Zobrazeno 1 - 10
of 227
pro vyhledávání: '"Sergio D. Rosenzweig"'
Autor:
Azzeddine Tahiat, Reda Belbouab, Abdelghani Yagoubi, Saliha Hakem, Faiza Fernini, Malika Keddari, Hayet Belhadj, Souad Touri, Samira Aggoune, Jennifer Stoddard, Julie Niemela, Farida Zerifi, Souhila Melzi, Rawda Aboura, Amina Saad-Djaballah, Yacine Ferhani, Abdalbasset Ketfi, Hassen Messaoudi, Tahar Bencharif Madani, Zouleikha Benhacine, Abdelhak Dehimi, Kamelia Okka, Fairouz Amroune, Meriem Fellahi, Chafa Bendahmane, Radia Khoulani, Asma Oukil, Asma Soufane, Imene Bourelaf, Chahynez Boubidi, Nadia Boukhenfouf, Mohamed Amine Ifri, Noureddine Khelafi, Houda Boudiaf, Tahar Khelifi Touhami, Fethi Meçabih, Malika Boucelma, Amara Zelaci, Ourida Gacem, Mohamed Samir Ladj, Azzedine Mekki, Nadia Bensaadi, Malika Benhalima, Zoulikha Zeroual, Belkacem Bioud, Mustapha Benameur, Rachid Bouhdjila, Zahir Bouzerar, Ouardia Ibsaine, Hachemi Maouche, Leila Kedji, Leila Smati, Rachida Boukari, Claude Lambert, Sergio D. Rosenzweig, Luigi D. Notarangelo, Kamel Djenouhat
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
PurposeIn this study, we retrospectively reviewed the use of flow cytometry (FCM) in the diagnosis of inborn errors of immunity (IEIs) at a single center in Algeria. Sharing insights into our practical experience, we present FCM based diagnostic appr
Externí odkaz:
https://doaj.org/article/0373dc062c034461aab9cf65179e134c
Autor:
Timmy Strauss, Julia Körholz, Hye Sun Kuehn, Agustin A. Gil Silva, Franziska Taube, Karolin Trautmann-Grill, Anna Stittrich, Leonora Pietzsch, Ralf Wiedemuth, Volker Wahn, Horst von Bernuth, Sergio D. Rosenzweig, Maria Fasshauer, Renate Krüger, Catharina Schuetz
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Heterozygous germline variants in human IKZF1 encoding for IKAROS define an inborn error of immunity with immunodeficiency, immune dysregulation and risk of malignancy with a broad phenotypic spectrum. Growing evidence of underlying pathophysiologica
Externí odkaz:
https://doaj.org/article/3e8835010a834401813ac42077f21c6e
Autor:
Andrea Gazzin, Francesca Pala, Marita Bosticardo, Julie Niemela, Jennifer Stoddard, Eleonora Biasin, Paola Quarello, Diana Carli, Francesca Ferroni, Ottavia M. Delmonte, Davide Montin, Sergio D. Rosenzweig, Francesco Licciardi, Luigi D. Notarangelo
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
IntroductionMulibrey nanism (MUL) is a rare disorder caused by TRIM37 gene variants characterized by growth failure, dysmorphic features, congestive heart failure (CHF), and an increased risk of Wilms’ tumor. Although immune system impairment has b
Externí odkaz:
https://doaj.org/article/b64afc7eac1f4438a0e696ecab1e822e
Autor:
Cristiane J. Nunes-Santos, HyeSun Kuehn, Brigette Boast, SuJin Hwang, Douglas B. Kuhns, Jennifer Stoddard, Julie E. Niemela, Danielle L. Fink, Stefania Pittaluga, Mones Abu-Asab, John S. Davies, Valarie A. Barr, Tomoki Kawai, Ottavia M. Delmonte, Marita Bosticardo, Mary Garofalo, Magda Carneiro-Sampaio, Raz Somech, Mohammad Gharagozlou, Nima Parvaneh, Lawrence E. Samelson, Thomas A. Fleisher, Anne Puel, Luigi D. Notarangelo, Bertrand Boisson, Jean-Laurent Casanova, Beata Derfalvi, Sergio D. Rosenzweig
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-12 (2023)
Abstract We describe the first cases of germline biallelic null mutations in ARPC5, part of the Arp2/3 actin nucleator complex, in two unrelated patients presenting with recurrent and severe infections, early-onset autoimmunity, inflammation, and dys
Externí odkaz:
https://doaj.org/article/70df5eaacfeb4302a635c2f9e2561b5d
Autor:
Adriana A. de Jesus, Guibin Chen, Dan Yang, Tomas Brdicka, Natasha M. Ruth, David Bennin, Dita Cebecauerova, Hana Malcova, Helen Freeman, Neil Martin, Karel Svojgr, Murray H. Passo, Farzana Bhuyan, Sara Alehashemi, Andre T. Rastegar, Katsiaryna Uss, Lela Kardava, Bernadette Marrero, Iris Duric, Ebun Omoyinmi, Petra Peldova, Chyi-Chia Richard Lee, David E. Kleiner, Colleen M. Hadigan, Stephen M. Hewitt, Stefania Pittaluga, Carmelo Carmona-Rivera, Katherine R. Calvo, Nirali Shah, Miroslava Balascakova, Danielle L. Fink, Radana Kotalova, Zuzana Parackova, Lucie Peterkova, Daniela Kuzilkova, Vit Campr, Lucie Sramkova, Angelique Biancotto, Stephen R. Brooks, Cameron Manes, Eric Meffre, Rebecca L. Harper, Hyesun Kuehn, Mariana J. Kaplan, Paul Brogan, Sergio D. Rosenzweig, Melinda Merchant, Zuoming Deng, Anna Huttenlocher, Susan L. Moir, Douglas B. Kuhns, Manfred Boehm, Karolina Skvarova Kramarzova, Raphaela Goldbach-Mansky
