Zobrazeno 1 - 10
of 67
pro vyhledávání: '"Jennifer Stoddard"'
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:
Quinn Stein, Ryan Mascarenhas, Sumit Punj, Maggie Westemeyer, Emily Hendricks, Tessa Pitman, Meg Hager, Nour Baddar, Kristen Connors, Alexa Bacher, Robin Larson, Lauren Zec, Jennifer Stoddard
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101297- (2024)
Externí odkaz:
https://doaj.org/article/5be76fda695140efa16985df66da10a1
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:
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:
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:
Andrea Lisco, Chun-Shu Wong, Susan Price, Peiying Ye, Julie Niemela, Megan Anderson, Elizabeth Richards, Maura Manion, Harry Mystakelis, Morgan Similuk, Bernice Lo, Jennifer Stoddard, Sergio Rosenzweig, Christophe Vanpouille, Adam Rupert, Irina Maric, Ainhoa Perez-Diez, David Parenti, Peter D. Burbelo, V. Koneti Rao, Irini Sereti
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
Externí odkaz:
https://doaj.org/article/0c02a451dd20455b95a189bfdc1f0bc9
Autor:
Andrea Lisco, Chun-Shu Wong, Susan Price, Peiying Ye, Julie Niemela, Megan Anderson, Elizabeth Richards, Maura Manion, Harry Mystakelis, Morgan Similuk, Bernice Lo, Jennifer Stoddard, Sergio Rosenzweig, Christophe Vanpouille, Adam Rupert, Irina Maric, Ainhoa Perez-Diez, David Parenti, Peter D. Burbelo, V. Koneti Rao, Irini Sereti
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
Autoimmune lymphoproliferative syndrome (ALPS) is caused by germline or somatic loss of function FAS mutations resulting in impaired apoptosis and consequent expansion of T-lymphocytes causing organomegaly and autoimmune anemia, neutropenia and throm
Externí odkaz:
https://doaj.org/article/318ffdda9a354f6e903f114e3add0309
Autor:
Hirotsugu Oda, David B. Beck, Hye Sun Kuehn, Natalia Sampaio Moura, Patrycja Hoffmann, Maria Ibarra, Jennifer Stoddard, Wanxia Li Tsai, Gustavo Gutierrez-Cruz, Massimo Gadina, Sergio D. Rosenzweig, Daniel L. Kastner, Luigi D. Notarangelo, Ivona Aksentijevich
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
Background: HOIP is the catalytic subunit of the linear ubiquitination chain assembly complex (LUBAC) that is essential for NF-κB signaling and thus proper innate and adaptive immunity. To date only one patient with HOIP deficiency has been reported
Externí odkaz:
https://doaj.org/article/8af4a14f355248ea9daee0527dcd8fbe
Autor:
Djuro Karanovic, Ian C. Michelow, Anthony R. Hayward, Suk See DeRavin, Ottavia M. Delmonte, Michael E. Grigg, Adam Kerry Dobbs, Julie E. Niemela, Jennifer Stoddard, Zaid Alhinai, Natasha Rybak, Nancy Hernandez, Stefania Pittaluga, Sergio D. Rosenzweig, Gulbu Uzel, Luigi D. Notarangelo
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
Phosphoinositide 3-kinase (PI3K) plays an integral role in lymphocyte function. Mutations in PIK3CD and PIK3R1, encoding the PI3K p110δ and p85α subunits, respectively, cause increased PI3K activity and result in immunodeficiency with immune dysreg
Externí odkaz:
https://doaj.org/article/91e24ad155c14f3995e7c86499bc37f9