المؤلفون: Shiue, Mia, Nyman, Annique^{Aff1, Aff2}, Karvell, Robert, Partington, Sara L.^{Aff1, Aff2}, Preminger, Tamar J., Reda, Christian, Ruckdeschel, Emily^{Aff1, Aff2}, Sullivan, Kathleen, Tobin, Lynda, Vaikunth, Sumeet S.^{Aff1, Aff2}, Saef, Joshua, Tedla, Bruke A., Kim, Yuli Y.^{Aff1, Aff2, Aff3, IDs00246024035336_cor13}

المصدر: Pediatric Cardiology. :1-9

المؤلفون: Erez, Daniella Levy^{Aff1, Aff2, Aff3, IDs00467023060514_cor1}, Lokesh, Shah, Howarth, Kathryn D., Meloni, Sherin, Ballester, Lance, Laskin, Benjamin^{Aff1, Aff2}, Sullivan, Kathleen E.^{Aff2, Aff6}, Blinder, Joshua^{Aff7, Aff8}

المصدر: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association. 39(2):589-595

المؤلفون: McDonnell, John^{Aff1, IDs10875023016135_cor1}, Cousins, Kimberley, Younger, M. Elizabeth M., Lane, Adam^{Aff3, Aff4}, Abolhassani, Hassan^{Aff5, Aff6}, Abraham, Roshini S.^{Aff7, Aff8}, Al-Tamemi, Salem, Aldave-Becerra, Juan Carlos, Al-Faris, Eman Hesham, Alfaro-Murillo, Alberto, AlKhater, Suzan A.^{Aff13, Aff14}, Alsaati, Nouf, Doss, Alexa Michelle Altman, Anderson, Melissa, Angarola, Ernestina, Ariue, Barbara, Arnold, Danielle E., Assa’ad, Amal H., Aytekin, Caner, Bank, Meaghan, Bergerson, Jenna R. E., Bleesing, Jack^{Aff3, Aff4}, Boesing, John, Bouso, Carolina, Brodszki, Nicholas, Cabanillas, Diana, Cady, Carol, Callahan, Meghan A., Caorsi, Roberta, Carbone, Javier, Carrabba, Maria, Castagnoli, Riccardo^{Aff34, Aff35}, Catanzaro, Jason R., Chan, Samantha, Chandra, Sharat^{Aff3, Aff4}, Chapdelaine, Hugo, Chavoshzadeh, Zahra, Chong, Hey Jin, Connors, Lori, Consonni, Filippo, Correa-Jimenez, Oscar, Cunningham-Rundles, Charlotte, D’Astous-Gauthier, Katherine, Delmonte, Ottavia Maria, Demirdag, Yesim Yilmaz, Deshpande, Deepti R., Diaz-Cabrera, Natalie M., Dimitriades, Victoria R., El-Owaidy, Rasha, ElGhazali, Gehad, Al-Hammadi, Suleiman, Fabio, Giovanna, Faure, Astrid Schellnast, Feng, Jin, Fernandez, James M., Fill, Lauren, Franco, Guacira R., Frenck, Robert W.^{Aff4, Aff57}, Fuleihan, Ramsay L., Giardino, Giuliana, Galant-Swafford, Jessica, Gambineri, Eleonora^{Aff42, Aff61}, Garabedian, Elizabeth K., Geerlinks, Ashley V., Goudouris, Ekaterini, Grecco, Octavio, Pan-Hammarström, Qiang, Khani, Hedieh Haji Khodaverdi, Hammarström, Lennart, Hartog, Nicholas L., Heimall, Jennifer, Hernandez-Molina, Gabriela, Horner, Caroline C., Hostoffer, Robert W., Hristova, Nataliya, Hsiao, Kuang-Chih^{Aff70, Aff71, Aff72}, Ivankovich-Escoto, Gabriela, Jaber, Faris, Jalil, Maaz, Jamee, Mahnaz, Jean, Tiffany, Jeong, Stephanie, Jhaveri, Devi, Jordan, Michael B.^{Aff3, Aff4, Aff77}, Joshi, Avni Y., Kalkat, Amanpreet, Kanarek, Henry J., Kellner, Erinn S., Khojah, Amer, Khoury, Ruby^{Aff3, Aff4}, Kokron, Cristina M., Kumar, Ashish^{Aff3, Aff4}, Lecerf, Kelsey, Lehman, Heather K., Leiding, Jennifer W., Lesmana, Harry, Lim, Xin Rong, Lopes, Joao Pedro, López, Ana Laura, Tarquini, Lucia, Lundgren, Ingrid S., Magnusson, Julieann, Marinho, Ana Karolina B. B., Marseglia, Gian Luigi, Martone, Giulia M., Mechtler, Annamaria G., Mendonca, Leonardo^{Aff56, Aff93}, Milner, Joshua D., Mustillo, Peter J., Naderi, Asal Gharib, Naviglio, Samuele, Nell, Jeremy, Niebur, Hana B., Notarangelo, Luigi, Oleastro, Matias, Ortega-López, María Claudia, Patel, Neil R., Petrovic, Gordana, Pignata, Claudio, Porras, Oscar, Prince, Benjamin T., Puck, Jennifer M., Qamar, Nashmia, Rabusin, Marco, Raje, Nikita, Regairaz, Lorena, Risma, Kimberly A., Ristagno, Elizabeth H., Routes, John, Roxo-Junior, Persio, Salemi, Negin, Scalchunes, Christopher, Schuval, Susan J., Seneviratne, Suranjith L., Shankar, Ashwin, Sherkat, Roya, Shin, Junghee Jenny, Siddiqi, Abeer, Signa, Sara, Sobh, Ali, Lima, Fabiana Mascarenhas Souza, Stenehjem, Kristen K., Tam, Jonathan S., Tang, Monica, Barros, Myrthes Toledo, Verbsky, James, Vergadi, Eleni, Voelker, Dayne H., Volpi, Stefano^{Aff123, Aff31}, Wall, Luke A., Wang, Christine, Williams, Kelli W., Wu, Eveline Y., Wu, Shan Shan^{Aff128, Aff129}, Zhou, Jessie J., Cook, Alexandria, Sullivan, Kathleen E., Marsh, Rebecca^{Aff3, Aff4}

المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 44(4)

المؤلفون: Correa-Jimenez, Oscar, Restrepo-Gualteros, Sonia, Nino, Gustavo^{Aff3, Aff4}, Cunningham-Rundles, Charlotte, Sullivan, Kathleen E., Fuleihan, Ramsay L., Gutierrez, Maria J.^{Aff8, IDs10875023015936_cor7}

المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 43(8):2208-2220

المؤلفون: Frusone, Valentina, Maurer, Kelly, Emanuel, Beverly S., McDonald-McGinn, Donna^{Aff3, Aff4}, Sullivan, Kathleen E.^{Aff2, IDs10875024016897_cor5}

المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 44(3)

المؤلفون: Mustillo, Peter J.^{Aff1, IDs10875024016553_cor1}, Sullivan, Kathleen E., Chinn, Ivan K., Notarangelo, Luigi D., Haddad, Elie, Davies, E. Graham, de la Morena, Maria Teresa, Hartog, Nicholas, Yu, Joyce E., Hernandez-Trujillo, Vivian P., Ip, Winnie, Franco, Jose, Gambineri, Eleonora^{Aff13, Aff14}, Hickey, Scott E., Varga, Elizabeth, Markert, M. Louise

المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 44(2)

المؤلفون: Rensing-Ehl, Anne, Neven, Bénédicte, Hadjadj, Jérôme, Hambleton, Sophie, Ronan Leahy, Timothy, Meesilpavikai, Kornvalee, Cunningham-Rundles, Charlotte, Dutmer, Cullen, Sharapova, Svetlana, Taskinen, Mervi, Chua, Ignatius, Hague, Rosie, Klemann, Christian, Kostyuchenko, Larysa, Morio, Tomohiro, Thatayatikom, Akaluck, Ozen, Ahmet, Scherbina, Anna, Bauer, Cindy, Flanagan, Sarah, Gambineri, Eleonora, Giovannini-Chami, Lisa, Heimall, Jennifer, Sullivan, Kathleen, Allenspach, Eric, Romberg, Neil, Deane, Sean, Prince, Benjamin, Rose, Melissa, Bohnsack, John, Mousallem, Talal, Jesudas, Rohith, Santos Vilela, Maria, OSullivan, Michael, Pachlopnik Schmid, Jana, Průhová, Štěpánka, Klocperk, Adam, Rees, Matthew, Su, Helen, Bahna, Sami, Baris, Safa, Bartnikas, Lisa, Chang Berger, Amy, Briggs, Tracy, Brothers, Shannon, Bundy, Vanessa, Grunebaum, Eyal, Haapaniemi, Emma, Hämäläinen, Sari, Heiskanen, Kaarina, Heiskanen-Kosma, Tarja, Hoffman, Hal, Gonzalez-Granado, Luis, Guerrerio, Anthony, Kainulainen, Leena, Kumar, Ashish, Lawrence, Monica, Levin, Carina, Martelius, Timi, Neth, Olaf, Olbrich, Peter, Palma, Alejandro, Patel, Niraj, Pozos, Tamara, Preece, Kahn, Lugo Reyes, Saúl, Russell, Mark, Schejter, Yael, Seroogy, Christine, Sinclair, Jan, Skevofilax, Effie, Suan, Daniel, Suez, Daniel, Szabolcs, Paul, Velasco, Helena, Warnatz, Klaus, Walkovich, Kelly, Worth, Austen, Seppänen, Mikko, Torgerson, Troy, Sogkas, Georgios, Ehl, Stephan, Tangye, Stuart, Cooper, Megan, Milner, Joshua, Forbes Satter, Lisa, Leiding, Jennifer, Vogel, Tiphanie, Santarlas, Valentine, Mhaskar, Rahul, Smith, Madison, Carisey, Alexandre, Vargas-Hernández, Alexander, Silva-Carmona, Manuel, Chandrakasan, Shanmuganathan, Christiansen, Mette, Cole, Theresa, Cook, Matthew, Desai, Mukesh, Fischer, Ute

