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Assessment of TREC-based NBS SCID reporting practices for harmonization of results and interpretation: a global survey Aluri, Jahnavi; Kistler, Isaac; Gaviglio, Amy; Webster, Dianne; Taylor, Jennifer; Lawrence, Monica G.; Pham-Huy, Anne; Yu, Joyce E.; Kobrynski, Lisa; Heimall, Jennifer R.; Puck, Jennifer; Van Der Burg, Mirjam; Hauck, Fabian; Abraham, Roshini S. Share Save
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Disruption of the moonlighting function of CTF18 in a patient with T-lymphopenia Sertori, Robert; Truong, Billy; Singh, Manoj K.; Shinton, Susan; Price, Rachael; Sharo, Andrew; Shultes, Paulameena; Sunderam, Uma; Rana, Sadhna; Srinivasan, Rajgopal; Datta, Sutapa; Font-Burgada, Joan; Brenner, Steven E.; Puck, Jennifer M.; Wiest, David L. Share Save
A mutant BCL11B-N440K protein interferes with BCL11A function during T lymphocyte and neuronal development Okuyama, Kazuki; Yamashita, Motoi; Koumoundourou, Artemis; Wiegreffe, Christoph; Ohno-Oishi, Michiko; Murphy, Samuel J. H.; Zhao, Xin; Yoshida, Hideyuki; Ebihara, Takashi; Satoh-Takayama, Naoko; Kojo, Satoshi; Ohno, Hiroshi; Morio, Tomohiro; Wu, Yibo; Puck, Jennifer; Xue, Hai-Hui; Britsch, Stefan; Taniuchi, Ichiro Share Save
Allogeneic hematopoietic cell transplantation is effective for p47phox chronic granulomatous disease: A Primary Immune Deficiency Treatment Consortium study Grunebaum, Eyal; Arnold, Danielle E.; Logan, Brent; Parikh, Suhag; Marsh, Rebecca A.; Griffith, Linda M.; Mallhi, Kanwaldeep; Chellapandian, Deepak; Lim, Stephanie Si; Deal, Christin L.; Kapoor, Neena; Murguia-Favela, Luis; Falcone, Emilia Liana; Prasad, Vinod K.; Touzot, Fabien; Bleesing, Jack J.; Chandrakasan, Shanmuganathan; Heimall, Jennifer R.; Bednarski, Jeffrey J.; Broglie, Larisa A.; Chong, Hey Jin; Kapadia, Malika; Prockop, Susan; Saldana, Blachy J. Davila; Schaefer, Edo; Bauchat, Andrea L.; Teira, Pierre; Chandra, Sharat; Parta, Mark; Cowan, Morton J.; Dvorak, Christopher C.; Haddad, Elie; Kohn, Donald B.; Notarangelo, Luigi D.; Pai, Sung-Yun; Puck, Jennifer M.; Pulsipher, Michael A.; Torgerson, Troy R.; Malech, Harry L.; Kang, Elizabeth M.; Leiding, Jennifer W. Share Save
COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report McDonnell, John; Cousins, Kimberley; Younger, M. Elizabeth M.; Lane, Adam; Abolhassani, Hassan; Abraham, Roshini S.; Al-Tamemi, Salem; Aldave-Becerra, Juan Carlos; Al-Faris, Eman Hesham; Alfaro-Murillo, Alberto; Alkhater, Suzan A.; 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; Boesing, John; Bouso, Carolina; Brodszki, Nicholas; Cabanillas, Diana; Cady, Carol; Callahan, Meghan A.; Caorsi, Roberta; Carbone, Javier; Carrabba, Maria; Castagnoli, Riccardo; Catanzaro, Jason R.; Chan, Samantha; Chandra, Sharat; 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.; Fuleihan, Ramsay