Real-world treatment patterns and outcomes in patients with primary hemophagocytic lymphohistiocytosis treated with emapalumab

Authors: Weinstein, Joanna, Hinson, Ashley P., Allen, Carl E., Eckstein, Olive S., Gulati, Nitya, Chandrakasan, Shanmuganathan, Haines, Hilary, Nakano, Taizo, Patel, Sachit A., Behrens, Edward M, Intzes, Stefanos, Hays, Allyson, Dávila Saldaña, Blachy, Jordan, Michael B., Zoref-Lorenz, Adi, Hanna, Rabi, Isakoff, Michael, Ray, Anish K., Rothman, Jennifer, Tandra, Anand, Cooper, Robert, Leiding, Jennifer W., Chien, May, Sarangi, Susmita, Gidvani, Diaz, Satwani, Prakesh, Carter, John, Henry, Michael, Gloude, Nicholas, Bhatt, Sima, Bhatla, Deepika, Draper, Lauren, Panigrahi, Arun, Hermiston, Michelle, Modica, Renee, Riskalla, Mona, Baker, Ashley, Ward, Brant, Behrens, Edward M., Henry, Michael M., Hermiston, Michelle L., Oladapo, Abiola, Pednekar, Priti, Sarangi, Susmita N., Walkovich, Kelly J., Yee, John D.

Source: In Blood Advances 14 May 2024 8(9):2248-2258

Allogeneic hematopoietic cell transplantation is effective for p47phox chronic granulomatous disease: A Primary Immune Deficiency Treatment Consortium study

Authors: 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, Murguía-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, Dávila Saldaña, Blachy J., 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.

Source: In The Journal of Allergy and Clinical Immunology May 2024 153(5):1423-1431

Clinical and functional spectrum of RAC2-related immunodeficiency

Authors: Donkó, Ágnes, Sharapova, Svetlana O., Kabat, Juraj, Ganesan, Sundar, Hauck, Fabian H., Bergerson, Jenna R. E., Marois, Louis, Abbott, Jordan, Moshous, Despina, Williams, Kelli W., Campbell, Nicholas, Martin, Paul L., Lagresle-Peyrou, Chantal, Trojan, Timothy, Kuzmenko, Natalia B., Deordieva, Ekaterina A., Raykina, Elena V., Abers, Michael S., Abolhassani, Hassan, Barlogis, Vincent, Milla, Carlos, Hall, Geoffrey, Mousallem, Talal, Church, Joseph, Kapoor, Neena, Cros, Guilhem, Chapdelaine, Hugo, Franco-Jarava, Clara, Lopez-Lerma, Ingrid, Miano, Maurizio, Leiding, Jennifer W., Klein, Christoph, Stasia, Marie José, Fischer, Alain, Hsiao, Kuang-Chih, Martelius, Timi, Sepännen, Mikko R. J., Barmettler, Sara, Walter, Jolan, Masmas, Tania N., Mukhina, Anna A., Falcone, Emilia Liana, Kracker, Sven, Shcherbina, Anna, Holland, Steven M., Leto, Thomas L., Hsu, Amy P.

Source: In Blood 11 April 2024 143(15):1476-1487

Relevance of lymphocyte proliferation to PHA in severe combined immunodeficiency (SCID) and T cell lymphopenia

Authors: Abraham, Roshini S., Basu, Amrita, Heimall, Jennifer R., Dunn, Elizabeth, Yip, Alison, Kapadia, Malika, Kapoor, Neena, Satter, Lisa Forbes, Buckley, Rebecca, O'Reilly, Richard, Cuvelier, Geoffrey D.E., Chandra, Sharat, Bednarski, Jeffrey, Chaudhury, Sonali, Moore, Theodore B., Haines, Hilary, Dávila Saldaña, Blachy J., Chellapandian, Deepakbabu, Rayes, Ahmad, Chen, Karin, Caywood, Emi, Chandrakasan, Shanmuganathan, Lugt, Mark Thomas Vander, Ebens, Christen, Teira, Pierre, Shereck, Evan, Miller, Holly, Aquino, Victor, Eissa, Hesham, Yu, Lolie C., Gillio, Alfred, Madden, Lisa, Knutsen, Alan, Shah, Ami J., DeSantes, Kenneth, Barnum, Jessie, Broglie, Larisa, Joshi, Avni Y., Kleiner, Gary, Dara, Jasmeen, Prockop, Susan, Martinez, Caridad, Mousallem, Talal, Oved, Joseph, Burroughs, Lauri, Marsh, Rebecca, Torgerson, Troy R., Leiding, Jennifer W., Pai, Sung Yun, Kohn, Donald B., Pulsipher, Michael A., Griffith, Linda M., Notarangelo, Luigi D., Cowan, Morton J., Puck, Jennifer, Dvorak, Christopher C., Haddad, Elie

