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Items: 1 to 20 of 28

1.
Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers
Morna J. Dorsey, Nicola A. M. Wright, Natalia S. Chaimowitz, Blachy J. Dávila Saldaña, Holly Miller, Michael D. Keller, Monica S. Thakar, Ami J. Shah, Rolla Abu-Arja, Jeffrey Andolina, Victor Aquino, J. L. Barnum, Jeffrey J. Bednarski, Monica Bhatia, Francisco A. Bonilla, Manish J. Butte, Nancy J. Bunin, Sharat Chandra, Sonali Chaudhury, Karin Chen, Hey Chong, Geoffrey D. E. Cuvelier, Jignesh Dalal, Magee L. DeFelice, Kenneth B. DeSantes, Lisa R. Forbes, Alfred Gillio, Fred Goldman, Avni Y. Joshi, Neena Kapoor, Alan P. Knutsen, Lisa Kobrynski, Jay A. Lieberman, Jennifer W. Leiding, Benjamin Oshrine, Kiran P. Patel, Susan Prockop, Troy C. Quigg, Ralph Quinones, Kirk R. Schultz, Christine Seroogy, David Shyr, Subhadra Siegel, Angela R. Smith, Troy R. Torgerson, Mark T. Vander Lugt, Lolie C. Yu, Morton J. Cowan, Rebecca H. Buckley, Christopher C. Dvorak, Linda M. Griffith, Elie Haddad, Donald B. Kohn, Brent Logan, Luigi D. Notarangelo, Sung-Yun Pai, Jennifer Puck, Michael A. Pulsipher, Jennifer Heimall
J Clin Immunol. Author manuscript; available in PMC 2021 Aug 26.
Published in final edited form as: J Clin Immunol. 2021 Jan; 41(1): 38–50. Published online 2020 Oct 2. doi: 10.1007/s10875-020-00865-9
Correction in:
J Clin Immunol. 2020 Dec 3
PMCID:
PMC8388237
AbstractArticlePDF–868K
2.
A Case of Severe Combined Immunodeficiency Missed by Newborn Screening
Maleewan Kitcharoensakkul, Jahnavi Aluri, Ibrahim Elsharkawi, Ashley Steed, Christopher D. Putnam, Anil K. Swayampakula, Megan A. Cooper, Jeffrey J. Bednarski
J Clin Immunol. 2021; 41(6): 1352–1355. Published online 2021 Mar 12. doi: 10.1007/s10875-021-01020-8
PMCID:
PMC7954206
ArticlePDF–1.3M
3.
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting
Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper
Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3
PMCID:
PMC7497289
AbstractArticlePDF–2.5M
4.
Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency
Elina A. Tuovinen, Juha Grönholm, Tiina Öhman, Sakari Pöysti, Raine Toivonen, Anna Kreutzman, Kaarina Heiskanen, Luca Trotta, Sanna Toiviainen-Salo, John M. Routes, James Verbsky, Satu Mustjoki, Janna Saarela, Juha Kere, Markku Varjosalo, Arno Hänninen, Mikko R. J. Seppänen
J Clin Immunol. 2020; 40(3): 503–514. Published online 2020 Feb 19. doi: 10.1007/s10875-020-00745-2
PMCID:
PMC7142052
AbstractArticlePDF–1.7M
5.
Intact B-Cell Signaling and Function With Host B-Cells 47 Years After Transplantation for X-SCID
Christin Deal, Timothy J. Thauland, E. Richard Stiehm, Maria I. Garcia-Lloret, Manish J. Butte
Front Immunol. 2020; 11: 415. Published online 2020 Mar 20. doi: 10.3389/fimmu.2020.00415
PMCID:
PMC7099040
AbstractArticlePDF–579K
6.
The IL‐2RG R328X nonsense mutation allows partial STAT‐5 phosphorylation and defines a critical region involved in the leaky‐SCID phenotype
A. Arcas‐García, M. Garcia‐Prat, M. Magallón‐Lorenz, A. Martín‐Nalda, O. Drechsel, S. Ossowski, L. Alonso, J. G. Rivière, P. Soler‐Palacín, R. Colobran, J. Sayós, M. Martínez‐Gallo, C. Franco‐Jarava
Clin Exp Immunol. 2020 Apr; 200(1): 61–72. Published online 2020 Jan 19. doi: 10.1111/cei.13405
PMCID:
PMC7066387
AbstractArticlePDF–730K
7.
Gene therapy for severe combined immunodeficiencies and beyond
Alain Fischer, Salima Hacein-Bey-Abina
J Exp Med. 2020 Feb 3; 217(2): e20190607. Published online 2019 Dec 11. doi: 10.1084/jem.20190607
PMCID:
PMC7041706
AbstractArticlePDF–1.3M
8.
Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1
E. Mamcarz, S. Zhou, T. Lockey, H. Abdelsamed, S.J. Cross, G. Kang, Z. Ma, J. Condori, J. Dowdy, B. Triplett, C. Li, G. Maron, J.C. Aldave Becerra, J.A. Church, E. Dokmeci, J.T. Love, A.C. da Matta Ain, H. van der Watt, X. Tang, W. Janssen, B.Y. Ryu, S.S. De Ravin, M.J. Weiss, B. Youngblood, J.R. Long‑Boyle, S. Gottschalk, M.M. Meagher, H.L. Malech, J.M. Puck, M.J. Cowan, B.P. Sorrentino
N Engl J Med. Author manuscript; available in PMC 2019 Oct 18.
Published in final edited form as: N Engl J Med. 2019 Apr 18; 380(16): 1525–1534. doi: 10.1056/NEJMoa1815408
PMCID:
PMC6636624
AbstractArticlePDF–531K
9.
Gene correction for SCID-X1 in long-term hematopoietic stem cells
Mara Pavel-Dinu, Volker Wiebking, Beruh T. Dejene, Waracharee Srifa, Sruthi Mantri, Carmencita E. Nicolas, Ciaran Lee, Gang Bao, Eric J. Kildebeck, Niraj Punjya, Camille Sindhu, Matthew A. Inlay, Nivedita Saxena, Suk See DeRavin, Harry Malech, Maria Grazia Roncarolo, Kenneth I. Weinberg, Matthew H. Porteus
Nat Commun. 2019; 10: 1634. Published online 2019 Apr 9. doi: 10.1038/s41467-019-09614-y
Correction in:
Nat Commun. 2019; 10: 2021.
Correction in:
Nat Commun. 2019; 10: 5624.
PMCID:
PMC6456568
AbstractArticlePDF–1.3M
10.
Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010–2017
George S. Amatuni, Robert J. Currier, Joseph A. Church, Tracey Bishop, Elena Grimbacher, Alan Anh-Chuong Nguyen, Rajni Agarwal-Hashmi, Constantino P. Aznar, Manish J. Butte, Morton J. Cowan, Morna J. Dorsey, Christopher C. Dvorak, Neena Kapoor, Donald B. Kohn, M. Louise Markert, Theodore B. Moore, Stanley J. Naides, Stanley Sciortino, Lisa Feuchtbaum, Rasoul A. Koupaei, Jennifer M. Puck
Pediatrics. 2019 Feb; 143(2): e20182300. Published online 2019 Feb 1. doi: 10.1542/peds.2018-2300
PMCID:
PMC6361357
AbstractArticlePDF–1.3M
11.
IL2RG hypomorphic mutation: identification of a novel pathogenic mutation in exon 8 and a review of the literature
Che Kang Lim, Hassan Abolhassani, Sofia K. Appelberg, Mikael Sundin, Lennart Hammarström
Allergy Asthma Clin Immunol. 2019; 15: 2. Published online 2019 Jan 5. doi: 10.1186/s13223-018-0317-y
PMCID:
PMC6320602
AbstractArticlePDF–1.2M
12.
HLA Match Likelihoods for Hematopoietic Stem-Cell Grafts in the U.S. Registry
Loren Gragert, Mary Eapen, Eric Williams, John Freeman, Stephen Spellman, Robert Baitty, Robert Hartzman, J. Douglas Rizzo, Mary Horowitz, Dennis Confer, Martin Maiers
N Engl J Med. Author manuscript; available in PMC 2018 May 23.
Published in final edited form as: N Engl J Med. 2014 Jul 24; 371(4): 339–348. doi: 10.1056/NEJMsa1311707
PMCID:
PMC5965695
AbstractArticlePDF–808K
13.
Rapid immune reconstitution of SCID-X1 canines after G-CSF/AMD3100 mobilization and in vivo gene therapy
Olivier Humbert, Frieda Chan, Yogendra S. Rajawat, Troy R. Torgerson, Christopher R. Burtner, Nicholas W. Hubbard, Daniel Humphrys, Zachary K. Norgaard, Patricia O’Donnell, Jennifer E. Adair, Grant D. Trobridge, Andrew M. Scharenberg, Peter J. Felsburg, David J. Rawlings, Hans-Peter Kiem
Blood Adv. 2018 May 8; 2(9): 987–999. Published online 2018 May 2. doi: 10.1182/bloodadvances.2018016451
PMCID:
PMC5942001
AbstractArticlePDF–1.7M
14.
Immune reconstitution and survival of 100 SCID patients post–hematopoietic cell transplant: a PIDTC natural history study
Jennifer Heimall, Brent R. Logan, Morton J. Cowan, Luigi D. Notarangelo, Linda M. Griffith, Jennifer M. Puck, Donald B. Kohn, Michael A. Pulsipher, Suhag Parikh, Caridad Martinez, Neena Kapoor, Richard O’Reilly, Michael Boyer, Sung-Yun Pai, Frederick Goldman, Lauri Burroughs, Sharat Chandra, Morris Kletzel, Monica Thakar, James Connelly, Geoff Cuvelier, Blachy J. Davila Saldana, Evan Shereck, Alan Knutsen, Kathleen E. Sullivan, Kenneth DeSantes, Alfred Gillio, Elie Haddad, Aleksandra Petrovic, Troy Quigg, Angela R. Smith, Elizabeth Stenger, Ziyan Yin, William T. Shearer, Thomas Fleisher, Rebecca H. Buckley, Christopher C. Dvorak
Blood. 2017 Dec 21; 130(25): 2718–2727. Prepublished online 2017 Oct 11. doi: 10.1182/blood-2017-05-781849
PMCID:
PMC5746165
AbstractArticle
15.