L.; Giardino, Giuliana; Galant-Swafford, Jessica; Gambineri, Eleonora; Garabedian, Elizabeth K.; Geerlinks, Ashley V.; Goudouris, Ekaterini; Grecco, Octavio; Pan-Hammarstrom, Qiang; Khani, Hedieh Haji Khodaverdi; Hammarstrom, Lennart; Hartog, Nicholas L.; Heimall, Jennifer; Hernandez-Molina, Gabriela; Horner, Caroline C.; Hostoffer, Robert W.; Hristova, Nataliya; Hsiao, Kuang-Chih; Ivankovich-Escoto, Gabriela; Jaber, Faris; Jalil, Maaz; Jamee, Mahnaz; Jean, Tiffany; Jeong, Stephanie; Jhaveri, Devi; Jordan, Michael B.; Joshi, Avni Y.; Kalkat, Amanpreet; Kanarek, Henry J.; Kellner, Erinn S.; Khojah, Amer; Khoury, Ruby; Kokron, Cristina M.; Kumar, Ashish; Lecerf, Kelsey; Lehman, Heather K.; Leiding, Jennifer W.; Lesmana, Harry; Lim, Xin Rong; Lopes, Joao Pedro; Lopez, 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; Milner, Joshua D.; Mustillo, Peter J.; Naderi, Asal Gharib; Naviglio, Samuele; Nell, Jeremy; Niebur, Hana B.; Notarangelo, Luigi; Oleastro, Matias; Ortega-Lopez, Maria 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; Wall, Luke A.; Wang, Christine; Williams, Kelli W.; Wu, Eveline Y.; Wu, Shan Shan; Zhou, Jessie J.; Cook, Alexandria; Sullivan, Kathleen E.; Marsh, Rebecca Share Save
Posttransplantation late complications increase over time for patients with SCID: A Primary Immune Deficiency Treatment Consortium (PIDTC) landmark study Eissa, Hesham; Thakar, Monica S.; Shah, Ami J.; Logan, Brent R.; Griffith, Linda M.; Dong, Huaying; Parrott, Roberta E.; O'Reilly, Richard J.; Dara, Jasmeen; Kapoor, Neena; Satter, Lisa Forbes; Chandra, Sharat; Kapadia, Malika; Chandrakasan, Shanmuganathan; Knutsen, Alan; Jyonouchi, Soma C.; Molinari, Lyndsay; Rayes, Ahmad; Ebens, Christen L.; Teira, Pierre; Saldana, Blachy J. Davila; Burroughs, Lauri M.; Chaudhury, Sonali; Chellapandian, Deepak; Gillio, Alfred P.; Goldman, Fredrick; Malech, Harry L.; DeSantes, Kenneth; Cuvelier, Geoff D. E.; Rozmus, Jacob; Quinones, Ralph; Yu, Lolie C.; Broglie, Larisa; Aquino, Victor; Shereck, Evan; Moore, Theodore B.; Vander Lugt, Mark T.; Mousallem, Talal I.; Oved, Joeseph H.; Dorsey, Morna; Abdel-Azim, Hisham; Martinez, Caridad; Bleesing, Jacob H.; Prockop, Susan; Kohn, Donald B.; Bednarski, Jeffrey J.; Leiding, Jennifer; Marsh, Rebecca A.; Torgerson, Troy; Notarangelo, Luigi D.; Pai, Sung-Yun; Pulsipher, Michael A.; Puck, Jennifer M.; Dvorak, Christopher C.; Haddad, Elie; Buckley, Rebecca H.; Cowan, Morton J.; Heimall, Jennifer Share Save
Intestinal microbiome and metabolome signatures in patients with chronic granulomatous disease Chandrasekaran, Prabha; Han, Yu; Zerbe, Christa S.; Heller, Theo; DeRavin, Suk See; Kreuzberg, Samantha A.; Marciano, Beatriz E.; Siu, Yik; Jones, Drew R.; Abraham, Roshini S.; Stephens, Michael C.; Tsou, Amy M.; Snapper, Scott; Conlan, Sean; Subramanian, Poorani; Quinones, Mariam; Grou, Caroline; Calderon, Virginie; Deming, Clayton; Leiding, Jennifer W.; Arnold, Danielle E.; Logan, Brent