Source: In Clinical Immunology April 2024 261

Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4+ IL-9–expressing cells

Authors: Rao, Geetha ^a, Mack, Corinne D. ^a, Nguyen, Tina ^{a, b}, Wong, Natalie ^a, Payne, Kathryn ^a, Worley, Lisa ^{a, b}, Gray, Paul E. ^{c, d}, Wong, Melanie ^{e, f}, Hsu, Peter ^{e, f}, Stormon, Michael O. ^e, Preece, Kahn ^g, Suan, Daniel ^a, O’Sullivan, Michael ^h, Blincoe, Annaliesse K. ⁱ, Sinclair, Jan ⁱ, Okada, Satoshi ^j, Hambleton, Sophie ^{k, l}, Arkwright, Peter D. ^m, Boztug, Kaan ^{n, o, p}, Stepensky, Polina ^q, Cooper, Megan A. ^r, Bezrodnik, Liliana ^{s, t}, Nadeau, Kari C. ^{u, v}, Abolhassani, Hassan ^{w, x}, Abraham, Roshini S. ^y, Seppänen, Mikko R.J. ^{z, aa, bb}, Béziat, Vivien ^{cc, dd, ee}, Bustamante, Jacinta ^{cc, dd, ee, ff}, Forbes Satter, Lisa R. ^gg, Leiding, Jennifer W. ^{hh, ii}, Meyts, Isabelle ^{jj, kk, ll}, Jouanguy, Emmanuelle ^{dd, ee, ff}, Boisson-Dupuis, Stéphanie ^{cc, dd, ee}, Uzel, Gulbu ^mm, Puel, Anne ^{cc, dd, ee}, Casanova, Jean-Laurent ^{cc, dd, ee, nn, oo}, Tangye, Stuart G. ^{a, b}, Ma, Cindy S. ^{a, b, ∗}

Source: In The Journal of Allergy and Clinical Immunology November 2024

Disseminated mycobacterial infections after tumor necrosis factor inhibitor use, revealing inborn errors of immunity

Authors: Squire, Jacqueline D., Libertin, Claudia R., Powers, Harry, Nelson, Jared, Brumble, Lisa, Laham, Federico R., Agharahimi, Anahita, Freeman, Alexandra F., Leiding, Jennifer W.

Source: International journal of infectious diseases. 131:162-165

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100189249415.0x000001&indx=1&recIds=ETOCvdc_100189249415.0x000001

Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

Authors: Leiding, Jennifer W., Vogel, Tiphanie P., Santarlas, Valentine G.J., Mhaskar, Rahul, Smith, Madison R., Carisey, Alexandre, Vargas-Hernández, Alexander, Silva-Carmona, Manuel, Heeg, Maximilian, Rensing-Ehl, Anne, Neven, Bénédicte, Hadjadj, Jérôme, Hambleton, Sophie, Ronan Leahy, Timothy, Meesilpavikai, Kornvalee, Cunningham-Rundles, Charlotte, Dutmer, Cullen M., Sharapova, Svetlana O., Taskinen, Mervi, Chua, Ignatius, Hague, Rosie, Klemann, Christian, Kostyuchenko, Larysa, Morio, Tomohiro, Thatayatikom, Akaluck, Ozen, Ahmet, Scherbina, Anna, Bauer, Cindy S., Flanagan, Sarah E., Gambineri, Eleonora, Giovannini-Chami, Lisa, Heimall, Jennifer, Sullivan, Kathleen E., Allenspach, Eric, Romberg, Neil, Deane, Sean G., Prince, Benjamin T., Rose, Melissa J., Bohnsack, John, Mousallem, Talal, Jesudas, Rohith, Santos Vilela, Maria Marluce Dos, O'Sullivan, Michael, Pachlopnik Schmid, Jana, Průhová, Štěpánka, Klocperk, Adam, Rees, Matthew, Su, Helen, Bahna, Sami, Baris, Safa, Bartnikas, Lisa M., Chang Berger, Amy, Briggs, Tracy A., Brothers, Shannon, Bundy, Vanessa, Chan, Alice Y., Chandrakasan, Shanmuganathan, Christiansen, Mette, Cole, Theresa, Cook, Matthew C., Desai, Mukesh M., Fischer, Ute, Fulcher, David A., Gallo, Silvanna, Gauthier, Amelie, Gennery, Andrew R., Gonçalo Marques, José, Gottrand, Frédéric, Grimbacher, Bodo, Grunebaum, Eyal, Haapaniemi, Emma, Hämäläinen, Sari, Heiskanen, Kaarina, Heiskanen-Kosma, Tarja, Hoffman, Hal M., Gonzalez-Granado, Luis Ignacio, Guerrerio, Anthony L., Kainulainen, Leena, Kumar, Ashish, Lawrence, Monica G., Levin, Carina, Martelius, Timi, Neth, Olaf, Olbrich, Peter, Palma, Alejandro, Patel, Niraj C., Pozos, Tamara, Preece, Kahn, Lugo Reyes, Saúl Oswaldo, Russell, Mark A., Schejter, Yael, Seroogy, Christine, Sinclair, Jan, Skevofilax, Effie, Suan, Daniel, Suez, Daniel, Szabolcs, Paul, Velasco, Helena, Warnatz, Klaus, Walkovich, Kelly, Worth, Austen, Seppänen, Mikko R.J., Torgerson, Troy R., Sogkas, Georgios, Ehl, Stephan, Tangye, Stuart G., Cooper, Megan A., Milner, Joshua D., Forbes Satter, Lisa R.

Source: Journal of allergy and clinical immunology. 151(4):1081-1095

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100187208857.0x000001&indx=1&recIds=ETOCvdc_100187208857.0x000001

Genotype, oxidase status, and preceding infection or autoinflammation do not affect allogeneic HCT outcomes for CGD

Authors: Leiding, Jennifer W., Arnold, Danielle E., Parikh, Suhag, Logan, Brent, Marsh, Rebecca A., Griffith, Linda M., Wu, Ruizhe, Kidd, Sharon, Mallhi, Kanwaldeep, Chellapandian, Deepak, Si Lim, Stephanie J., Grunebaum, Eyal, Falcone, E. Liana, Murguia-Favela, Luis, Grossman, Debbi, Prasad, Vinod K., Heimall, Jennifer R., Touzot, Fabien, Burroughs, Lauri M., Bleesing, Jack, Kapoor, Neena, Dara, Jasmeen, Williams, Olatundun, Kapadia, Malika, Oshrine, Benjamin R., Bednarski, Jeffrey J., Rayes, Ahmad, Chong, Hey, Cuvelier, Geoffrey D. E., Forbes Satter, Lisa R., Martinez, Caridad, Vander Lugt, Mark T., Yu, Lolie C., Chandrakasan, Shanmuganathan, Joshi, Avni, Prockop, Susan E., Dávila Saldaña, Blachy J., Aquino, Victor, Broglie, Larisa A., Ebens, Christen L., Madden, Lisa M., DeSantes, Kenneth, Milner, Jordan, Rangarajan, Hemalatha G., Shah, Ami J., Gillio, Alfred P., Knutsen, Alan P., Miller, Holly K., Moore, Theodore B., Graham, Pamela, Bauchat, Andrea, Bunin, Nancy J., Teira, Pierre, Petrovic, Aleksandra, Chandra, Sharat, Abdel-Azim, Hisham, Dorsey, Morna J., Birbrayer, Olga, 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.

