Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs

por Stoddard, Jennifer L., Niemela, Julie E., Fleisher, Thomas A., Rosenzweig, Sergio D.
Publicado 2014

Magnesium Restores Activity to Peripheral Blood Cells in a Patient With Functionally Impaired Interleukin-2-Inducible T Cell Kinase

por Howe, Matthew K., Dowdell, Kennichi, Roy, Amitava, Niemela, Julie E., Wilson, Wyndham, McElwee, Joshua J., Hughes, Jason D., Cohen, Jeffrey I.
Publicado 2019

NF-kappa-B essential modulator (NEMO) gene polymorphism in an adult woman with systemic lupus erythematosus and recurrent non-tuberculous mycobacterial disseminated infections

por Thomas, Konstantinos, Tsioulos, Georgios, Kotsogianni, Christina, Banos, Agellos, Niemela, Julie E., Cheng, Aristine, DiMaggio, Tom, Holland, Steven, Rosenzweig, Sergio D., Tziolos, Nikolaos, Papadopoulos, Antonios, Lionakis, Michail S., Boumpas, Dimitrios T.
Publicado 2023

A Unique Heterozygous CARD11 Mutation Combines Pathogenic Features of Both Gain- and Loss-of-Function Patients in a Four-Generation Family

por Desjardins, Marylin, Arjunaraja, Swadhinya, Stinson, Jeffrey R., Dorjbal, Batsukh, Sundaresan, Janani, Niemela, Julie, Raffeld, Mark, Matthews, Helen F., Wang, Angela, Angelus, Pamela, Su, Helen C., Mazer, Bruce D., Snow, Andrew L.
Publicado 2018

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes

por Bogaert, Delfien J., Dullaers, Melissa, Kuehn, Hye Sun, Leroy, Bart P., Niemela, Julie E., De Wilde, Hans, De Schryver, Sarah, De Bruyne, Marieke, Coppieters, Frauke, Lambrecht, Bart N., De Baets, Frans, Rosenzweig, Sergio D., De Baere, Elfride, Haerynck, Filomeen
Publicado 2017

Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India

por Aluri, Jahnavi, Desai, Mukesh, Gupta, Maya, Dalvi, Aparna, Terance, Antony, Rosenzweig, Sergio D., Stoddard, Jennifer L., Niemela, Julie E., Tamankar, Vasundhara, Mhatre, Snehal, Bargir, Umair, Kulkarni, Manasi, Shah, Nitin, Aggarwal, Amita, Lashkari, Harsha Prasada, Krishna, Vidya, Govindaraj, Geeta, Kalra, Manas, Madkaikar, Manisha
Publicado 2019

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 Karanovic, Djuro, Michelow, Ian C., Hayward, Anthony R., DeRavin, Suk See, Delmonte, Ottavia M., Grigg, Michael E., Dobbs, Adam Kerry, Niemela, Julie E., Stoddard, Jennifer, Alhinai, Zaid, Rybak, Natasha, Hernandez, Nancy, Pittaluga, Stefania, Rosenzweig, Sergio D., Uzel, Gulbu, Notarangelo, Luigi D.
Publicado 2019

Paradoxical CD4 Lymphopenia in Autoimmune Lymphoproliferative Syndrome (ALPS)

por Lisco, Andrea, Wong, Chun-Shu, Price, Susan, Ye, Peiying, Niemela, Julie, Anderson, Megan, Richards, Elizabeth, Manion, Maura, Mystakelis, Harry, Similuk, Morgan, Lo, Bernice, Stoddard, Jennifer, Rosenzweig, Sergio, Vanpouille, Christophe, Rupert, Adam, Maric, Irina, Perez-Diez, Ainhoa, Parenti, David, Burbelo, Peter D., Rao, V. Koneti, Sereti, Irini
Publicado 2019

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

por Lisco, Andrea, Wong, Chun-Shu, Price, Susan, Ye, Peiying, Niemela, Julie, Anderson, Megan, Richards, Elizabeth, Manion, Maura, Mystakelis, Harry, Similuk, Morgan, Lo, Bernice, Stoddard, Jennifer, Rosenzweig, Sergio, Vanpouille, Christophe, Rupert, Adam, Maric, Irina, Perez-Diez, Ainhoa, Parenti, David, Burbelo, Peter D., Rao, V. Koneti, Sereti, Irini
Publicado 2019

T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients

por Kuehn, Hye Sun, Chang, Jingjie, Yamashita, Motoi, Niemela, Julie E., Zou, Chengcheng, Okuyama, Kazuki, Harada, Junji, Stoddard, Jennifer L., Nunes-Santos, Cristiane J., Boast, Brigette, Baxter, Ryan M., Hsieh, Elena W.Y., Garofalo, Mary, Fleisher, Thomas A., Morio, Tomohiro, Taniuchi, Ichiro, Dutmer, Cullen M., Rosenzweig, Sergio D.
Publicado 2021