R.; Griffith, Linda M.; Petrovic, Aleksandra; Mousallem, Talal I.; Kapoor, Neena; Heimall, Jennifer R.; Barnum, Jessie L.; Kapadia, Malika; Wright, Nicola; Rayes, Ahmad; Chandra, Sharat; Broglie, Larisa A.; Chellapandian, Deepak; Deal, Christin L.; Grunebaum, Eyal; Lim, Stephanie Si; Mallhi, Kanwaldeep; Marsh, Rebecca A.; Murguia-Favela, Luis; Parikh, Suhag; Touzot, Fabien; Cowan, Morton J.; Dvorak, Christopher C.; Haddad, Elie; Kohn, Donald B.; Notarangelo, Luigi D.; Pai, Sung-Yun; Puck, Jennifer M.; Pulsipher, Michael A.; Torgerson, Troy R.; Kang, Elizabeth M.; Malech, Harry L.; Segre, Julia A.; Bryant, Clare E.; Holland, Steven M.; Falcone, Emilia Liana Share Save
Integrome signatures of lentiviral gene therapy for SCID-X1 patients Yan, Koon-Kiu; Condori, Jose; Ma, Zhijun; Metais, Jean-Yves; Ju, Bensheng; Ding, Liang; Dhungana, Yogesh; Palmer, Lance E.; Langfitt, Deanna M.; Ferrara, Francesca; Throm, Robert; Shi, Hao; Risch, Isabel; Bhatara, Sheetal; Shaner, Bridget; Lockey, Timothy D.; Talleur, Aimee C.; Easton, John; Meagher, Michael M.; Puck, Jennifer M.; Cowan, Morton J.; Zhou, Sheng; Mamcarz, Ewelina; Gottschalk, Stephen; Yu, Jiyang Share Save
Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune DeficiencyTreatment Consortium Thakar, Monica S.; Logan, Brent R.; Puck, Jennifer M.; Dunn, Elizabeth A.; Buckley, Rebecca H.; Cowan, Morton J.; O'Reilly, Richard J.; Kapoor, Neena; Satter, Lisa Forbes; Pai, Sung-Yun; Heimall, Jennifer; Chandra, Sharat; Ebens, Christen L.; Chellapandian, Deepak; Williams, Olatundun; Burroughs, Lauri M.; Saldana, Blachy Davila; Rayes, Ahmad; Madden, Lisa M.; Chandrakasan, Shanmuganathan; Bednarski, Jeffrey J., II; Desantes, Kenneth B.; Cuvelier, Geoffrey D. E.; Teira, Pierre; Gillio, Alfred P.; Eissa, Hesham; Knutsen, Alan P.; Goldman, Frederick; Aquino, Victor M.; Shereck, Evan B.; Moore, Theodore B.; Caywood, Emi H.; Vander Lugt, Mark T.; Rozmus, Jacob; Broglie, Larisa; Yu, Lolie C.; Shah, Ami J.; Andolina, Jeffrey R.; Liu, Xuerong; Parrott, Roberta E.; Dara, Jasmeen; Prockop, Susan; Martinez, Caridad A.; Kapadia, Malika; Jyonouchi, Soma C.; Sullivan, Kathleen E.; Bleesing, Jack J.; Chaudhury, Sonali; Petrovic, Aleksandra; Keller, Michael; Quigg, Troy C.; Parikh, Suhag; Shenoy, Shalini; Seroogy, Christine; Rubin, Tamar; Decaluwe, Helene; Routes, John M.; Torgerson, Troy R.; Leiding, Jennifer W.; Pulsipher, Michael A.; Kohn, Donald B.; Griffith, Linda M.; Haddad, Elie; Dvorak, Christopher C.; Notarangelo, Luigi D. Share Save
The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions Dvorak, Christopher C.; Haddad, Elie; Heimall, Jennifer; Dunn, Elizabeth; Buckley, Rebecca H.; Kohn, Donald B.; Cowan, Morton J.; Pai, Sung-Yun; Griffith, Linda M.; Cuvelier, Geoffrey D. E.; Eissa, Hesham; Shah, Ami J.; O'Reilly, Richard J.; Pulsipher, Michael A.; Wright, Nicola A. M.; Abraham, Roshini S.; Satter, Lisa Forbes; Notarangelo, Luigi D.; Puck, Jennifer M. Share Save
