U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 42

1.
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
2.
ESTABLISHING DIAGNOSTIC CRITERIA FOR SCID, LEAKY SCID, AND OMENN SYNDROME: THE PRIMARY IMMUNE DEFICIENCY TREATMENT CONSORTIUM EXPERIENCE
William T. Shearer, Elizabeth Dunn, Luigi D. Notarangelo, Christopher C. Dvorak, Jennifer M. Puck, Brent R. Logan, Linda M. Griffith, Donald B. Kohn, Richard J. O’Reilly, Thomas A. Fleisher, Sung-Yun Pai, Caridad A. Martinez, Rebecca H. Buckley, Morton J. Cowan
J Allergy Clin Immunol. Author manuscript; available in PMC 2015 Apr 1.
Published in final edited form as: J Allergy Clin Immunol. 2014 Apr; 133(4): 1092–1098. Published online 2013 Nov 28. doi: 10.1016/j.jaci.2013.09.044
PMCID:
PMC3972266
AbstractArticlePDF–100K
3.
Abnormalities of Thymic Stroma may Contribute to Immune Dysregulation in Murine Models of Leaky Severe Combined Immunodeficiency
Francesca Rucci, Pietro Luigi Poliani, Stefano Caraffi, Tiziana Paganini, Elena Fontana, Silvia Giliani, Frederick W. Alt, Luigi Daniele Notarangelo
Front Immunol. 2011; 2: 15. Published online 2011 May 11. doi: 10.3389/fimmu.2011.00015
PMCID:
PMC3150116
AbstractArticlePDF–2.1M
4.
Leaky severe combined immunodeficiency and aberrant DNA rearrangements due to a hypomorphic RAG1 mutation
William Giblin, Monalisa Chatterji, Gerwin Westfield, Tehmina Masud, Brian Theisen, Hwei-Ling Cheng, Jeffrey DeVido, Frederick W. Alt, David O. Ferguson, David G. Schatz, JoAnn Sekiguchi
Blood. 2009 Mar 26; 113(13): 2965–2975. Prepublished online 2009 Jan 6. doi: 10.1182/blood-2008-07-165167
PMCID:
PMC2662642
AbstractArticle
5.
V(D)J recombination in peritoneal B cells of leaky scid mice
J Exp Med. 1993 Dec 1; 178(6): 1981–1994. doi: 10.1084/jem.178.6.1981
PMCID:
PMC2191267
SummaryPDF–1.7M
6.
Evidence of functional lymphocytes in some (leaky) scid mice
J Exp Med. 1988 Mar 1; 167(3): 1016–1033. doi: 10.1084/jem.167.3.1016
PMCID:
PMC2188881
SummaryPDF–1.3M
7.
A human anti-dsDNA monoclonal antibody caused hyaline thrombi formation in kidneys of ‘leaky’ SCID mice
L J Mason, C T Ravirajan, D S Latchman, D A Isenberg
Clin Exp Immunol. 2001 Oct; 126(1): 137–142. doi: 10.1046/j.1365-2249.2001.01651.x
PMCID:
PMC1906170
AbstractArticlePDF–522K
8.
Partial correction of immunodeficiency by lentiviral vector gene therapy in mouse models carrying Rag1 hypomorphic mutations
Maria Carmina Castiello, Martina Di Verniere, Elena Draghici, Elena Fontana, Sara Penna, Lucia Sereni, Alessandra Zecchillo, Denise Minuta, Paolo Uva, Marco Zahn, Irene Gil-Farina, Andrea Annoni, Silvia Iaia, Lisa M. Ott de Bruin, Luigi D. Notarangelo, Karin Pike-Overzet, Frank J. T. Staal, Anna Villa, Valentina Capo
Front Immunol. 2023; 14: 1268620. Published online 2023 Nov 13. doi: 10.3389/fimmu.2023.1268620
PMCID:
PMC10679457
AbstractArticlePDF–10M
9.
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)
Carsten Speckmann, Uta Nennstiel, Manfred Hönig, Michael H. Albert, Sujal Ghosh, Catharina Schuetz, Inken Brockow, Friederike Hörster, Tim Niehues, Stephan Ehl, Volker Wahn, Stephan Borte, Kai Lehmberg, Ulrich Baumann, Rita Beier, Renate Krüger, Shahrzad Bakhtiar, Joern-Sven Kuehl, Christian Klemann, Udo Kontny, Ursula Holzer, Andrea Meinhardt, Henner Morbach, Nora Naumann-Bartsch, Tobias Rothoeft, Alexandra Y. Kreins, E. Graham Davies, Dominik T. Schneider, Horst v. Bernuth, Thomas Klingebiel, Georg F. Hoffmann, Ansgar Schulz, Fabian Hauck
J Clin Immunol. 2023; 43(5): 965–978. Published online 2023 Feb 27. doi: 10.1007/s10875-023-01450-6
PMCID:
PMC9968632
AbstractArticlePDF–1.1M
10.
Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations
Saul Oswaldo Lugo-Reyes, Nina Pastor, Edith González-Serrano, Marco Antonio Yamazaki-Nakashimada, Selma Scheffler-Mendoza, Laura Berron-Ruiz, Guillermo Wakida, Maria Enriqueta Nuñez-Nuñez, Ana Paola Macias-Robles, Aide Tamara Staines-Boone, Edna Venegas-Montoya, Carmen Alaez-Verson, Carolina Molina-Garay, Luis Leonardo Flores-Lagunes, Karol Carrillo-Sanchez, Julie Niemela, Sergio D. Rosenzweig, Paul Gaytan, Jorge A. Yañez, Ivan Martinez-Duncker, Luigi D. Notarangelo, Sara Espinosa-Padilla, Mario Ernesto Cruz-Munoz
J Clin Immunol. Author manuscript; available in PMC 2022 Feb 1.
Published in final edited form as: J Clin Immunol. 2021 Aug; 41(6): 1291–1302. Published online 2021 May 5. doi: 10.1007/s10875-021-01052-0
Correction in:
J Clin Immunol. 2021 Jun 16
PMCID:
PMC8319791
AbstractArticlePDF–1.4M
11.
Ten Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Massachusetts
Jaime E. Hale, Craig D. Platt, Francisco A. Bonilla, Beverly N. Hay, John L. Sullivan, Alicia M. Johnston, Mark S. Pasternack, Paul E. Hesterberg, H. Cody Meissner, Ellen R. Cooper, Sara Barmettler, Jocelyn R. Farmer, Donna Fisher, Jolan E. Walter, Nancy J. Yang, Inderneel Sahai, Roger B. Eaton, Alfred DeMaria, Luigi D. Notarangelo, Sung-Yun Pai, Anne Marie Comeau
J Allergy Clin Immunol Pract. Author manuscript; available in PMC 2022 May 1.
Published in final edited form as: J Allergy Clin Immunol Pract. 2021 May; 9(5): 2060–2067.e2. Published online 2021 Feb 16. doi: 10.1016/j.jaip.2021.02.006
PMCID:
PMC8113135
AbstractArticlePDF–870K
12.
Leaky severe combined immunodeficiency in mice lacking non-homologous end joining factors XLF and MRI
Sergio Castañeda-Zegarra, Qindong Zhang, Amin Alirezaylavasani, Marion Fernandez-Berrocal, Rouan Yao, Valentyn Oksenych
Aging (Albany NY) 2020 Dec 15; 12(23): 23578–23597. Published online 2020 Dec 7. doi: 10.18632/aging.202346
PMCID:
PMC7762521
AbstractArticlePDF–2.2M
13.
Innovative Cell-Based Therapies and Conditioning to Cure RAG Deficiency
Anna Villa, Valentina Capo, Maria Carmina Castiello
Front Immunol. 2020; 11: 607926. Published online 2020 Nov 19. doi: 10.3389/fimmu.2020.607926
PMCID:
PMC7711106
AbstractArticlePDF–528K
14.
The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries
Svetlana O. Sharapova, Małgorzata Skomska-Pawliszak, Yulia A. Rodina, Beata Wolska-Kuśnierz, Nel Dabrowska-Leonik, Bozena Mikołuć, Olga E. Pashchenko, Srdjan Pasic, Tomáš Freiberger, Tomáš Milota, Renata Formánková, Anna Szaflarska, Maciej Siedlar, Tadej Avčin, Gašper Markelj, Peter Ciznar, Krzysztof Kalwak, Sylwia Kołtan, Teresa Jackowska, Katarzyna Drabko, Alenka Gagro, Małgorzata Pac, Elissaveta Naumova, Snezhina Kandilarova, Katarzyna Babol-Pokora, Dzmitry S. Varabyou, Barbara H. Barendregt, Elena V. Raykina, Tatiana V. Varlamova, Anna V. Pavlova, Hana Grombirikova, Maruša Debeljak, Irina V. Mersiyanova, Anastasiia V. Bondarenko, Liudmyla I. Chernyshova, Larysa V. Kostyuchenko, Marina N. Guseva, Jelena Rascon, Audrone Muleviciene, Egle Preiksaitiene, Christoph B. Geier, Alexander Leiss-Piller, Yasuhiro Yamazaki, Tomoki Kawai, Jolan E. Walter, Irina V. Kondratenko, Anna Šedivá, Mirjam van der Burg, Natalia B. Kuzmenko, Luigi D. Notarangelo, Ewa Bernatowska, Olga V. Aleinikova
Front Immunol. 2020; 11: 900. Published online 2020 Jun 10. doi: 10.3389/fimmu.2020.00900
PMCID:
PMC7325958
AbstractArticlePDF–1.3M
15.