Source: In Blood 14 December 2023 142(24):2105-2118

Intestinal microbiome and metabolome signatures in patients with chronic granulomatous disease

Authors: 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

Source: In The Journal of Allergy and Clinical Immunology December 2023 152(6):1619-1633

Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

Authors: Seidel, Markus G., Seppänen, Mikko R.J., Gennery, Andrew, Kanariou, Maria G., Tantou, Sofia, Grigoriadou, Sofia, Cericola, Gabriella, Hanitsch, Leif G., Scheibenbogen, Carmen, Hlaváčková, Eva O., Krivan, Gergely, McGuire, Frances K., Leahy, Timothy Ronan, Edgar, John David M., Bakhtiar, Shahrzad, Bader, Peter, Rohner, Geraldine Blanchard, Haerynck, Filomeen, Claes, Karlien, Lehmberg, Kai, Müller, Ingo, Farmand, Susan, Fasshauer, Maria, Graf, Dagmar, Neves, Joao Farela, Kostyuchenko, Larysa, Gonzalez-Granado, Luis Ignacio, Jeseňák, Miloš, Carrabba, Maria, Fabio, Giovanna, Pignata, Claudio, Giardino, Giuliana, Karadağ, Ilknur Kökçü, Yıldıran, Alişan, Hancioglu, Gonca, Králíčková, Pavlína, Steinmann, Sandra, Pietrucha, Barbara Maria, Gernert, Michael, Soomann, Maarja, Witte, Torsten, Markocsy, Adam, Wolska-Kusnierz, Beata, Randrianomenjanahary, Philippe, Rouger, Jérémie, Kostaridou, Stavroula, Zabara, Dariia V., Rodina, Yulia A., Shvets, Oksana A., Maccari, Maria Elena, Wolkewitz, Martin, Schwab, Charlotte, Lorenzini, Tiziana, Leiding, Jennifer W., Aladjdi, Nathalie, Abolhassani, Hassan, Abou-Chahla, Wadih, Aiuti, Alessandro, Azarnoush, Saba, Baris, Safa, Barlogis, Vincent, Barzaghi, Federica, Baumann, Ulrich, Bloomfield, Marketa, Bohynikova, Nadezda, Bodet, Damien, Boutboul, David, Bucciol, Giorgia, Buckland, Matthew S., Burns, Siobhan O., Cancrini, Caterina, Cathébras, Pascal, Cavazzana, Marina, Cheminant, Morgane, Chinello, Matteo, Ciznar, Peter, Coulter, Tanya I., D’Aveni, Maud, Ekwall, Olov, Eric, Zelimir, Eren, Efrem, Fasth, Anders, Frange, Pierre, Fournier, Benjamin, Garcia-Prat, Marina, Gardembas, Martine, Geier, Christoph, Ghosh, Sujal, Goda, Vera, Hammarström, Lennart, Hauck, Fabian, Heeg, Maximilian, Heropolitanska-Pliszka, Edyta, Hilfanova, Anna, Jolles, Stephen, Karakoc-Aydiner, Elif, Kindle, Gerhard R., Kiykim, Ayca, Klemann, Christian, Koletsi, Patra, Koltan, Sylwia, Kondratenko, Irina, Körholz, Julia, Krüger, Renate, Jeziorski, Eric, Levy, Romain, Le Guenno, Guillaume, Lefevre, Guillaume, Lougaris, Vassilios, Marzollo, Antonio, Mahlaoui, Nizar, Malphettes, Marion, Meinhardt, Andrea, Merlin, Etienne, Meyts, Isabelle, Milota, Tomas, Moreira, Fernando, Moshous, Despina, Mukhina, Anna, Neth, Olaf, Neubert, Jennifer, Neven, Benedicte, Nieters, Alexandra, Nove-Josserand, Raphaele, Oksenhendler, Eric, Ozen, Ahmet, Olbrich, Peter, Perlat, Antoinette, Pac, Malgorzata, Schmid, Jana Pachlopnik, Pacillo, Lucia, Parra-Martinez, Alba, Paschenko, Olga, Pellier, Isabelle, Sefer, Asena Pinar, Plebani, Alessandro, Plantaz, Dominique, Prader, Seraina, Raffray, Loic, Ritterbusch, Henrike, Riviere, Jacques G., Rivalta, Beatrice, Rusch, Stephan, Sakovich, Inga, Savic, Sinisa, Scheible, Raphael, Schleinitz, Nicolas, Schuetz, Catharina, Schulz, Ansgar, Sediva, Anna, Semeraro, Michaela, Sharapova, Svetlana O., Shcherbina, Anna, Slatter, Mary A., Sogkas, Georgios, Soler-Palacin, Pere, Speckmann, Carsten, Stephan, Jean-Louis, Suarez, Felipe, Tommasini, Alberto, Trück, Johannes, Uhlmann, Annette, van Aerde, Koen J., van Montfrans, Joris, von Bernuth, Horst, Warnatz, Klaus, Williams, Tony, Worth, Austen J.J., Ip, Winnie, Picard, Capucine, Catherinot, Emilie, Nademi, Zohreh, Grimbacher, Bodo, Forbes Satter, Lisa R., Kracker, Sven, Chandra, Anita, Condliffe, Alison M., Ehl, Stephan

