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Citations to this article

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection
Jean-Pierre de Villartay, … , Alain Fischer, Françoise Le Deist
Jean-Pierre de Villartay, … , Alain Fischer, Françoise Le Deist
Published November 1, 2005
Citation Information: J Clin Invest. 2005;115(11):3291-3299. https://doi.org/10.1172/JCI25178.
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Research Article Aging

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection

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Abstract

Amorphic mutations in the recombination activating genes RAG1 and RAG2 have been reported to cause T–B– SCID, whereas hypomorphic mutations led to the expansion of a few autoimmune T cell clones responsible for the Omenn syndrome phenotype. We report here a novel clinical and immunological phenotype associated with recessive RAG1 hypomorphic mutations in 4 patients from 4 different families. The immunological phenotype consists of the oligoclonal expansion of TCRγδ T cells combined with TCRαβ T cell lymphopenia. The clinical phenotype consists of severe, disseminated CMV infection and autoimmune blood cell manifestations. Repertoire studies suggest that CMV infection, in the setting of this particular T cell immunodeficiency, may have driven the TCRγδ T cell clonal expansion. This observation extends the range of clinical and immunological phenotypes associated with RAG mutations, emphasizing the role of the genetic background and microbial environment in determining disease phenotype.

Authors

Jean-Pierre de Villartay, Annick Lim, Hamoud Al-Mousa, Sophie Dupont, Julie Déchanet-Merville, Edith Coumau-Gatbois, Marie-Lise Gougeon, Arnaud Lemainque, Céline Eidenschenk, Emmanuelle Jouanguy, Laurent Abel, Jean-Laurent Casanova, Alain Fischer, Françoise Le Deist

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Total citations by year

Year: 2025 2024 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2010 2009 2008 2007 2005 Total
Citations: 3 2 2 2 6 5 9 9 7 6 9 12 4 5 3 2 5 3 1 1 96
Citation information
This citation data is accumulated from CrossRef, which receives citation information from participating publishers, including this journal. Not all publishers participate in CrossRef, so this information is not comprehensive. Additionally, data may not reflect the most current citations to this article, and the data may differ from citation information available from other sources (for example, Google Scholar, Web of Science, and Scopus).

Citations to this article in year 2015 (9)

Title and authors Publication Year
Broad Spectrum Antibodies to Self-Antigens and Cytokines in RAG Deficiency
Jolan Walter, Lindsey B. Rosen, Krisztian Csomos, Jacob Rosenberg, Divij Mathew, Marton Keszei, Boglarka Ujhazi, Karin Chen, Yu Nee Lee, Irit Tirosh, Kerry Dobbs, Waleed Al-Herz, Morton Cowan, Jennifer Puck, Jack J. Bleesing, Michael S. Grimley, Harry L. Malech, Suk See De Ravin, Andrew R. Gennery, Roshini S. Abraham, Avni Y. Joshi, Thomas G. Boyce, Manish Butte, Kari Christine Nadeau, Imelda Balboni, Kathleen Sullivan, Javeed Akhter, Mehdi Adeli, Reem A. Elfeky, Dalia H. El-Ghoneimy, Ghassan Dbaibo, Rima Wakim, Chiara Azzari, PAOLO PALMA, caterina cancrini, Kelly Capuder, Antonio Condino-Neto, Beatriz T. Costa-Carvalho, Joao Bosco Oliveira, Chaim M Roifman, David Buchbinder, Attila Kumanovics, Jose Franco, Tim Niehues, Catharina Schuetz, Taco Kuijpers, Christina Yee, Janet Chou, Michel Massaad, Raif Geha, Gulbu Uzel, Rebecca Gelman, Steven M. Holland, Mike Recher, Paul J. Utz, Sarah K Browne, Luigi Daniele Notarangelo
Journal of Clinical Investigation 2015
Direct and Indirect Effects of Cytomegalovirus-Induced γδ T Cells after Kidney Transplantation
L Couzi, V Pitard, JF Moreau, P Merville, J Déchanet-Merville
Frontiers in immunology 2015
RAG1 Deficiency May Present Clinically as Selective IgA Deficiency
T Kato, E Crestani, C Kamae, K Honma, T Yokosuka, T Ikegawa, N Nishida, H Kanegane, T Wada, A Yachie, O Ohara, T Morio, LD Notarangelo, K Imai, S Nonoyama
Journal of Clinical Immunology 2015
Compound Heterozygous Mutation of Rag1 Leading to Omenn Syndrome
AG Matthews, CE Briggs, K Yamanaka, TN Small, JL Mooster, FA Bonilla, MA Oettinger, MJ Butte, SD Fugmann
PloS one 2015
Leaky RAG Deficiency in Adult Patients with Impaired Antibody Production against Bacterial Polysaccharide Antigens
CB Geier, A Piller, A Linder, KM Sauerwein, MM Eibl, HM Wolf, F Rieux-Laucat
PloS one 2015
Primary immunodeficiency update
DC Pichard, AF Freeman, EW Cowen
Journal of the American Academy of Dermatology 2015
Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism
Y Okuno, A Hoshino, H Muramatsu, N Kawashima, X Wang, K Yoshida, T Wada, M Gunji, T Toma, T Kato, Y Shiraishi, A Iwata, T Hori, T Kitoh, K Chiba, H Tanaka, M Sanada, Y Takahashi, S Nonoyama, M Ito, S Miyano, S Ogawa, S Kojima, H Kanegane
Journal of Clinical Immunology 2015
Late Onset Hypomorphic RAG2 Deficiency Presentation with Fatal Vaccine-Strain VZV Infection
CM Dutmer, EJ Asturias, C Smith, MK Dishop, DS Schmid, WJ Bellini, I Tirosh, YN Lee, LD Notarangelo, EW Gelfand
Journal of Clinical Immunology 2015
Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine)
SO Sharapova, IE Guryanova, OE Pashchenko, IV Kondratenko, LV Kostyuchenko, YA Rodina, TV Varlamova, AV Bondarenko, LI Chernyshova, MN Gyseva, MV Belevtsev, NV Minakovskaya, OV Aleinikova
Journal of Clinical Immunology 2015

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