Treatment Strategies for Deficiency of Adenosine Deaminase 2 von Ombrello, Amanda K, Qin, Jing, Hoffmann, Patrycja M, Kumar, Parag, Stone, Deborah, Jones, Anne, Romeo, Tina, Barham, Beverly, Pinto-Patarroyo, Gineth, Toro, Camilo, Soldatos, Ariane, Zhou, Qing, Deuitch, Natalie, Aksentijevich, Ivona, Sheldon, Sherry L, Kelly, Susan, Man, Ada, Barron, Karyl, Hershfield, Michael, Flegel, Willy A, Kastner, Daniel L

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Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease von Zhou, Qing, Yu, Xiaomin, Demirkaya, Erkan, Deuitch, Natalie, Stone, Deborah, Tsai, Wanxia Li, Kuehn, Hye Sun, Wang, Hongying, Yang, Dan, Park, Yong Hwan, Ombrello, Amanda K., Blake, Mary, Romeo, Tina, Remmers, Elaine F., Chae, Jae Jin, Mullikin, James C., Güzel, Ferhat, Milner, Joshua D., Boehm, Manfred, Rosenzweig, Sergio D., Gadina, Massimo, Welch, Steven B., Özen, Seza, Topaloglu, Rezan, Abinun, Mario, Kastner, Daniel L., Aksentijevich, Ivona

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Proposal for a Disease Activity Score and Disease Damage Score for ADA2 Deficiency: the DADA2AI and DADA2DI von Bucciol, Giorgia, Ombrello, Amanda K., Chambers, Eugene P., Meyts, Isabelle

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Characterization of HLH-like manifestations as a CRS variant in patients receiving CD22 CAR T cells von Lichtenstein, Daniel A., Schischlik, Fiorella, Shao, Lipei, Steinberg, Seth M., Yates, Bonnie, Wang, Hao-Wei, Wang, Yanyu, Inglefield, Jon, Dulau-Florea, Alina, Ceppi, Francesco, Hermida, Leandro C., Stringaris, Kate, Dunham, Kim, Homan, Philip, Jailwala, Parthav, Mirazee, Justin, Robinson, Welles, Chisholm, Karen M., Yuan, Constance, Stetler-Stevenson, Maryalice, Ombrello, Amanda K., Jin, Jianjian, Fry, Terry J., Taylor, Naomi, Highfill, Steven L., Jin, Ping, Gardner, Rebecca A., Shalabi, Haneen, Ruppin, Eytan, Stroncek, David F., Shah, Nirali N.

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Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS von Ferrada, Marcela A., Sikora, Keith A., Luo, Yiming, Wells, Kristina V., Patel, Bhavisha, Groarke, Emma M., Ospina Cardona, Daniela, Rominger, Emily, Hoffmann, Patrycja, Le, Mimi T., Deng, Zuoming, Quinn, Kaitlin A., Rose, Emily, Tsai, Wanxia L., Wigerblad, Gustaf, Goodspeed, Wendy, Jones, Anne, Wilson, Lorena, Schnappauf, Oskar, Laird, Ryan S., Kim, Jeff, Allen, Clint, Sirajuddin, Arlene, Chen, Marcus, Gadina, Massimo, Calvo, Katherine R., Kaplan, Mariana J., Colbert, Robert A., Aksentijevich, Ivona, Young, Neal S., Savic, Sinisa, Kastner, Daniel L., Ombrello, Amanda K., Beck, David B., Grayson, Peter C.

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Deficiency of adenosine deaminase 2: Is it an elephant after all? von Schnappauf, Oskar, Ombrello, Amanda K., Kastner, Daniel L.

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Brief Report: Deficiency of Complement 1r Subcomponent in Early‐Onset Systemic Lupus Erythematosus: The Role of Disease‐Modifying Alleles in a Monogenic Disease von Demirkaya, Erkan, Zhou, Qing, Smith, Carolyne K., Ombrello, Michael J., Deuitch, Natalie, Tsai, Wanxia L., Hoffmann, Patrycja, Remmers, Elaine F., Takeuchi, Masaki, Park, Yong Hwan, Chae, JaeJin, Barut, Kenan, Simsek, Dogan, Adrovic, Amra, Sahin, Sezgin, Caliskan, Salim, Chandrasekharappa, Settara C., Hasni, Sarfaraz A., Ombrello, Amanda K., Gadina, Massimo, Kastner, Daniel L., Kaplan, Mariana J., Kasapcopur, Ozgur, Aksentijevich, Ivona