Source: In The Journal of Allergy and Clinical Immunology October 2023 152(4):984-996

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 Deficiency Treatment Consortium

Authors: 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 D, Aquino, Victor M, Shereck, Evan B, Moore, Theodore B, Caywood, Emi H, Lugt, Mark T Vander, 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 D, Quigg, Troy C, Parikh, Suhag, Shenoy, Shalini, Seroogy, Christine, Rubin, Tamar, Decaluwe, Hélène, 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 ^*

Source: In The Lancet 8-14 July 2023 402(10396):129-140

Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

Authors: Aleshkevich, Svetlana, Allende, Luis M., Atkinson, T. Prescott, Atschekzei, Faranaz, Aydemir, Sezin, Aygunes, Utku, Barlogis, Vincent, Baumann, Ulrich, Belko, John, Bezrodnik, Liliana, Biebl, Ariane, Broderick, Lori, Bunin, Nancy J., Caldirola, Maria Soledad, Castelle, Martin, Celmeli, Fatih, Charbonnier, Louis-Marie, Chatila, Talal A., Chellapandian, Deepak, Cokugras, Haluk, Conlon, Niall, Cox, Fionnuala, Crickx, Etienne, Dalgic, Buket, ASH Dalm, Virgil, Danielian, Silvia, Dominguez-Pinilla, Nerea, Dujovny, Tal, Ebbo, Mikael, Eken, Ahmet, Esty, Brittany, Fabre, Alexandre, Fischer, Alain, Hannibal, Mark, Huppert, Laura, Ikeda, Marc D., Jolles, Stephen, Jolly, Kent W., Jones, Neil, Kanariou, Maria, Karakoc-Aydiner, Elif, Karamantziani, Theoni, Kelaidi, Charikleia, Keogan, Mary, Pac Kisaarslan, Ayşenur, Kiykim, Ayca, Klocperk, Adam, Kotsonis, Kosmas, Kuzmenko, Natalia, Leroy, Sylvie, Lianou, Dimitra, Longhurst, Hilary, Lorenz, Myriam Ricarda, Maffucci, Patrick, Manson, Ania, Marchal, Sarah, Malphettes, Marion, Marega, Lia Furlaneto, Mauracher, Andrea A., Meesilpavikai, Kornvalee, Miller, Holly, Mombourquette, Joy, Morgan, Noel G., Mukhina, Anna, Nathalie, Aladjidi, Nelken, Brigitte, Nolan, David, Norlin, Anna-Carin, Oleastro, Matias, Ozcan, Alper, Pasquet, Marlene, Pegler, José Roberto, Picard, Capucine, Polychronopoulou, Sophia, Quartier, Pierre, Quesada, Juan Francisco, Ramakers, Jan, Randall, Katrina L., Rao, V. Koneti, Remiker, Allison, Resin, Geraldine, Richmond, Peter, Rieux-Laucat, Frederic, Rodina, Yulia, Rohrlich, Pierre, Sachs, Johnathan, Sakovich, Inga, Santarlas, Christopher, Sari, Sinan, Sawicki, Gregory, Schauer, Uwe, Scheffler Mendoza, Selma C., Schvetz, Oksana, Schmidt, Reinhold