Combined immunodeficiency presenting as autoimmune hemolytic anemia von Nasir, Aman, MD, Caldwell, Jason W., DO, FAAAAI, Batt, Katharine, MD, Mousallem, Talal I., MD

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Allogenic Hematopoietic Cell Transplantations Are Effective in Patients with p47phox Chronic Granulomatous Disease: A Primary Immune Deficiency Treatment Consortium Study von 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., Murguía-Favela, Luis, Mousallem, Talal I., Prasad, Prof. Vinod K., Teira, Pierre, Touzot, Fabien, Bunin, Nancy J., Heimall, Jennifer R., Burroughs, Lauri M., Kapadia, Malika, Prockop, Susan, Chandra, Sharat, Chandrakasan, Shanmuganathan, Chaudhury, Sonali, Broglie, Larisa, O’Reilly, Richard J., Dávila Saldaña, Blachy J., Schaefer, Edo, Chong, Hey, Bednarski, Jeffrey J., Rayes, Ahmad, DeSantes, Kenneth, Kohn, Donald B., Notarangelo, Luigi D., Pai, Sung-Yun, Puck, Jennifer, Torgerson, Troy, Cowan, Morton J., Dvorak, Christopher C., Satter, Lisa Forbes, Haddad, Elie, Pulsipher, Michael, Malech, Harry L., Kang, Elizabeth M., Leiding, Jennifer W.

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382 - Allogenic Hematopoietic Cell Transplantations Are Effective in Patients with p47phox Chronic Granulomatous Disease: A Primary Immune Deficiency Treatment Consortium Study von 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., Murguía-Favela, Luis, Mousallem, Talal I., Prasad, Prof. Vinod K., Teira, Pierre, Touzot, Fabien, Bunin, Nancy J., Heimall, Jennifer R., Burroughs, Lauri M., Kapadia, Malika, Prockop, Susan, Chandra, Sharat, Chandrakasan, Shanmuganathan, Chaudhury, Sonali, Broglie, Larisa, O’Reilly, Richard J., Dávila Saldaña, Blachy J., Schaefer, Edo, Chong, Hey, Bednarski, Jeffrey J., Rayes, Ahmad, DeSantes, Kenneth, Kohn, Donald B., Notarangelo, Luigi D., Pai, Sung-Yun, Puck, Jennifer, Torgerson, Troy, Cowan, Morton J., Dvorak, Christopher C., Satter, Lisa Forbes, Haddad, Elie, Pulsipher, Michael, Malech, Harry L., Kang, Elizabeth M., Leiding, Jennifer W.

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167 Differentiating IPEX- like syndrome from other causes of autoimmune enteropathy von Chen, Jenny, Hall, Geoffrey, Kim-Chang, Julie, Mousallem, Talal

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A newborn with multiple intestinal atresias found to have variants in tetratricopeptide repeat domain 7A gene von Zhou, Cynthia, Koutlas, Nicole, Kim-Chang, Julie, Mousallem, Talal

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A Single-Center Review of Severe Combined Immune Deficiency (SCID) Newborn Screening (NBS) Data in the Neonatal Intensive Care Unit (NICU) von Hall, Geoffrey, Burt, Trevor, Fisher, Kimberley, Pittman, Rick, Sleasman, John, Buckley, Rebecca, Cotten, Michael, Mousallem, Talal

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Severe Hematologic Abnormality Associated with an Inborn Error of Immunity (IEI) von Hall, Geoffrey, Markle, Janet, Maiarana, James, Rothman, Jennifer, Martin, Paul, Sleasman, John, Mousallem, Talal

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A nonsense mutation in IKBKB causes combined immunodeficiency von Mousallem, Talal, Yang, Jialong, Urban, Thomas J., Wang, Hongxia, Adeli, Mehdi, Parrott, Roberta E., Roberts, Joseph L., Goldstein, David B., Buckley, Rebecca H., Zhong, Xiao-Ping

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Early immune reconstitution in an infant with adenosine deaminase deficient severe combined immunodeficiency started on enzyme replacement therapy von Phillips, Michael, Hall, Geoffrey, Koutlas, Nicole, Hicks, Elizabeth, Buckley, Kevin, Buckley, Rebecca, Sleasman, John, Hershfield, Michael, Tarrant, Teresa, Mousallem, Talal

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Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature von Petrovski, Slavé, Parrott, Roberta E., Roberts, Joseph L., Huang, Hongxiang, Yang, Jialong, Gorentla, Balachandra, Mousallem, Talal, Wang, Endi, Armstrong, Martin, McHale, Duncan, MacIver, Nancie J., Goldstein, David B., Zhong, Xiao-Ping, Buckley, Rebecca H.