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The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort von Barron, Karyl S, Aksentijevich, Ivona, Deuitch, Natalie T, Stone, Deborah L, Hoffmann, Patrycja, Videgar-Laird, Ryan, Soldatos, Ariane, Bergerson, Jenna, Toro, Camilo, Cudrici, Cornelia, Nehrebecky, Michele, Romeo, Tina, Jones, Anne, Boehm, Manfred, Kanakry, Jennifer A, Dimitrova, Dimana, Calvo, Katherine R, Alao, Hawwa, Kapuria, Devika, Ben-Yakov, Gil, Pichard, Dominique C, Hathaway, Londa, Brofferio, Alessandra, McRae, Elisa, Moura, Natalia Sampaio, Schnappauf, Oskar, Rosenzweig, Sofia, Heller, Theo, Cowen, Edward W, Kastner, Daniel L, Ombrello, Amanda K

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Analysis of deficiency of adenosine deaminase 2 pathogenesis based on single‐cell RNA sequencing of monocytes von Watanabe, Naoki, Gao, Shouguo, Wu, Zhijie, Batchu, Sai, Kajigaya, Sachiko, Diamond, Carrie, Alemu, Lemlem, Raffo, Diego Quinones, Hoffmann, Patrycja, Stone, Deborah, Ombrello, Amanda K., Young, Neal S.

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Spectrum of clonal hematopoiesis in VEXAS syndrome von Gutierrez-Rodrigues, Fernanda, Kusne, Yael, Fernandez, Jenna, Lasho, Terra, Shalhoub, Ruba, Ma, Xiaoyang, Alessi, Hugh, Finke, Christy, Koster, Matthew J., Mangaonkar, Abhishek, Warrington, Kenneth J., Begna, Kebede, Xie, Zhuoer, Ombrello, Amanda K., Viswanatha, David, Ferrada, Marcela, Wilson, Lorena, Go, Ronald, Kourelis, Taxiarchis, Reichard, Kaaren, Olteanu, Horatiu, Darden, Ivana, Hironaka, Dalton, Alemu, Lemlem, Kajigaya, Sachiko, Rosenzweig, Sofia, Calado, Rodrigo T., Groarke, Emma M., Kastner, Daniel L., Calvo, Katherine R., Wu, Colin O., Grayson, Peter C., Young, Neal S., Beck, David B., Patel, Bhavisha A., Patnaik, Mrinal M.

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Perforin-deficient CAR T cells recapitulate late-onset inflammatory toxicities observed in patients von Ishii, Kazusa, Pouzolles, Marie, Chien, Christopher D., Erwin-Cohen, Rebecca A., Kohler, M. Eric, Qin, Haiying, Lei, Haiyan, Kuhn, Skyler, Ombrello, Amanda K., Dulau-Florea, Alina, Eckhaus, Michael A., Shalabi, Haneen, Yates, Bonnie, Lichtenstein, Daniel A., Zimmermann, Valerie S., Kondo, Taisuke, Shern, Jack F., Young, Howard A., Taylor, Naomi, Shah, Nirali N., Fry, Terry J.

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Consequences of hemophagocytic lymphohistiocytosis‐like cytokine release syndrome toxicities and concurrent bacteremia von Masih, Katherine E., Ligon, John A., Yates, Bonnie, Shalabi, Haneen, Little, Lauren, Islam, Zahin, Ombrello, Amanda K., Inglefield, Jon, Nussenblatt, Veronique, Manion, Maura, Khan, Javed, Shah, Nirali N.

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Immune Effector Cell-Associated Hemophagocytic Lymphohistiocytosis-Like Syndrome von Hines, Melissa R., Knight, Tristan E., McNerney, Kevin O., Leick, Mark B., Jain, Tania, Ahmed, Sairah, Frigault, Matthew J., Hill, Joshua A., Jain, Michael D., Johnson, William T., Lin, Yi, Mahadeo, Kris M., Maron, Gabriela M., Marsh, Rebecca A., Neelapu, Sattva S., Nikiforow, Sarah, Ombrello, Amanda K., Shah, Nirav N., Talleur, Aimee C., Turicek, David, Vatsayan, Anant, Wong, Sandy W., Maus, Marcela V., Komanduri, Krishna V., Berliner, Nancy, Henter, Jan-Inge, Perales, Miguel-Angel, Frey, Noelle V., Teachey, David T., Frank, Matthew J., Shah, Nirali N.