The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions Dvorak, Christopher C.; Haddad, Elie; Heimall, Jennifer; Dunn, Elizabeth; Cowan, Morton J.; Pai, Sung-Yun; Kapoor, Neena; Satter, Lisa Forbes; Buckley, Rebecca H.; O'Reilly, Richard J.; Chandra, Sharat; Bednarski, Jeffrey J.; Williams, Olatundun; Rayes, Ahmad; Moore, Theodore B.; Ebens, Christen L.; Saldana, Blachy J. Davila; Petrovic, Aleksandra; Chellapandian, Deepak; Cuvelier, Geoffrey D. E.; Vander Lugt, Mark T.; Caywood, Emi H.; Chandrakasan, Shanmuganathan; Eissa, Hesham; Goldman, Frederick D.; Shereck, Evan; Aquino, Victor M.; Desantes, Kenneth B.; Madden, Lisa M.; Miller, Holly K.; Yu, Lolie; Broglie, Larisa; Gillio, Alfred; Shah, Ami J.; Knutsen, Alan P.; Andolina, Jeffrey P.; Joshi, Avni Y.; Szabolcs, Paul; Kapadia, Malika; Martinez, Caridad A.; Parrot, Roberta E.; Sullivan, Kathleen E.; Prockop, Susan E.; Abraham, Roshini S.; Thakar, Monica S.; Leiding, Jennifer W.; Kohn, Donald B.; Pulsipher, Michael A.; Griffith, Linda M.; Notarangelo, Luigi D.; Puck, Jennifer M. Share Save
Aberrant T-cell exhaustion in severe combined immunodeficiency survivors with poor T-cell reconstitution after transplantation Labrosse, Roxane; Boufaied, Ines; Bourdin, Benoite; Gona, Saideep; Randolph, Haley E.; Logan, Brent R.; Bourbonnais, Sara; Berthe, Chloe; Chan, Wendy; Buckley, Rebecca H.; Parrott, Roberta E.; Cuvelier, Geoffrey D. E.; Kapoor, Neena; Chandra, Sharat; Saldana, Blachy J. Davila; Eissa, Hesham; Goldman, Fred D.; Heimall, Jennifer; O'Reilly, Richard; Chaudhury, Sonali; Kolb, Edward A.; Shenoy, Shalini; Griffith, Linda M.; Pulsipher, Michael; Kohn, Donald B.; Notarangelo, Luigi D.; Pai, Sung-Yun; Cowan, Morton J.; Dvorak, Christopher C.; Haddad, Ellie; Puck, Jennifer M.; Barreiro, Luis B.; Decaluwe, Helene Share Save
Lentiviral Gene Therapy for Artemis-Deficient SCID Cowan, Morton J. J.; Yu, Jason; Facchino, Janelle; Fraser-Browne, Carol; Sanford, Ukina; Kawahara, Misako; Dara, Jasmeen; Long-Boyle, Janel; Oh, Jess; Chan, Wendy; Chag, Shivali; Broderick, Lori; Chellapandian, Deepak; Decaluwe, Helene; Golski, Catherine; Hu, Diana; Kuo, Caroline Y. Y.; Miller, Holly K. K.; Petrovic, Aleksandra; Currier, Robert; Hilton, Joan F. F.; Punwani, Divya; Dvorak, Christopher C. C.; Malech, Harry L. L.; McIvor, R. Scott; Puck, Jennifer M. M. Share Save
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The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity Bousfiha, Aziz; Moundir, Abderrahmane; Tangye, Stuart G.; Picard, Capucine; Jeddane, Leila; Al-Herz, Waleed; Rundles, Charlotte C.; Franco, Jose Luis; Holland, Steven M.; Klein, Christoph; Morio, Tomohiro; Oksenhendler, Eric; Puel, Anne; Puck, Jennifer; Seppanen, Mikko R. J.; Somech, Raz; Su, Helen C.; Sullivan, Kathleen E.; Torgerson, Troy R.; Meyts, Isabelle Share Save
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