Establishing Newborn Screening for SCID in the USA; Experience in California †

por Puck, Jennifer M., Gennery, Andrew R.
Publicado 2021

An update on the hyper-IgE syndromes

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

Impact of Genetic Diagnosis on the Outcome of Hematopoietic Stem Cell Transplant in Primary Immunodeficiency Disorders

por Forlanini, Federica, Chan, Alice, Dara, Jasmeen, Dvorak, Christopher C., Cowan, Morton J., Puck, Jennifer M., Dorsey, Morna J.
Publicado 2022

Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency

por Blom, Maartje, Zetterstroöm, Rolf H., Stray-Pedersen, Asbjørg, Gilmour, Kimberly, Gennery, Andrew R., Puck, Jennifer M., van der Burg, Mirjam
Publicado 2022

Eosinophilic gastrointestinal disorders in patients with inborn errors of immunity: Data from the USIDNET registry

por Tran, Paulina, Gober, Laura, Garabedian, Elizabeth K., Fuleihan, Ramsay L., Puck, Jennifer M., Sullivan, Kathleen E., Spergel, Jonathan M., Ruffner, Melanie A.
Publicado 2022

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

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

Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace...

por Adhikari, Aashish N., Currier, Robert J., Tang, Hao, Turgeon, Coleman T., Nussbaum, Robert L., Srinivasan, Rajgopal, Sunderam, Uma, Kwok, Pui-Yan, Brenner, Steven E., Gavrilov, Dimitar, Puck, Jennifer M., Gallagher, Renata
Publicado 2020

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

por 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
Publicado 2007

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

por 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.
Publicado 2015

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

por 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.
Publicado 2016

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation

por Vogt, Guillaume, Bustamante, Jacinta, Chapgier, Ariane, Feinberg, Jacqueline, Boisson Dupuis, Stephanie, Picard, Capucine, Mahlaoui, Nizar, Gineau, Laure, Alcaïs, Alexandre, Lamaze, Christophe, Puck, Jennifer M., de Saint Basile, Geneviève, Khayat, Claudia Djambas, Mikhael, Raymond, Casanova, Jean-Laurent
Publicado 2008

Polymer-stabilized Cas9 nanoparticles and modified repair templates increase genome editing efficiency

por Nguyen, David N., Roth, Theodore L., Li, P. Jonathan, Chen, Peixin Amy, Apathy, Ryan, Mamedov, Murad R., Vo, Linda T., Tobin, Victoria R., Goodman, Daniel, Shifrut, Eric, Bluestone, Jeffrey A., Puck, Jennifer M., Szoka, Francis C., Marson, Alexander
Publicado 2019

Poor T-cell receptor β repertoire diversity early posttransplant for severe combined immunodeficiency predicts failure of immune reconstitution

por Delmonte, Ottavia M., Castagnoli, Riccardo, Yu, Jason, Dvorak, Christopher C., Cowan, Morton J., Dávila Saldaña, Blachy J., De Ravin, Suk See, Mamcarz, Ewelina, Chang, Catherine K., Daley, Stephen R., Griffith, Linda M., Notarangelo, Luigi D., Puck, Jennifer M.
Publicado 2022

The actin regulator coronin-1A is mutated in a thymic egress deficient mouse strain and in a T(−)B(+)NK(+) SCID patient

por Shiow, Lawrence R., Roadcap, David W., Paris, Kenneth, Watson, Susan R., Grigorova, Irina L., Lebet, Tonya, An, Jinping, Xu, Ying, Jenne, Craig N., Föger, Niko, Sorensen, Ricardo U., Goodnow, Christopher C., Bear, James E., Puck, Jennifer M., Cyster, Jason G.
Publicado 2008

Investigation of the causal etiology in a patient with T-B+NK+ immunodeficiency

por Sertori, Robert, Lin, Jian-Xin, Martinez, Esteban, Rana, Sadhna, Sharo, Andrew, Kazemian, Majid, Sunderam, Uma, Andrake, Mark, Shinton, Susan, Truong, Billy, Dunbrack, Roland M., Liu, Chengyu, Srinivasan, Rajgopol, Brenner, Steven E., Seroogy, Christine M., Puck, Jennifer M., Leonard, Warren J., Wiest, David L.
Publicado 2022

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

por 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.
Publicado 2011

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

por 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.
Publicado 2014

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

por 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.
Publicado 2014

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

por 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
Publicado 2015

The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies

por 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.
Publicado 2015