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

por Nunes-Santos, Cristiane J., Kuehn, HyeSun, Boast, Brigette, Hwang, SuJin, Kuhns, Douglas B., Stoddard, Jennifer, Niemela, Julie E., Fink, Danielle L., Pittaluga, Stefania, Abu-Asab, Mones, Davies, John S., Barr, Valarie A., Kawai, Tomoki, Delmonte, Ottavia M., Bosticardo, Marita, Garofalo, Mary, Carneiro-Sampaio, Magda, Somech, Raz, Gharagozlou, Mohammad, Parvaneh, Nima, Samelson, Lawrence E., Fleisher, Thomas A., Puel, Anne, Notarangelo, Luigi D., Boisson, Bertrand, Casanova, Jean-Laurent, Derfalvi, Beata, Rosenzweig, Sergio D.
Publicado 2023

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

por Papendorf, Jonas Johannes, Ebstein, Frédéric, Alehashemi, Sara, Piotto, Daniela Gerent Petry, Kozlova, Anna, Terreri, Maria Teresa, Shcherbina, Anna, Rastegar, Andre, Rodrigues, Marta, Pereira, Renan, Park, Sophia, Lin, Bin, Uss, Kat, Möller, Sophie, da Silva Pina, Ana Flávia, Sztajnbok, Flavio, Torreggiani, Sofia, Niemela, Julie, Stoddard, Jennifer, Rosenzweig, Sergio D., Oler, Andrew J., McNinch, Colton, de Guzman, Marietta M., Fonseca, Adriana, Micheloni, Nicole, Fraga, Melissa Mariti, Perazzio, Sandro Félix, Goldbach-Mansky, Raphaela, de Jesus, Adriana A., Krüger, Elke
Publicado 2023

Germline hypomorphic CARD11 mutations in severe atopic disease

por Ma, Chi A, Stinson, Jeffrey R, Zhang, Yuan, Abbott, Jordan K, Weinreich, Michael A, Hauk, Pia J, Reynolds, Paul R, Lyons, Jonathan J, Nelson, Celeste G, Ruffo, Elisa, Dorjbal, Batsukh, Glauzy, Salomé, Yamakawa, Natsuko, Arjunaraja, Swadhinya, Voss, Kelsey, Stoddard, Jennifer, Niemela, Julie, Zhang, Yu, Rosenzweig, Sergio D, McElwee, Joshua J, DiMaggio, Thomas, Matthews, Helen F, Jones, Nina, Stone, Kelly D, Palma, Alejandro, Oleastro, Matías, Prieto, Emma, Bernasconi, Andrea R, Dubra, Geronimo, Danielian, Silvia, Zaiat, Jonathan, Marti, Marcelo A, Kim, Brian, Cooper, Megan A, Romberg, Neil D, Meffre, Eric, Gelfand, Erwin W, Snow, Andrew L, Milner, Joshua D
Publicado 2017

Immunogenetics associated with severe coccidioidomycosis

por Hsu, Amy P., Korzeniowska, Agnieszka, Aguilar, Cynthia C., Gu, Jingwen, Karlins, Eric, Oler, Andrew J., Chen, Gang, Reynoso, Glennys V., Davis, Joie, Chaput, Alexandria, Peng, Tao, Sun, Ling, Lack, Justin B., Bays, Derek J., Stewart, Ethan R., Waldman, Sarah E., Powell, Daniel A., Donovan, Fariba M., Desai, Jigar V., Pouladi, Nima, Long Priel, Debra A., Yamanaka, Daisuke, Rosenzweig, Sergio D., Niemela, Julie E., Stoddard, Jennifer, Freeman, Alexandra F., Zerbe, Christa S., Kuhns, Douglas B., Lussier, Yves A., Olivier, Kenneth N., Boucher, Richard C., Hickman, Heather D., Frelinger, Jeffrey, Fierer, Joshua, Shubitz, Lisa F., Leto, Thomas L., Thompson, George R., Galgiani, John N., Lionakis, Michail S., Holland, Steven M.
Publicado 2022

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors

por Giannelou, Angeliki, Wang, Hongying, Zhou, Qing, Park, Yong Hwan, Abu-Asab, Mones S, Ylaya, Kris, Stone, Deborah L, Sediva, Anna, Sleiman, Rola, Sramkova, Lucie, Bhatla, Deepika, Serti, Elisavet, Tsai, Wanxia Li, Yang, Dan, Bishop, Kevin, Carrington, Blake, Pei, Wuhong, Deuitch, Natalie, Brooks, Stephen, Edwan, Jehad H, Joshi, Sarita, Prader, Seraina, Kaiser, Daniela, Owen, William C, Sonbul, Abdullah Al, Zhang, Yu, Niemela, Julie E, Burgess, Shawn M, Boehm, Manfred, Rehermann, Barbara, Chae, JaeJin, Quezado, Martha M, Ombrello, Amanda K, Buckley, Rebecca H, Grom, Alexi A, Remmers, Elaine F, Pachlopnik, Jana M, Su, Helen C, Gutierrez-Cruz, Gustavo, Hewitt, Stephen M, Sood, Raman, Risma, Kimberly, Calvo, Katherine R, Rosenzweig, Sergio D, Gadina, Massimo, Hafner, Markus, Sun, Hong-Wei, Kastner, Daniel L, Aksentijevich, Ivona
Publicado 2018