Lentiviral hematopoietic stem cell gene therapy for X-linked severe combined immunodeficiency
Suk See De Ravin, Xiaolin Wu, Susan Moir, Lela Kardava, Sandra Anaya-O’Brien, Nana Kwatemaa, Patricia Littel, Narda Theobald, Uimook Choi, Ling Su, Martha Marquesen, Dianne Hilligoss, Janet Lee, Clarissa M. Buckner, Kol A. Zarember, Geraldine O’Connor, Daniel McVicar, Douglas Kuhns, Robert E. Throm, Sheng Zhou, Luigi D. Notarangelo, I. Celine Hanson, Mort J. Cowan, Elizabeth Kang, Coleen Hadigan, Michael Meagher, John T. Gray, Brian P. Sorrentino, Harry L. Malech
Sci Transl Med. Author manuscript; available in PMC 2017 Aug 15.
Published in final edited form as: Sci Transl Med. 2016 Apr 20; 8(335): 335ra57. doi: 10.1126/scitranslmed.aad8856
Correction in:
Sci Transl Med. 2016 Jun 1; 8(341): 341er5.
PMCID:
PMC5557273
AbstractArticlePDF–2.0M
16.
T-Cell Lymphopenia Detected by Newborn Screening in Two Siblings with an Xq13.1 Duplication
Xavier Rios, Ivan K. Chinn, Jordan S. Orange, Celine I. Hanson, Nicholas L. Rider
Front Pediatr. 2017; 5: 156. Published online 2017 Jul 18. doi: 10.3389/fped.2017.00156
PMCID:
PMC5513981
AbstractArticlePDF–451K
17.
Treatment of Infants Identified by Newborn Screening for Severe Combined Immunodeficiency
Morna J. Dorsey, Christopher C. Dvorak, Morton J. Cowan, Jennifer M. Puck
J Allergy Clin Immunol. Author manuscript; available in PMC 2018 Mar 1.
Published in final edited form as: J Allergy Clin Immunol. 2017 Mar; 139(3): 733–742. doi: 10.1016/j.jaci.2017.01.005
PMCID:
PMC5385855
AbstractArticlePDF–938K
18.
Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm
Genet Med. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30
PMCID:
PMC4544753
AbstractArticlePDF–960K
19.
Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States
Antonia Kwan, Roshini S. Abraham, Robert Currier, Amy Brower, Karen Andruszewski, Jordan K. Abbott, Mei Baker, Mark Ballow, Louis E. Bartoshesky, Vincent R. Bonagura, Francisco A. Bonilla, Charles Brokopp, Edward Brooks, Michele Caggana, Jocelyn Celestin, Joseph A. Church, Anne Marie Comeau, James A. Connelly, Morton J. Cowan, Charlotte Cunningham-Rundles, Trivikram Dasu, Nina Dave, Maria T. De La Morena, Ulrich Duffner, Chin-To Fong, Lisa Forbes, Debra Freedenberg, Erwin W. Gelfand, Jaime E. Hale, I. Celine Hanson, Beverly N. Hay, Diana Hu, Anthony Infante, Daisy Johnson, Neena Kapoor, Denise M. Kay, Donald B. Kohn, Rachel Lee, Heather Lehman, Zhili Lin, Fred Lorey, Aly Abdel-Mageed, Adrienne Manning, Sean McGhee, Theodore B. Moore, Stanley J. Naides, Luigi D. Notarangelo, Jordan S. Orange, Sung-Yun Pai, Matthew Porteus, Ray Rodriguez, Neil Romberg, John Routes, Mary Ruehle, Arye Rubenstein, Carlos A. Saavedra-Matiz, Ginger Scott, Patricia M. Scott, Elizabeth Secord, Christine Seroogy, William T. Shearer, Subhadra Siegel, Stacy K. Silvers, E. Richard Stiehm, Robert W. Sugerman, John L. Sullivan, Susan Tanksley, Millard L. Tierce, IV, James Verbsky, Beth Vogel, Rosalyn Walker, Kelly Walkovich, Jolan E. Walter, Richard L. Wasserman, Michael S. Watson, Geoffrey A. Weinberg, Leonard B. Weiner, Heather Wood, Anne B. Yates, Jennifer M. Puck
JAMA. Author manuscript; available in PMC 2015 Aug 20.
Published in final edited form as: JAMA. 2014 Aug 20; 312(7): 729–738. doi: 10.1001/jama.2014.9132
Correction in:
volume 312 on page 2169
PMCID:
PMC4492158
AbstractArticlePDF–301K
20.
TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review
Jet van der Spek, Rolf H. H. Groenwold, Mirjam van der Burg, Joris M. van Montfrans
J Clin Immunol. 2015; 35(4): 416–430. Published online 2015 Apr 17. doi: 10.1007/s10875-015-0152-6
PMCID:
PMC4438204
AbstractArticlePDF–645K

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