Ernst, Schwarz, Klaus, Sediva, Anna, Sinclair, Kyle, Slatter, Mary, Sleasman, John, Stergiou, Katerina, Suratannon, Narissara, Tanita, Kay, Thompson, Grace, Travis, Stephen, Trojan, Timothy, Tsinti, Maria, Unal, Ekrem, Urdinez, Luciano, Vazquez-Gomez, Felisa, Villa, Mariana, Weinrich, Michael, Weiss, Mitchell J., Wright, Benjamin, Yilmaz, Ebru, Zachova, Radana, Zhang, Yu, Leiding, Jennifer W., Vogel, Tiphanie P., Santarlas, Valentine G.J., Mhaskar, Rahul, Smith, Madison R., Carisey, Alexandre, Vargas-Hernández, Alexander, Silva-Carmona, Manuel, Heeg, Maximilian, Rensing-Ehl, Anne, Neven, Bénédicte, Hadjadj, Jérôme, Hambleton, Sophie, Ronan Leahy, Timothy, Cunningham-Rundles, Charlotte, Dutmer, Cullen M., Sharapova, Svetlana O., Taskinen, Mervi, Chua, Ignatius, Hague, Rosie, Klemann, Christian, Kostyuchenko, Larysa, Morio, Tomohiro, Thatayatikom, Akaluck, Ozen, Ahmet, Scherbina, Anna, Bauer, Cindy S., Flanagan, Sarah E., Gambineri, Eleonora, Giovannini-Chami, Lisa, Heimall, Jennifer, Sullivan, Kathleen E., Allenspach, Eric, Romberg, Neil, Deane, Sean G., Prince, Benjamin T., Rose, Melissa J., Bohnsack, John, Mousallem, Talal, Jesudas, Rohith, Santos Vilela, Maria Marluce Dos, O’Sullivan, Michael, Pachlopnik Schmid, Jana, Průhová, Štěpánka, Rees, Matthew, Su, Helen, Bahna, Sami, Baris, Safa, Bartnikas, Lisa M., Chang Berger, Amy, Briggs, Tracy A., Brothers, Shannon, Bundy, Vanessa, Chan, Alice Y., Chandrakasan, Shanmuganathan, Christiansen, Mette, Cole, Theresa, Cook, Matthew C., Desai, Mukesh M., Fischer, Ute, Fulcher, David A., Gallo, Silvanna, Gauthier, Amelie, Gennery, Andrew R., Gonçalo Marques, José, Gottrand, Frédéric, Grimbacher, Bodo, Grunebaum, Eyal, Haapaniemi, Emma, Hämäläinen, Sari, Heiskanen, Kaarina, Heiskanen-Kosma, Tarja, Hoffman, Hal M., Gonzalez-Granado, Luis Ignacio, Guerrerio, Anthony L., Kainulainen, Leena, Kumar, Ashish, Lawrence, Monica G., Levin, Carina, Martelius, Timi, Neth, Olaf, Olbrich, Peter, Palma, Alejandro, Patel, Niraj C., Pozos, Tamara, Preece, Kahn, Lugo Reyes, Saúl Oswaldo, Russell, Mark A., Schejter, Yael, Seroogy, Christine, Sinclair, Jan, Skevofilax, Effie, Suan, Daniel, Suez, Daniel, Szabolcs, Paul, Velasco, Helena, Warnatz, Klaus, Walkovich, Kelly, Worth, Austen, Seppänen, Mikko R.J., Torgerson, Troy R., Sogkas, Georgios, Ehl, Stephan, Tangye, Stuart G., Cooper, Megan A., Milner, Joshua D., Forbes Satter, Lisa R.

