas Kotsonis,Natalia B. Kuzmenko,Sylvie Leroy,Harry Lesmana,D. Lianou,Hilary Longhurst,Myriam Ricarda Lorenz,Patrick Maffucci,Ania Manson,Sarah Marchal,Marion Malphettes,L. F. Marega,Andrea A. Mauracher,Kornvalee Meesilpavikai,Holly K. Miller,Joy Mombourquette,Noel G. Morgan,Anna Mukhina,Aladjidi Nathalie,Brigitte Nelken,David Nolan,Anna-Carin Norlin,Matías Oleastro,Alper Ozcan,Marlène Pasquet,José R.M. Pegler,Capucine Picard,Sophia Polychronopoulou,Pierre Quartier,Jan Ramakers,Katrina L. Randall,V. Koneti Rao,Allison Sarah Remiker,Géraldine Resin,Peter Richmond,Frédéric Rieux-Laucat,Yulia Rodina,Pierre-Simon Rohrlich,John Sachs,Inga S. Sakovich,Christopher Santarlas,Sinan Sari,Gregory S. Sawicki,Uwe Dr. Schauer,Selma Cecilia Scheffler Mendoza,Oksana Schvetz,Reinhold E. Schmidt,Klaus Schwarz,Anna Sediva,Kyle James Sinclair,Mary Slatter,John W. Sleasman,Katerina Stergiou,Narissara Suratannon,Kayo Tanita,Grace Thompson,Stephen Travis,Timothy David Trojan,Maria Tsinti,Ekrem Unal,Luciano Urdinez,Felisa Vázquez-Gómez,Maria del Carmen Garcia Villa,Michael Weinrich,Mitchell J. Weiss,B. Wright,Ebru Yilmaz,Radana Zachova,Juan F. Quesada +224 more
TL;DR: In this paper , the authors defined the scope, natural history, treatment, and overall survival of a large global cohort of patients with pathogenic STAT3 gain-of-function (GOF) variants.
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Expanding spectrum, intrafamilial diversity, and therapeutic challenges from 15 patients with heterozygous CARD11-associated diseases: A single center experience
Luciano Urdinez,Lorenzo Erra,Alejandro Palma,María Florencia Mercogliano,Julieta Fernández,Emma Prieto,Verónica Goris,Andrea Bernasconi,Maria-angeles Sanz,M. Villa,Carolina Bouso,Lucia Caputi,Belén Barrantes Quesada,Daniel Solis,Anabel Aguirre Bruzzo,MM Katsicas,Laura Galluzzo,Christian Weyersberg,M. Bocian,María Marta Buján,Matías Oleastro,María Belén Almejún,Silvia Danielian +22 more
TL;DR: In this paper , the authors report clinical characteristics, immunophenotypes and genotypes of 15 patients from a center presenting with CARD11-associated diseases, including B cell expansion with NF-κB and T cell anergy (BENTA) diagnosis.
Corrigendum: Germline hypomorphic CARD11 mutations in severe atopic disease.
Chi Ma,Jeffrey R. Stinson,Yuan Zhang,Jordan K. Abbott,Michael A. Weinreich,Pia J. Hauk,Paul R. Reynolds,Jonathan J. Lyons,Celeste G Nelson,Elisa Ruffo,Batsukh Dorjbal,Salomé Glauzy,Natsuko Yamakawa,Swadhinya Arjunaraja,Kelsey Voss,Jennifer Stoddard,Julie E. Niemela,Yu Zhang,Sergio D. Rosenzweig,Joshua McElwee,Thomas DiMaggio,Helen F. Matthews,Nina Jones,Kelly D. Stone,Alejandro Palma,Matías Oleastro,Emma Prieto,Andrea Bernasconi,Geronimo Dubra,Silvia Danielian,Jonathan Zaiat,Marcelo A. Martí,Brian S. Kim,Megan A. Cooper,Neil Romberg,Eric Meffre,Erwin W. Gelfand,Andrew L. Snow,Joshua D. Milner +38 more
TL;DR: This corrects the article DOI: 10.1038/ng.3898 to indicate that the author of the paper is a doctor of medicine rather than a scientist, as previously reported.
[Microsporum gypseum dermatophytosis in a child with primary immunodeficiency].
Paola Cecilia Stefano,Lorena A Velasquez,Griselda Berberian,Eugenia Simonetti,Alejandro Palma,Marta Alvarez,Judith Yancoski,Andrea Bernasconi,Matías Oleastro,Andrea Bettina Cervini +9 more
TL;DR: A patient with extensive dermatophytosis is presented, which mycological examination led the identification of Candida sp, Epidermophyton Floccosum and Trichophyton tonsurans and showed poor response to treatment with griseofulvina and itraconazol at usual doses, and showed a defect of STAT1 with gain of function (STAT 1-GOF).