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Items: 10

1.
An XRCC4 mutant mouse, a model for human X4 syndrome, reveals interplays with Xlf, PAXX, and ATM in lymphoid development
Benoit Roch, Vincent Abramowski, Olivier Etienne, Stefania Musilli, Pierre David, Jean-Baptiste Charbonnier, Isabelle Callebaut, François D Boussin, Jean-Pierre de Villartay
eLife. 2021; 10: e69353. Published online 2021 Sep 14. doi: 10.7554/eLife.69353
PMCID:
PMC8516412
ArticlePDF–10M
2.
Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India
Pandiarajan Vignesh, Amit Rawat, Rajni Kumrah, Ankita Singh, Anjani Gummadi, Madhubala Sharma, Anit Kaur, Johnson Nameirakpam, Ankur Jindal, Deepti Suri, Anju Gupta, Alka Khadwal, Biman Saikia, Ranjana Walker Minz, Kaushal Sharma, Mukesh Desai, Prasad Taur, Vijaya Gowri, Ambreen Pandrowala, Aparna Dalvi, Neha Jodhawat, Priyanka Kambli, Manisha Rajan Madkaikar, Sagar Bhattad, Stalin Ramprakash, Raghuram CP, Ananthvikas Jayaram, Meena Sivasankaran, Deenadayalan Munirathnam, Sarath Balaji, Aruna Rajendran, Amita Aggarwal, Komal Singh, Fouzia Na, Biju George, Ankit Mehta, Harsha Prasada Lashkari, Ramya Uppuluri, Revathi Raj, Sandip Bartakke, Kirti Gupta, Sreejesh Sreedharanunni, Yumi Ogura, Tamaki Kato, Kohsuke Imai, Koon Wing Chan, Daniel Leung, Osamu Ohara, Shigeaki Nonoyama, Michael Hershfield, Yu-Lung Lau, Surjit Singh
Front Immunol. 2020; 11: 619146. Published online 2021 Feb 8. doi: 10.3389/fimmu.2020.619146
PMCID:
PMC7897653
ArticlePDF–3.9M
3.
TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity
M. Dasouki, A. Jabr, G. AlDakheel, F. Elbadaoui, A. M. Alazami, B. Al‐Saud, R. Arnaout, H. Aldhekri, I. Alotaibi, H. Al‐Mousa, A. Hawwari
Clin Exp Immunol. 2020 Oct; 202(1): 60–71. Published online 2020 Jul 21. doi: 10.1111/cei.13484
PMCID:
PMC7488118
ArticlePDF–306K
4.
An immunocompetent patient with a nonsense mutation in NHEJ1 gene
Hossein Esmaeilzadeh, Mohammad Reza Bordbar, Zahra Hojaji, Parham Habibzadeh, Dorna Afshinfar, Mohammad Miryounesi, Majid Fardaei, Mohammad Ali Faghihi
BMC Med Genet. 2019; 20: 45. Published online 2019 Mar 21. doi: 10.1186/s12881-019-0784-0
PMCID:
PMC6429708
ArticlePDF–1.1M
5.
Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense NHEJ1 Homozygous Mutation
Maria J. Recio, Nerea Dominguez-Pinilla, Melina Soledad Perrig, Carmen Rodriguez Vigil-Iturrate, Nerea Salmón-Rodriguez, Cristina Martinez Faci, María J. Castro-Panete, Javier Blas-Espada, Marta López-Nevado, Raquel Ruiz-Garcia, Rebeca Chaparro-García, Luis M. Allende, Luis Ignacio Gonzalez-Granado
Front Immunol. 2018; 9: 2959. Published online 2019 Jan 7. doi: 10.3389/fimmu.2018.02959
PMCID:
PMC6330288
ArticlePDF–985K
6.
Radiation-Sensitive Severe Combined Immunodeficiency: The arguments for and against conditioning prior to hematopoietic cell transplantation – What to do?
MJ Cowan, AR Gennery
J Allergy Clin Immunol. Author manuscript; available in PMC 2016 Nov 1.
Published in final edited form as: J Allergy Clin Immunol. 2015 Nov; 136(5): 1178–1185. Published online 2015 Jun 6. doi: 10.1016/j.jaci.2015.04.027
PMCID:
PMC4641002
ArticlePDF–658K
7.
Nijmegen breakage syndrome (NBS)
Krystyna H Chrzanowska, Hanna Gregorek, Bożenna Dembowska-Bagińska, Maria A Kalina, Martin Digweed
Orphanet J Rare Dis. 2012; 7: 13. Published online 2012 Feb 28. doi: 10.1186/1750-1172-7-13
PMCID:
PMC3314554
ArticlePDF–1.3M
8.
Overlapping functions between XLF repair protein and 53BP1 DNA damage response factor in end joining and lymphocyte development
Xiangyu Liu, Wenxia Jiang, Richard L. Dubois, Kenta Yamamoto, Zachary Wolner, Shan Zha
Proc Natl Acad Sci U S A. 2012 Mar 6; 109(10): 3903–3908. Published online 2012 Feb 21. doi: 10.1073/pnas.1120160109
PMCID:
PMC3309750
ArticlePDF–1.1M
9.
Radiosensitive Severe Combined Immunodeficiency Disease
Christopher C. Dvorak, Morton J. Cowan
Immunol Allergy Clin North Am. Author manuscript; available in PMC 2011 Feb 1.
Published in final edited form as: Immunol Allergy Clin North Am. 2010 Feb; 30(1): 125. doi: 10.1016/j.iac.2009.10.004
PMCID:
PMC2818388
ArticlePDF–774K
10.
Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome
Francesca Rucci, Luigi D. Notarangelo, Alex Fazeli, Laura Patrizi, Thomas Hickernell, Tiziana Paganini, Kristen M. Coakley, Cynthia Detre, Marton Keszei, Jolan E. Walter, Lauren Feldman, Hwei-Ling Cheng, Pietro Luigi Poliani, Jing H. Wang, Barbara B. Balter, Mike Recher, Emma-Maria Andersson, Shan Zha, Silvia Giliani, Cox Terhorst, Frederick W. Alt, Catherine T. Yan
Proc Natl Acad Sci U S A. 2010 Feb 16; 107(7): 3024–3029. Published online 2010 Feb 1. doi: 10.1073/pnas.0914865107
PMCID:
PMC2840307
ArticlePDF–946K

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