Bibliotecas PUC-SP - Busca Integrada

P403: Role of comprehensive renal genetic testing in diagnosing a RMND-1 mitochondrial disease in two adult cases exhibiting variable disease phenotypes

Por 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
Publicado no Genetics in Medicine Open (2024-01-01)

Role of Comprehensive Renal Genetic Testing in Diagnosing a RMND‐1 Mitochondrial Disease in Two Adult Cases Exhibiting Variable Disease Phenotypes

Por Quinn Stein, Ryan Mascarenhas, Sumit Punj, Maggie Westemeyer, Emily Hendricks, Tessa Pitman, Meg Hager, Nour Al Haj Baddar, Kristen Connors, Alexa Bacher, Robin Larson, Lauren Zec, Jennifer Stoddard
Publicado no Clinical Case Reports (2025-04-01)

Mulibrey nanism and immunological complications: a comprehensive case report and literature review

Por Andrea Gazzin, Andrea Gazzin, Francesca Pala, Marita Bosticardo, Julie Niemela, Jennifer Stoddard, Eleonora Biasin, Paola Quarello, Diana Carli, Diana Carli, Francesca Ferroni, Ottavia M. Delmonte, Davide Montin, Sergio D. Rosenzweig, Francesco Licciardi, Luigi D. Notarangelo
Publicado no Frontiers in Immunology (2023-12-01)

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

Por 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
Publicado no Frontiers in Immunology (2019-03-01)

Episodic angioedema with eosinophilia (Gleich syndrome) is a multilineage cell cycling disorder

Por Paneez Khoury, Jacqueline Herold, Alexandra Alpaugh, Ellen Dinerman, Nicole Holland-Thomas, Jennifer Stoddard, Shakuntala Gurprasad, Irina Maric, Olga Simakova, Lawrence B. Schwartz, Juelia Fong, Chyi-Chia Richard Lee, Liqiang Xi, Zengfeng Wang, Mark Raffeld, Amy D. Klion
Publicado no Haematologica (2015-03-01)

Disseminated and Congenital Toxoplasmosis in a Mother and Child With Activated PI3-Kinase δ Syndrome Type 2 (APDS2): Case Report and a Literature Review of Toxoplasma Infections in...

Por 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
Publicado no Frontiers in Immunology (2019-02-01)

Paradoxical CD4 Lymphopenia in Autoimmune Lymphoproliferative Syndrome (ALPS)

Por 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
Publicado no Frontiers in Immunology (2019-05-01)

Corrigendum: Paradoxical CD4 Lymphopenia in Autoimmune Lymphoproliferative Syndrome (ALPS)

Por 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
Publicado no Frontiers in Immunology (2019-07-01)

Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling

Por 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
Publicado no Nature Communications (2023-06-01)

Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS)

Por 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
Publicado no Frontiers in Immunology (2023-08-01)

Immunogenetics associated with severe coccidioidomycosis

Por 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
Publicado no JCI Insight (2022-11-01)

Flow cytometry-based diagnostic approach for inborn errors of immunity: experience from Algeria

Por 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
Publicado no Frontiers in Immunology (2024-07-01)