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Journal Articles

Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function

Jahnavi Aluri, Alicia Bach, Saara Kaviany, Luana Chiquetto Paracatu, Maleewan Kitcharoensakkul, Magdalena A. Walkiewicz, Christopher D. Putnam, Marwan Shinawi, Nermina Saucier, Elise M. Rizzi, Michael T. Harmon, Molly P. Keppel, Michelle Ritter, Morgan Similuk, Elaine Kulm, Michael Joyce, Adriana A. de Jesus, Raphaela Goldbach-Mansky, Yi-Shan Lee, Marina Cella, Peggy L. Kendall, Mary C. Dinauer, Jeffrey J. Bednarski, Christina Bemrich-Stolz, Scott W. Canna, Shirley M. Abraham, Matthew M. Demczko, Jonathan Powell, Stacie M. Jones, Amy M. Scurlock, Suk See De Ravin, Jack J. Bleesing, James A. Connelly, V. Koneti Rao, Laura G. Schuettpelz, Megan A. Cooper
Journal: Blood
Blood (2021) 137 (18): 2450–2462.
https://doi.org/10.1182/blood.2020009620
Published: 2021
Includes: Supplemental data
Journal Articles

Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report

Clinical Trials & Observations
Lauri M. Burroughs, Aleksandra Petrovic, Ruta Brazauskas, Xuerong Liu, Linda M. Griffith, Hans D. Ochs, Jack J. Bleesing, Stephanie Edwards, Christopher C. Dvorak, Sonali Chaudhury, Susan E. Prockop, Ralph Quinones, Frederick D. Goldman, Troy C. Quigg, Shanmuganathan Chandrakasan, Angela R. Smith, Suhag Parikh, Blachy J. Dávila Saldaña, Monica S. Thakar, Rachel Phelan, Shalini Shenoy, Lisa R. Forbes, Caridad Martinez, Deepak Chellapandian, Evan Shereck, Holly K. Miller, Neena Kapoor, Jessie L. Barnum, Hey Chong, David C. Shyr, Karin Chen, Rolla Abu-Arja, Ami J. Shah, Katja G. Weinacht, Theodore B. Moore, Avni Joshi, Kenneth B. DeSantes, Alfred P. Gillio, Geoffrey D. E. Cuvelier, Michael D. Keller, Jacob Rozmus, Troy Torgerson, Michael A. Pulsipher, Elie Haddad, Kathleen E. Sullivan, Brent R. Logan, Donald B. Kohn, Jennifer M. Puck, Luigi D. Notarangelo, Sung-Yun Pai, David J. Rawlings, Morton J. Cowan
Journal: Blood
Blood (2020) 135 (23): 2094–2105.
https://doi.org/10.1182/blood.2019002939
Published: 2020
Journal Articles

Perforin and CD107a testing is superior to NK cell function testing for screening patients for genetic HLH

Clinical Trials & Observations
Tamar S. Rubin, Kejian Zhang, Carrie Gifford, Adam Lane, Sharon Choo, Jack J. Bleesing, Rebecca A. Marsh
Journal: Blood
Blood (2017) 129 (22): 2993–2999.
https://doi.org/10.1182/blood-2016-12-753830
Published: 2017
Includes: Supplemental data
Journal Articles

Sirolimus is effective in relapsed/refractory autoimmune cytopenias: results of a prospective multi-institutional trial

Clinical Trials & Observations
Karen L. Bride, Tiffaney Vincent, Kim Smith-Whitley, Michele P. Lambert, Jack J. Bleesing, Alix E. Seif, Catherine S. Manno, James Casper, Stephan A. Grupp, David T. Teachey
Journal: Blood
Blood (2016) 127 (1): 17–28.
https://doi.org/10.1182/blood-2015-07-657981
Published: 2016
Includes: Supplemental data
Journal Articles

Accuracy of flow cytometric perforin screening for detecting patients with FHL due to PRF1 mutations

Clinical Trials & Observations
Manar Abdalgani, Alexandra H. Filipovich, Sharon Choo, Kejian Zhang, Carrie Gifford, Joyce Villanueva, Jack J. Bleesing, Rebecca A. Marsh
Journal: Blood
Blood (2015) 126 (15): 1858–1860.
https://doi.org/10.1182/blood-2015-06-648659
Published: 2015
Includes: Supplemental data
Journal Articles

Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes

Clinical Trials & Observations
Rebecca A. Marsh, Kanchan Rao, Prakash Satwani, Kai Lehmberg, Ingo Müller, Dandan Li, Mi-Ok Kim, Alain Fischer, Sylvain Latour, Petr Sedlacek, Vincent Barlogis, Kazuko Hamamoto, Hirokazu Kanegane, Sam Milanovich, David A. Margolis, David Dimmock, James Casper, Dorothea N. Douglas, Persis J. Amrolia, Paul Veys, Ashish R. Kumar, Michael B. Jordan, Jack J. Bleesing, Alexandra H. Filipovich
Journal: Blood
Blood (2013) 121 (6): 877–883.
https://doi.org/10.1182/blood-2012-06-432500
Published: 2013
Journal Articles

Reduced-intensity conditioning significantly improves survival of patients with hemophagocytic lymphohistiocytosis undergoing allogeneic hematopoietic cell transplantation

Clinical Trials & Observations
Rebecca A. Marsh, Gretchen Vaughn, Mi-Ok Kim, Dandan Li, Sonata Jodele, Sarita Joshi, Parinda A. Mehta, Stella M. Davies, Michael B. Jordan, Jack J. Bleesing, Alexandra H. Filipovich
Journal: Blood
Blood (2010) 116 (26): 5824–5831.
https://doi.org/10.1182/blood-2010-04-282392
Published: 2010
Includes: Supplemental data
Journal Articles

Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop

e-blood
Joao B. Oliveira, Jack J. Bleesing, Umberto Dianzani, Thomas A. Fleisher, Elaine S. Jaffe, Michael J. Lenardo, Frederic Rieux-Laucat, Richard M. Siegel, Helen C. Su, David T. Teachey, V. Koneti Rao
Journal: Blood
Blood (2010) 116 (14): e35–e40.
https://doi.org/10.1182/blood-2010-04-280347
Published: 2010
Includes: Supplemental data
Journal Articles

XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease

Brief Report
Rebecca A. Marsh, Lisa Madden, Brenda J. Kitchen, Rajen Mody, Brad McClimon, Michael B. Jordan, Jack J. Bleesing, Kejian Zhang, Alexandra H. Filipovich
Journal: Blood
Blood (2010) 116 (7): 1079–1082.
https://doi.org/10.1182/blood-2010-01-256099
Published: 2010
Includes: Supplemental data
Journal Articles

Reduced Intensity Conditioning Is Safe and Effective for Transplantation of Patients with Shwachman Diamond Syndrome.

D. Bhatla, Stella M. Davies, R.E. Harris, M. Crockett, L. Shoultz, S. Shenoy, J. Bleesing, M. Hansen, S. Jodele, M. Jordan, A.H. Filipovich, Parinda A. Mehta
Journal: Blood
Blood (2007) 110 (11): 2004.
https://doi.org/10.1182/blood.V110.11.2004.2004
Published: 2007