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Clinical Implications of Inherited Chromosomally Integrated HHV-6 in the Setting of ADA-Deficient SCID von Purswani, Pooja, Hall, Geoffrey, Moorthy, Ganga, Mousallem, Talal

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Pediatric oral food challenges in the outpatient setting: A single-center experience von Koutlas, Nicole, Stallings, Amy, Hall, Geoffrey, Zhou, Cynthia, Kim-Chang, Julie, Mousallem, Talal

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Clinical application of whole-genome sequencing in patients with primary immunodeficiency von Mousallem, Talal, MD, Urban, Thomas J., PharmD, PhD, McSweeney, K. Melodi, BS, Kleinstein, Sarah E., MS, Zhu, Mingfu, PhD, Adeli, Mehdi, MD, Parrott, Roberta E., BS, Roberts, Joseph L., MD, PhD, Krueger, Brian, PhD, Buckley, Rebecca H., MD, Goldstein, David B., PhD

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20 Multi-Year Registry Study of Elapegademase-lvlr Treatment in Patients with Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Requiring Enzyme Replacement Therapy (... von Dorsey, Morna, Butte, Manish, Lieberman, Jay, Lehman, Heather, Fausnight, Tracy, Keller, Michael, Fradette, Caroline, Hershfield, Michael, Pozos, Tamara, Rozova, Anna, Wall, Luke, Morena, M. Teresa de la, Bednarski, Jeffrey, Tarrant, Teresa, Chong, Hey, Geng, Bob, Temin, Noemi Toiber, Laubach, Susan, Lin, Leo, Mousallem, Talal, Walter, Jolan

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Case Report: Profound newborn leukopenia related to a novel RAC2 variant von Hall, Geoffrey, Donkó, Ágnes, Pratt, Cristina, Kim-Chang, Julie J, Martin, Paul L, Stallings, Amy P, Sleasman, John W, Holland, Steven M, Hsu, Amy P, Leto, Thomas L, Mousallem, Talal

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Synergistic control of T cell development and tumor suppression by diacylglycerol kinase α and ζ von Guo, Rishu, Wan, Chi-Keung, Carpenter, Jeffery H, Mousallem, Talal, Boustany, Rose-Mary N, Kuan, Chien-Tsun, Burks, A. Wesley, Zhong, Xiao-Ping

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Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients von Geier, Christoph B., Ellison, Maryssa, Cruz, Rachel, Pawar, Sumit, Leiss-Piller, Alexander, Zmajkovicova, Katarina, McNulty, Shannon M, Yilmaz, Melis, Evans, Martin Oman, Gordon, Sumai, Ujhazi, Boglarka, Wiest, Ivana, Abolhassani, Hassan, Aghamohammadi, Asghar, Barmettler, Sara, Bhar, Saleh, Bondarenko, Anastasia, Bolyard, Audrey Anna, Buchbinder, David, Cada, Michaela, Cavieres, Mirta, Connelly, James A., Dale, David C., Deordieva, Ekaterina, Dorsey, Morna J., Drysdale, Simon B., Ehl, Stephan, Elfeky, Reem, Fioredda, Francesca, Firkin, Frank, Förster-Waldl, Elizabeth, Geng, Bob, Goda, Vera, Gonzalez-Granado, Luis, Grunebaum, Eyal, Grzesk, Elzbieta, Henrickson, Sarah E., Hilfanova, Anna, Hiwatari, Mitsuteru, Imai, Chihaya, Ip, Winnie, Jyonouchi, Soma, Kanegane, Hirokazu, Kawahara, Yuta, Khojah, Amer M., Kim, Vy Hong-Diep, Kojić, Marina, Kołtan, Sylwia, Krivan, Gergely, Langguth, Daman, Lau, Yu-Lung, Leung, Daniel, Miano, Maurizio, Mersyanova, Irina, Mousallem, Talal, Muskat, Mica, Naoum, Flavio A., Noronha, Suzie A., Ouederni, Monia, Ozono, Shuichi, Richmond, G. Wendell, Sakovich, Inga, Salzer, Ulrich, Schuetz, Catharina, Seeborg, Filiz Odabasi, Sharapova, Svetlana O., Sockel, Katja, Volokha, Alla, von Bonin, Malte, Warnatz, Klaus, Wegehaupt, Oliver, Weinberg, Geoffrey A., Wong, Ke-Juin, Worth, Austen, Yu, Huang, Zharankova, Yulia, Zhao, Xiaodong, Devlin, Lisa, Badarau, Adriana, Csomos, Krisztian, Keszei, Marton, Pereira, Joao, Taveras, Arthur G, Beaussant-Cohen, Sarah L., Ong, Mei-Sing, Shcherbina, Anna, Walter, Jolan E.

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CLN5 and CLN8 protein association with ceramide synthase: Biochemical and proteomic approaches von Haddad, Saria El, Khoury, Marwan, Daoud, Mohammad, Kantar, Rami, Harati, Hayat, Mousallem, Talal, Alzate, Oscar, Meyer, Brian, Boustany, Rose-Mary

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The CLN9 Protein, a Regulator of Dihydroceramide Synthase von Schulz, Angela, Mousallem, Talal, Venkataramani, Maya, Persaud-Sawin, Dixie-Ann, Zucker, Adam, Luberto, Chiara, Bielawska, Alicja, Bielawski, Jacek, Holthuis, Joost C.M., Jazwinski, S. Michal, Kozhaya, Lina, Dbaibo, Ghassan S., Boustany, Rose-Mary N.

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Whole-Exome Sequencing Reveals IKBKB As a Cause of Combined Immunodeficiency von Mousallem, Talal, Dr, Yang, Jialong, Dr, Urban, Thomas J., Dr, Wang, Hongxia, Mrs, Parrott, Roberta E., Mrs, Roberts, Joseph L., Dr, Buckley, Rebecca H., Dr, Zhong, Xiaoping, Dr, Goldstein, David B., Dr

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