Natural Clearance of Prolonged VDPV Infection in a Child With Primary Immunodeficiency Disorder
Madhu Chhanda Mohanty, Manisha Ranjan Madkaikar, Mukesh Desai, Jahnavi Aluri, Swapnil Yashwant Varose, Prasad Taur, Deepa Kailash Sharma, Uma Prajwal Nalavade, Sneha Vijay Rane, Maya Gupta, Snehal Shabarish, Aparna Dalvi, Jagadish Mohanrao Deshpande
Front Immunol. 2019; 10: 1567. Published online 2019 Jul 23. doi: 10.3389/fimmu.2019.01567
PMCID:
PMC6663979
AbstractArticlePDF–989K
16.
Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction
Leen Moens, Mieke Gouwy, Barbara Bosch, Oleksandr Pastukhov, Alejandro Nieto-Patlàn, Ulrich Siler, Giorgia Bucciol, Djalila Mekahli, François Vermeulen, Lars Desmet, Sophie Maebe, Helena Flipts, Anniek Corveleyn, Despina Moshous, Pierre Philippet, Stuart G. Tangye, Bertrand Boisson, Jean-Laurent Casanova, Benoit Florkin, Sofie Struyf, Janine Reichenbach, Jacinta Bustamante, Luigi D. Notarangelo, Isabelle Meyts
J Clin Immunol. 2019; 39(3): 298–308. Published online 2019 Mar 5. doi: 10.1007/s10875-019-00603-w
PMCID:
PMC6647034
AbstractArticlePDF–1.0M
17.
Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia
Jennifer M. Puck
Immunol Rev. Author manuscript; available in PMC 2020 Jan 1.
Published in final edited form as: Immunol Rev. 2019 Jan; 287(1): 241–252. doi: 10.1111/imr.12729
PMCID:
PMC6324582
AbstractArticlePDF–1.3M
18.
SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery
Elie Haddad, Brent R. Logan, Linda M. Griffith, Rebecca H. Buckley, Roberta E. Parrott, Susan E. Prockop, Trudy N. Small, Jessica Chaisson, Christopher C. Dvorak, Megan Murnane, Neena Kapoor, Hisham Abdel-Azim, Imelda C. Hanson, Caridad Martinez, Jack J. H. Bleesing, Sharat Chandra, Angela R. Smith, Matthew E. Cavanaugh, Soma Jyonouchi, Kathleen E. Sullivan, Lauri Burroughs, Suzanne Skoda-Smith, Ann E. Haight, Audrey G. Tumlin, Troy C. Quigg, Candace Taylor, Blachy J. Dávila Saldaña, Michael D. Keller, Christine M. Seroogy, Kenneth B. Desantes, Aleksandra Petrovic, Jennifer W. Leiding, David C. Shyr, Hélène Decaluwe, Pierre Teira, Alfred P. Gillio, Alan P. Knutsen, Theodore B. Moore, Morris Kletzel, John A. Craddock, Victor Aquino, Jeffrey H. Davis, Lolie C. Yu, Geoffrey D. E. Cuvelier, Jeffrey J. Bednarski, Frederick D. Goldman, Elizabeth M. Kang, Evan Shereck, Matthew H. Porteus, James A. Connelly, Thomas A. Fleisher, Harry L. Malech, William T. Shearer, Paul Szabolcs, Monica S. Thakar, Mark T. Vander Lugt, Jennifer Heimall, Ziyan Yin, Michael A. Pulsipher, Sung-Yun Pai, Donald B. Kohn, Jennifer M. Puck, Morton J. Cowan, Richard J. O'Reilly, Luigi D. Notarangelo
Blood. 2018 Oct 25; 132(17): 1737–1749. Prepublished online 2018 Aug 28. doi: 10.1182/blood-2018-03-840702
PMCID:
PMC6202916
AbstractArticle
19.
DNA recombination defects in Kuwait: Clinical, immunologic and genetic profile
Waleed Al-Herz, Michel J. Massaad, Janet Chou, Luigi D. Notarangelo, Raif S. Geha
Clin Immunol. 2018 Feb; 187: 68–75. Published online 2017 Oct 16. doi: 10.1016/j.clim.2017.10.006
PMCID:
PMC5826831
AbstractArticlePDF–390K
20.
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

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center