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

por Kreins, Alexandra Y., Ciancanelli, Michael J., Okada, Satoshi, Kong, Xiao-Fei, Ramírez-Alejo, Noé, Kilic, Sara Sebnem, El Baghdadi, Jamila, Nonoyama, Shigeaki, Mahdaviani, Seyed Alireza, Ailal, Fatima, Bousfiha, Aziz, Mansouri, Davood, Nievas, Elma, Ma, Cindy S., Rao, Geetha, Bernasconi, Andrea, Sun Kuehn, Hye, Niemela, Julie, Stoddard, Jennifer, Deveau, Paul, Cobat, Aurelie, El Azbaoui, Safa, Sabri, Ayoub, Lim, Che Kang, Sundin, Mikael, Avery, Danielle T., Halwani, Rabih, Grant, Audrey V., Boisson, Bertrand, Bogunovic, Dusan, Itan, Yuval, Moncada-Velez, Marcela, Martinez-Barricarte, Ruben, Migaud, Melanie, Deswarte, Caroline, Alsina, Laia, Kotlarz, Daniel, Klein, Christoph, Muller-Fleckenstein, Ingrid, Fleckenstein, Bernhard, Cormier-Daire, Valerie, Rose-John, Stefan, Picard, Capucine, Hammarstrom, Lennart, Puel, Anne, Al-Muhsen, Saleh, Abel, Laurent, Chaussabel, Damien, Rosenzweig, Sergio D., Minegishi, Yoshiyuki, Tangye, Stuart G., Bustamante, Jacinta, Casanova, Jean-Laurent, Boisson-Dupuis, Stéphanie
Publicado 2015

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

por Sharma, Mehul, Leung, Daniel, Momenilandi, Mana, Jones, Lauren C.W., Pacillo, Lucia, James, Alyssa E., Murrell, Jill R., Delafontaine, Selket, Maimaris, Jesmeen, Vaseghi-Shanjani, Maryam, Del Bel, Kate L., Lu, Henry Y., Chua, Gilbert T., Di Cesare, Silvia, Fornes, Oriol, Liu, Zhongyi, Di Matteo, Gigliola, Fu, Maggie P., Amodio, Donato, Tam, Issan Yee San, Chan, Gavin Shueng Wai, Sharma, Ashish A., Dalmann, Joshua, van der Lee, Robin, Blanchard-Rohner, Géraldine, Lin, Susan, Philippot, Quentin, Richmond, Phillip A., Lee, Jessica J., Matthews, Allison, Seear, Michael, Turvey, Alexandra K., Philips, Rachael L., Brown-Whitehorn, Terri F., Gray, Christopher J., Izumi, Kosuke, Treat, James R., Wood, Kathleen H., Lack, Justin, Khleborodova, Asya, Niemela, Julie E., Yang, Xingtian, Liang, Rui, Kui, Lin, Wong, Christina Sze Man, Poon, Grace Wing Kit, Hoischen, Alexander, van der Made, Caspar I., Yang, Jing, Chan, Koon Wing, Rosa Duque, Jaime Sou Da, Lee, Pamela Pui Wah, Ho, Marco Hok Kung, Chung, Brian Hon Yin, Le, Huong Thi Minh, Yang, Wanling, Rohani, Pejman, Fouladvand, Ali, Rokni-Zadeh, Hassan, Changi-Ashtiani, Majid, Miryounesi, Mohammad, Puel, Anne, Shahrooei, Mohammad, Finocchi, Andrea, Rossi, Paolo, Rivalta, Beatrice, Cifaldi, Cristina, Novelli, Antonio, Passarelli, Chiara, Arasi, Stefania, Bullens, Dominique, Sauer, Kate, Claeys, Tania, Biggs, Catherine M., Morris, Emma C., Rosenzweig, Sergio D., O’Shea, John J., Wasserman, Wyeth W., Bedford, H. Melanie, van Karnebeek, Clara D.M., Palma, Paolo, Burns, Siobhan O., Meyts, Isabelle, Casanova, Jean-Laurent, Lyons, Jonathan J., Parvaneh, Nima, Nguyen, Anh Thi Van, Cancrini, Caterina, Heimall, Jennifer, Ahmed, Hanan, McKinnon, Margaret L., Lau, Yu Lung, Béziat, Vivien, Turvey, Stuart E.
Publicado 2023