Source: In The Journal of Allergy and Clinical Immunology April 2023 151(4):1081-1095

The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions

Authors: 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., Davila Saldana, Blachy J., 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.

Source: In The Journal of Allergy and Clinical Immunology February 2023 151(2):547-555

NOX2 deficiency enhances priming and activation of the NLRP3 inflammasome

Authors: Monjarret, Blandine, Shour, Sara, Benyoucef, Aissa, Heckel, Emilie, Marchitto, Lorie, Leiding, Jennifer W., Cros, Guilhem, Fernandez, Isabel, Joyal, Jean-Sebastien, Touzot, Fabien

Source: In The Journal of Allergy and Clinical Immunology September 2023

STAT3 gain-of-function mutations connect leukemia with autoimmune disease by pathological NKG2Dhi CD8+ T cell dysregulation and accumulation

Authors: Masle-Farquhar, Etienne, Jackson, Katherine J.L., Peters, Timothy J., Al-Eryani, Ghamdan, Singh, Mandeep, Payne, Kathryn J., Rao, Geetha, Avery, Danielle T., Apps, Gabrielle, Kingham, Jennifer, Jara, Christopher J., Skvortsova, Ksenia, Swarbrick, Alexander, Ma, Cindy S., Suan, Daniel, Uzel, Gulbu, Chua, Ignatius, Leiding, Jennifer W., Heiskanen, Kaarina, Preece, Kahn, Kainulainen, Leena, O’Sullivan, Michael, Cooper, Megan A., Seppänen, Mikko R.J., Mustjoki, Satu, Brothers, Shannon, Vogel, Tiphanie P., Brink, Robert, Tangye, Stuart G., Reed, Joanne H., Goodnow, Christopher C.

Source: In Immunity 13 December 2022 55(12):2386-2404

Event Free Survival in Severe Combined Immune Deficiency (SCID) Infants after Conditioned Umbilical Cord Blood Transplantation (UCBT) Benefits from Omitting Serotherapy

Authors: Martinez, Caridad, Logan, Brent, Liu, Xuerong, Dvorak, Christopher C., Madden, Lisa, Molinari, Lyndsay, Cowan, Morton J., Pai, Sung-Yun, Haddad, Elie, Puck, Jennifer, Kohn, Donald B., Griffith, Linda M., Pulsipher, Michael, Leiding, Jennifer W., Notarangelo, Luigi D., Torgerson, Troy, Marsh, Rebecca A., Cuvelier, Geoff D.E., Prockop, Susan, Buckley, Rebecca H., Kuo, Caroline Y., Yip, Alison, Hershfield, Michael S., Parrott, Roberta E, Ebens, Christen L., Moore, Theodore B., O'Reilly, Richard J., Kapadia, Malika, Kapoor, Neena, Satter, Lisa Forbes, Burroughs, Lauri M., Petrovic, Aleksandra, Thakar, Monica S., Chellapandian, Deepak, Heimall, Jennifer R., Shyr, David C., Bednarski, Jeffrey J, Rayes, Ahmad, Chandrakasan, Shanmuganathan, Quigg, Troy C., Davila, Blachy J, DeSantes, Kenneth, Eissa, Hesham, Goldman, Frederick, Rozmus, Jacob, Shah, Ami J, Lugt, Mark Vander, Keller, Michael D., Sullivan, Kathleen E., Jyonouchi, Soma, Seroogy, Christine, Decaluwe, Helene, Teira, Pierre, Knutsen, Alan P., Kletzel, Morris, Aquino, Victor, Davis, Jeffrey H, Szabolcs, Paul

Source: Transplantation and Cellular Therapy. 29(S):S91-S93

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100180674997.0x000001&indx=1&recIds=ETOCvdc_100180674997.0x000001

Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC

Authors: Cuvelier, Geoffrey D.E., Logan, Brent R., Prockop, Susan E., Buckley, Rebecca H., Kuo, Caroline Y., Griffith, Linda M., Liu, Xuerong, Yip, Alison, Hershfield, Michael S., Ayoub, Paul G., Moore, Theodore B., Dorsey, Morna J., O'Reilly, Richard J., Kapoor, Neena, Pai, Sung-Yun, Kapadia, Malika, Ebens, Christen L., Forbes Satter, Lisa R., Burroughs, Lauri M., Petrovic, Aleksandra, Chellapandian, Deepak, Heimall, Jennifer, Shyr, David C., Rayes, Ahmad, Bednarski, Jeffrey J., Chandra, Sharat, Chandrakasan, Shanmuganathan, Gillio, Alfred P., Madden, Lisa, Quigg, Troy C., Caywood, Emi H., Dávila Saldaña, Blachy J., DeSantes, Kenneth, Eissa, Hesham, Goldman, Frederick D., Rozmus, Jacob, Shah, Ami J., Vander Lugt, Mark T., Thakar, Monica S., Parrott, Roberta E., Martinez, Caridad, Leiding, Jennifer W., Torgerson, Troy R., Pulsipher, Michael A., Notarangelo, Luigi D., Cowan, Morton J., Dvorak, Christopher C., Haddad, Elie, Puck, Jennifer M., Kohn, Donald B.

Source: Blood. 140(7):685-705

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100183235624.0x000001&indx=1&recIds=ETOCvdc_100183235624.0x000001

STAT3 Gain-of-Function Mutations Underlie Deficiency in Human Nonclassical CD16^+ Monocytes and CD141^+ Dendritic Cells

Authors: Korenfeld, Daniel, Roussak, Kate, Dinkel, Sabrina, Vogel, Tiphanie P., Pollack, Henry, Levy, Joseph, Leiding, Jennifer W., Milner, Joshua, Cooper, Megan, Klechevsky, Eynav

Source: Journal of immunology. 207(10):2423-2432

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Precision Therapy for the Treatment of Primary Immunodysregulatory Diseases

Authors: Chellapandian, Deepak, Chitty-Lopez, Maria, Leiding, Jennifer W.

Source: In Immunology and Allergy Clinics of North America August 2020 40(3):511-526

Hematopoietic Cell Transplantation in 240 Patients with Chronic Granulomatous Disease: A Pidtc Report

Authors: Arnold, Danielle E., Parikh, Suhag, Logan, Brent, Marsh, Rebecca, Griffith, Linda M., Wu, Ruizhe, Mallhi, Kanwaldeep, Chellapandian, Deepak, Si, Stephanie, Grunebaum, Eyal, Broglie, Larisa, Prasad, Vinod K., Heimall, Jennifer, Bunin, Nancy J., Teira, Pierre, Touzot, Fabien, Burroughs, Lauri M., Petrovic, Aleksandra, Bleesing, Jack J., Chandra, Sharat, Kapoor, Neena, Dara, Jasmeen, Dorsey, Morna, Williams, Olatundun, Kapadia, Malika, Bednarski, Jeffrey, Rayes, Ahmad, Chen, Karin, Chong, Hey, Cuvelier, Geoff D.E., Forbes, Lisa R., Martinez, Caridad, Vander Lugt, Mark T., Yu, Lolie C., Chandrakasan, Shanmuganathan, Joshi, Avni, Prockop, Susan E., Davila Saldana, Blachy J., Aquino, Victor, Ebens, Christen L., Madden, Lisa, DeSantes, Kenneth, Milner, Jordan, Rangarajan, Hemalatha G., Shah, Ami J, Gillio, Alfred P., Knutsen, Alan P., Miller, Holly K., Moore, Theodore B., Wright, Nicola, Cowan, Morton J., Dvorak, Christopher C., Haddad, Elie, Kohn, Donald B., Notarangelo, Luigi D., Pai, Sung-Yun, Puck, Jennifer, Pulsipher, Mike A., Torgerson, Troy, Malech, Harry L., Kang, Elizabeth M., Leiding, Jennifer W.

Source: Transplantation and Cellular Therapy. 28(S):S101-S103

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100157891201.0x000001&indx=1&recIds=ETOCvdc_100157891201.0x000001