المصدر: Journal of Allergy and Clinical Immunology. 151(4)

مصطلحات موضوعية: STAT3, autoimmunity, cytopenia, gain of function, immune dysregulation, immunodeficiency, lymphoproliferation, precision medicine, Child, Humans, Autoimmunity, Cohort Studies, Gain of Function Mutation, Immune System Diseases, Immunologic Deficiency Syndromes, Mutation, STAT3 Transcription Factor, Cell Proliferation, Lymphocytes

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2d2533sz

المؤلفون: Pai, Sung-Yun, Kapoor, Neena, Satter, Lisa, Buckley, Rebecca, OReilly, Richard, Chandra, Sharat, Bednarski, Jeffrey, Williams, Olatundun, Rayes, Ahmad, Moore, Theodore, Ebens, Christen, Davila Saldana, Blachy, Petrovic, Aleksandra, Chellapandian, Deepak, Cuvelier, Geoffrey, Vander Lugt, Mark, Caywood, Emi, Chandrakasan, Shanmuganathan, Eissa, Hesham, Goldman, Frederick, Shereck, Evan, Aquino, Victor, Desantes, Kenneth, Madden, Lisa, Miller, Holly, Yu, Lolie, Broglie, Larisa, Gillio, Alfred, Shah, Ami, Knutsen, Alan, Andolina, Jeffrey, Joshi, Avni, Szabolcs, Paul, Kapadia, Malika, Martinez, Caridad, Parrot, Roberta, Sullivan, Kathleen, Prockop, Susan, Abraham, Roshini, Thakar, Monica, Leiding, Jennifer, Haddad, Elie, Heimall, Jennifer, Dunn, Elizabeth, Pulsipher, Michael, Griffith, Linda, Notarangelo, Luigi, Dvorak, Christopher, Puck, Jennifer, Cowan, Morton, Kohn, Donald

المصدر: Journal of Allergy and Clinical Immunology. 151(2)

مصطلحات موضوعية: Omenn syndrome, SCID, Severe combined immunodeficiency, leaky/atypical SCID, newborn screening, typical SCID, Infant, Newborn, Humans, Infant, Severe Combined Immunodeficiency, Retrospective Studies, Prospective Studies, Homeodomain Proteins

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2661m4m2

المؤلفون: Hernandez-Trujillo, Vivian^{Aff1, Aff2}, Zhou, Chuan, Scalchunes, Christopher, Ochs, Hans D.^{Aff5, Aff6}, Sullivan, Kathleen E., Cunningham-Rundles, Charlotte, Fuleihan, Ramsay L., Bonilla, Francisco A., Petrovic, Aleksandra^{Aff5, Aff6}, Rawlings, David J.^{Aff5, Aff6, Aff11}, de la Morena, M. Teresa^{Aff5, IDs1087502301502x_cor11}

المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 43(6):1468-1477

المؤلفون: Cody, Ellen M.^{Aff1, IDs0046702305888z_cor1}, Wenderfer, Scott E.^{Aff2, Aff3}, Sullivan, Kathleen E., Kim, Alfred H. J., Figg, Wesley, Ghumman, Harneet, Qiu, Tingting, Huang, Bin^{Aff8, Aff9}, Devarajan, Prasad^{Aff9, Aff10}, Brunner, Hermine I.^{Aff7, Aff10}

المصدر: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association. 38(8):2679-2688