Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management
Linda M Griffith, Morton J Cowan, Luigi D Notarangelo, Jennifer M Puck, Rebecca H Buckley, Fabio Candotti, Mary Ellen Conley, Thomas A Fleisher, H Bobby Gaspar, Donald B Kohn, Hans D Ochs, Richard J O'Reilly, J Douglas Rizzo, Chaim M Roifman, Trudy N Small, William T Shearer, Workshop Participants, Rebecca H Buckley, Thomas A Fleischer, Jennifer M Puck, Jacob J H Bleesing, Marcia Boyle, Kimberly Risma, John M Routes, William T Shearer, Troy R Torgerson, Morton J Cowan, Chaim M Roifman, Lauri Burroughs, Charlotte Cunningham-Rundles, Suk See DeRavin, Christopher C Dvorak, H Bobby Gaspar, Naynesh Kamani, Neena Kapoor, Donald B Kohn, Joshua D Milner, Luigi D Notarangelo, Richard J O'Reilly, Jennifer M Puck, Paul Szabolcs, Fabio Candotti, Elizabeth M Kang, Kimberly E Nichols, Michael H Albert, Elie Haddad, Hans D Ochs, Jordan Orange, David J Rawlings, Mary Ellen Conley, Trudy N Small, Javier Chinen, Louise M Markert, Sung-Yun Pai, Kirk R Schultz, Paul Szabolcs, Luigi D Notarangelo, J Douglas Rizzo, Morton J Cowan, Linda M Griffith, Josiah F Wedgwood, Morton J Cowan, Linda M Griffith, Luigi D Notarangelo, Jennifer M Puck, Michael H Albert, Barbara Ballard, Jacob J H Bleesing, James Bowman, Marcia Boyle, Rebecca H Buckley, Lauri Burroughs, Fabio Candotti, Javier Chinen, Mary Ellen Conley, Susan Cooper, Charlotte Cunningham-Rundles, Agnieszka Czechowicz, Suk See DeRavin, Christopher C Dvorak, William T Ferriss, Thomas A Fleisher, Hubert Bobby Gaspar, Elie Haddad, Robert J Hartzman, Michael Hershfield, Henrietta Hyatt-Knorr, Naynesh R Kamani, Elizabeth M Kang, Neena Kapoor, Donald B Kohn, Bernard Kozlovsky, Harry L Malech, M Louise Markert, Joshua D Milner, Fred Modell, Vicki Modell, Kim E Nichols, Hans D Ochs, Jordan Orange, Marina M O'Reilly, Richard J O'Reilly, Sung-Yun Pai, David J Rawlings, Kimberly Risma, J Douglas Rizzo, Chaim M Roifman, John M Routes, Charles Sang, Nicole D Schlautmann, Kirk R Schultz, William T Shearer, Judith Anne Shizuru, Mona Siddiqui, Trudy N Small, Kathleen E Sullivan, Paul Szabolcs, Troy R Torgerson, Josiah F Wedgwood, Roy S Wu, Linda M Griffith, Morton J Cowan, Luigi D Notarangelo, Jennifer M Puck, Rebecca H Buckley, Fabio Candotti, Mary Ellen Conley, Thomas A Fleisher, H Bobby Gaspar, Donald B Kohn, Hans D Ochs, Richard J O'Reilly, J Douglas Rizzo, Chaim M Roifman, Trudy N Small, William T Shearer, Workshop Participants, Rebecca H Buckley, Thomas A Fleischer, Jennifer M Puck, Jacob J H Bleesing, Marcia Boyle, Kimberly Risma, John M Routes, William T Shearer, Troy R Torgerson, Morton J Cowan, Chaim M Roifman, Lauri Burroughs, Charlotte Cunningham-Rundles, Suk See DeRavin, Christopher C Dvorak, H Bobby Gaspar, Naynesh Kamani, Neena Kapoor, Donald B Kohn, Joshua D Milner, Luigi D Notarangelo, Richard J O'Reilly, Jennifer M Puck, Paul Szabolcs, Fabio Candotti, Elizabeth M Kang, Kimberly E Nichols, Michael H Albert, Elie Haddad, Hans D Ochs, Jordan Orange, David J Rawlings, Mary Ellen Conley, Trudy N Small, Javier Chinen, Louise M Markert, Sung-Yun Pai, Kirk R Schultz, Paul Szabolcs, Luigi D Notarangelo, J Douglas Rizzo, Morton J Cowan, Linda M Griffith, Josiah F Wedgwood, Morton J Cowan, Linda M Griffith, Luigi D Notarangelo, Jennifer M Puck, Michael H Albert, Barbara Ballard, Jacob J H Bleesing, James Bowman, Marcia Boyle, Rebecca H Buckley, Lauri Burroughs, Fabio Candotti, Javier Chinen, Mary Ellen Conley, Susan Cooper, Charlotte Cunningham-Rundles, Agnieszka Czechowicz, Suk See DeRavin, Christopher C Dvorak, William T Ferriss, Thomas A Fleisher, Hubert Bobby Gaspar, Elie Haddad, Robert J Hartzman, Michael Hershfield, Henrietta Hyatt-Knorr, Naynesh R Kamani, Elizabeth M Kang, Neena Kapoor, Donald B Kohn, Bernard Kozlovsky, Harry L Malech, M Louise Markert, Joshua D Milner, Fred Modell, Vicki Modell, Kim E Nichols, Hans D Ochs, Jordan Orange, Marina M O'Reilly, Richard J O'Reilly, Sung-Yun Pai, David J Rawlings, Kimberly Risma, J Douglas Rizzo, Chaim M Roifman, John M Routes, Charles Sang, Nicole D Schlautmann, Kirk R Schultz, William T Shearer, Judith Anne Shizuru, Mona Siddiqui, Trudy N Small, Kathleen E Sullivan, Paul Szabolcs, Troy R Torgerson, Josiah F Wedgwood, Roy S Wu
Abstract
More than 20 North American academic centers account for the majority of hematopoietic stem cell transplantation (HCT) procedures for primary immunodeficiency diseases (PIDs), with smaller numbers performed at additional sites. Given the importance of a timely diagnosis of these rare diseases and the diversity of practice sites, there is a need for guidance as to best practices in management of patients with PIDs before, during, and in follow-up for definitive treatment. In this conference report of immune deficiency experts and HCT physicians who care for patients with PIDs, we present expert guidance for (1) PID diagnoses that are indications for HCT, including severe combined immunodeficiency disease (SCID), combined immunodeficiency disease, and other non-SCID diseases; (2) the critical importance of a high degree of suspicion of the primary care physician and timeliness of diagnosis for PIDs; (3) the need for rapid referral to an immune deficiency expert, center with experience in HCT, or both for patients with PIDs; (4) medical management of a child with suspicion of SCID/combined immunodeficiency disease while confirming the diagnosis, including infectious disease management and workup; (5) the posttransplantation follow-up visit schedule; (6) antimicrobial prophylaxis after transplantation, including gamma globulin administration; and (7) important indications for return to the transplantation center after discharge. Finally, we discuss the role of high-quality databases in treatment of PIDs and HCT as an element of the infrastructure that will be needed for productive multicenter clinical trials in these rare diseases.
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Source: PubMed