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)
Neutrophilic inflammation is a hallmark of many monogenic autoinflammatory diseases. Here the authors report a case series of three unrelated boys with perinatal-onset of neutrophilic cutaneous small vessel vasculitis and systemic inflammation, and i
Externí odkaz:
https://doaj.org/article/ae467ac9fc384475ae6d8259f8ad7971
Autor:
David H. McDermott, Daniel Velez, Elena Cho, Edward W. Cowen, John J. DiGiovanna, Diana V. Pastrana, Christopher B. Buck, Katherine R. Calvo, Pamela J. Gardner, Sergio D. Rosenzweig, Pamela Stratton, Melissa A. Merideth, H. Jeffrey Kim, Carmen Brewer, James D. Katz, Douglas B. Kuhns, Harry L. Malech, Dean Follmann, Michael P. Fay, Philip M. Murphy
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 19 (2023)
BACKGROUND Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a primary immunodeficiency disorder caused by heterozygous gain-of-function CXCR4 mutations. Myelokathexis is a kind of neutropenia caused by neutrophil retenti
Externí odkaz:
https://doaj.org/article/98358f563c30456d8a0d14cbd0e6b4b5
Autor:
Jonas Johannes Papendorf, Frédéric Ebstein, Sara Alehashemi, Daniela Gerent Petry Piotto, Anna Kozlova, Maria Teresa Terreri, Anna Shcherbina, Andre Rastegar, Marta Rodrigues, Renan Pereira, Sophia Park, Bin Lin, Kat Uss, Sophie Möller, Ana Flávia da Silva Pina, Flavio Sztajnbok, Sofia Torreggiani, Julie Niemela, Jennifer Stoddard, Sergio D. Rosenzweig, Andrew J. Oler, Colton McNinch, Marietta M. de Guzman, Adriana Fonseca, Nicole Micheloni, Melissa Mariti Fraga, Sandro Félix Perazzio, Raphaela Goldbach-Mansky, Adriana A. de Jesus, Elke Krüger
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
Mutations in genes coding for proteasome subunits and/or proteasome assembly helpers typically cause recurring autoinflammation referred to as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE) or proteasom
Externí odkaz:
https://doaj.org/article/797414f038e44fa0bb0b536c59ac957d
Autor:
Antonios Papadopoulos, Nikolaos Tziolos, Aristine Cheng, Georgios Tsioulos, Konstantinos Thomas, Christina Kotsogianni, Agellos Banos, Julie E. Niemela, Tom DiMaggio, Steven Holland, Sergio D. Rosenzweig, Michail S. Lionakis, Dimitrios T. Boumpas
Publikováno v:
RMD Open, Vol 9, Iss 2 (2023)
Infections are among the most serious complications in patients with systemic lupus erythematosus (SLE), with bacterial and viral infections being the most common. Non-tuberculous mycobacterial (NTM) infections are quite rare and are typically seen i
Externí odkaz:
https://doaj.org/article/6ed33fcb5f934a59b224acd2d53997a4
Autor:
Amy P. Hsu, Agnieszka Korzeniowska, Cynthia C. Aguilar, Jingwen Gu, Eric Karlins, Andrew J. Oler, Gang Chen, Glennys V. Reynoso, Joie Davis, Alexandria Chaput, Tao Peng, Ling Sun, Justin B. Lack, Derek J. Bays, Ethan R. Stewart, Sarah E. Waldman, Daniel A. Powell, Fariba M. Donovan, Jigar V. Desai, Nima Pouladi, Debra A. Long Priel, Daisuke Yamanaka, Sergio D. Rosenzweig, Julie E. Niemela, Jennifer Stoddard, Alexandra F. Freeman, Christa S. Zerbe, Douglas B. Kuhns, Yves A. Lussier, Kenneth N. Olivier, Richard C. Boucher, Heather D. Hickman, Jeffrey Frelinger, Joshua Fierer, Lisa F. Shubitz, Thomas L. Leto, George R. Thompson III, John N. Galgiani, Michail S. Lionakis, Steven M. Holland
Publikováno v:
JCI Insight, Vol 7, Iss 22 (2022)
Disseminated coccidioidomycosis (DCM) is caused by Coccidioides, pathogenic fungi endemic to the southwestern United States and Mexico. Illness occurs in approximately 30% of those infected, less than 1% of whom develop disseminated disease. To addre
Externí odkaz:
https://doaj.org/article/cebc40ab082748549ea91e23e65f0242
Autor:
Elise M. N. Ferré, Monica M. Schmitt, Sebastian Ochoa, Lindsey B. Rosen, Elana R. Shaw, Peter D. Burbelo, Jennifer L. Stoddard, Shakuntala Rampertaap, Tom DiMaggio, Jenna R. E. Bergerson, Sergio D. Rosenzweig, Luigi D. Notarangelo, Steven M. Holland, Michail S. Lionakis
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
Patients with the monogenic immune dysregulatory syndrome autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), which is caused by loss-of-function mutations in the autoimmune regulator (AIRE) gene, uniformly carry neutralizing aut
Externí odkaz:
https://doaj.org/article/acd6acc1c18542d796f8e083c1f88d44