An update on the hyper-IgE syndromes

by Yong, Patrick FK, Freeman, Alexandra F, Engelhardt, Karin R, Holland, Steven, Puck, Jennifer M, Grimbacher, Bodo
Published 2012

Newborn Screening for SCID Identifies Patients with Ataxia Telangiectasia

by Mallott, Jacob, Kwan, Antonia, Church, Joseph, Gonzalez-Espinosa, Diana, Lorey, Fred, Tang, Ling Fung, Sunderam, Uma, Rana, Sadhna, Srinivasan, Rajgopal, Brenner, Steven E., Puck, Jennifer
Published 2012

Nijmegen Breakage Syndrome Detected by Newborn Screening for T Cell Receptor Excision Circles (TRECs)

by Patel, Jay P., Puck, Jennifer M., Srinivasan, Rajgopal, Brown, Christina, Sunderam, Uma, Kundu, Kunal, Brenner, Steven E., Gatti, Richard A., Church, Joseph A.
Published 2015

Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib

by Bi, Lilia L, Pan, George, Atkinson, T Prescott, Zheng, Lixin, Dale, Janet K, Makris, Christopher, Reddy, Vishnu, McDonald, Jay M, Siegel, Richard M, Puck, Jennifer M, Lenardo, Michael J, Straus, Stephen E
Published 2007

A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70

by Chan, Alice Y., Punwani, Divya, Kadlecek, Theresa A., Cowan, Morton J., Olson, Jean L., Mathes, Erin F., Sunderam, Uma, Man Fu, Shu, Srinivasan, Rajgopal, Kuriyan, John, Brenner, Steven E., Weiss, Arthur, Puck, Jennifer M.
Published 2016

Combined Immunodeficiency Due to MALT1 Mutations, Treated by Hematopoietic Cell Transplantation

by Punwani, Divya, Wang, Haopeng, Chan, Alice Y., Cowan, Morton J., Mallott, Jacob, Sunderam, Uma, Mollenauer, Marianne, Srinivasan, Rajgopal, Brenner, Steven E., Mulder, Arend, Claas, Frans H. J., Weiss, Arthur, Puck, Jennifer M.
Published 2015

Long-Term Tolerability, Safety, and Efficacy of Recombinant Human Hyaluronidase-Facilitated Subcutaneous Infusion of Human Immunoglobulin for Primary Immunodeficiency

by Wasserman, Richard L., Melamed, Isaac, Stein, Mark R., Engl, Werner, Sharkhawy, Marlies, Leibl, Heinz, Puck, Jennifer, Rubinstein, Arye, Kobrynski, Lisa, Gupta, Sudhir, Grant, Andrew J., Ratnayake, Anoshie, Richmond, Wendell G., Church, Joseph, Yel, Leman, Gelmont, David
Published 2016

Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency

by Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chapel, Helen, Conley, Mary Ellen, Cunningham-Rundles, Charlotte, Etzioni, Amos, Fischer, Alain, Franco, Jose Luis, Geha, Raif S., Hammarström, Lennart, Nonoyama, Shigeaki, Notarangelo, Luigi Daniele, Ochs, Hans Dieter, Puck, Jennifer M., Roifman, Chaim M., Seger, Reinhard, Tang, Mimi L. K.
Published 2011

Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency

by Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Conley, Mary Ellen, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Gaspar, H. Bobby, Holland, Steven M., Klein, Christoph, Nonoyama, Shigeaki, Ochs, Hans D., Oksenhendler, Erik, Picard, Capucine, Puck, Jennifer M., Sullivan, Kate, Tang, Mimi L. K.
Published 2014

Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015

by Picard, Capucine, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Conley, Mary Ellen, Cunningham-Rundles, Charlotte, Etzioni, Amos, Holland, Steven M., Klein, Christoph, Nonoyama, Shigeaki, Ochs, Hans D., Oksenhendler, Eric, Puck, Jennifer M., Sullivan, Kathleen E., Tang, Mimi L K., Franco, Jose Luis, Gaspar, H. Bobby
Published 2015

The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies

by Bousfiha, Aziz, Jeddane, Leïla, Al-Herz, Waleed, Ailal, Fatima, Casanova, Jean‐Laurent, Chatila, Talal, Conley, Mary Ellen, Cunningham‐Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Gaspar, H. Bobby, Holland, Steven M., Klein, Christoph, Nonoyama, Shigeaki, Ochs, Hans D., Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer M., Sullivan, Kathleen E., Tang, Mimi L. K.
Published 2015

Corrigendum: Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficienc...

by Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Conley, Mary Ellen, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Gaspar, H. Bobby, Holland, Steven M., Klein, Christoph, Nonoyama, Shigeaki, Ochs, Hans D., Oksenhendler, Erik, Picard, Capucine, Puck, Jennifer M., Sullivan, Kate, Tang, Mimi L. K.
Published 2014