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Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance von Schnappauf, Oskar, Zhou, Qing, Moura, Natalia Sampaio, Ombrello, Amanda K., Michael, Drew G., Deuitch, Natalie, Barron, Karyl, Stone, Deborah L., Hoffmann, Patrycja, Hershfield, Michael, Applegate, Carolyn, Bjornsson, Hans T., Beck, David B., Witmer, P. Dane, Sobreira, Nara, Wohler, Elizabeth, Chiorini, John A., Center, The American Genome, Dalgard, Clifton L., Center, NIH Intramural Sequencing, Kastner, Daniel L., Aksentijevich, Ivona

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Development of the autoinflammatory disease damage index (ADDI) von Ter Haar, Nienke M, Annink, Kim V, Al-Mayouf, Sulaiman M, Amaryan, Gayane, Antón López, Jordi, Barron, Karyl, Benseler, Susanne M, Brogan, Paul, Cantarini, Luca, Cattalini, Marco, Cochino, Alexis-Virgil, Benedetti, Fabrizio de, Dedeoglu, Fatma, Jesus, Adriana A. de, Casa Alberighi, Ornella della, Demirkaya, Erkan, Dolezalova, Pavla, Durrant, Karen L, Fabio, Giovanna, Gallizzi, Romina, Goldbach-Mansky, Raphaela, Hachulla, Eric, Hentgen, Veronique, Herlin, Troels, Hofer, Michaël, Hoffman, Hal M, Insalaco, Antonella, Jansson, Annette F, Kallinich, Tilmann, Koné-Paut, Isabelle, Kozlova, Anna, Kuemmerle-Deschner, Jasmin, Lachmann, Helen J, Laxer, Ronald M, Martini, Alberto, Nielsen, Susan, Nikishina, Irina, Ombrello, Amanda K, Ozen, Seza, Papadopoulou-Alataki, Efimia, Quartier, Pierre, Rigante, Donato, Russo, Ricardo, Simon, Anna, Trachana, Maria, Uziel, Yosef, Ravelli, Angelo, Gattorno, Marco, Frenkel, Joost

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Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis von Ferrada, Marcela A., Savic, Sinisa, Cardona, Daniela Ospina, Collins, Jason C., Alessi, Hugh, Gutierrez-Rodrigues, Fernanda, Kumar, Dinesh Babu Uthaya, Wilson, Lorena, Goodspeed, Wendy, Topilow, James S., Paik, Julie J., Poulter, James A., Kermani, Tanaz A., Koster, Matthew J., Warrington, Kenneth J., Cargo, Catherine, Tattersall, Rachel S., Duncan, Christopher J.A., Cantor, Anna, Hoffmann, Patrycja, Payne, Elspeth M., Bonnekoh, Hanna, Krause, Karoline, Cowen, Edward W., Calvo, Katherine R., Patel, Bhavisha A., Ombrello, Amanda K., Kastner, Daniel L., Young, Neal S., Werner, Achim, Grayson, Peter C., Beck, David B.

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The safety of live-attenuated vaccines in patients using IL-1 or IL-6 blockade: an international survey von Jeyaratnam, Jerold, Ter Haar, Nienke M, Lachmann, Helen J, Kasapcopur, Ozgur, Ombrello, Amanda K, Rigante, Donato, Dedeoglu, Fatma, Baris, Ezgi H, Vastert, Sebastiaan J, Wulffraat, Nico M, Frenkel, Joost

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Early-onset stroke, polyarteritis nodosa (PAN), and livedo racemosa von Pichard, Dominique C., MD, Ombrello, Amanda K., MD, Hoffmann, Patrycja, MS, CRNP, Stone, Deborah L., MD, Cowen, Edward W., MD, MHSc

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Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS von Wu, Zhijie, Gao, Shouguo, Gao, Qingyan, Patel, Bhavisha A., Groarke, Emma M., Feng, Xingmin, Manley, Ash Lee, Li, Haoran, Ospina Cardona, Daniela, Kajigaya, Sachiko, Alemu, Lemlem, Quinones Raffo, Diego, Ombrello, Amanda K., Ferrada, Marcela A., Grayson, Peter C., Calvo, Katherine R., Kastner, Daniel L., Beck, David B., Young, Neal S.

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Periodic Illness Associated With Epstein-Barr Virus: A New Diagnosis After a 22-Year Follow-up von Dropulic, Lesia K., Ali, Mir A., Ombrello, Amanda K., Cohen, Jeffrey I.

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