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A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency

Romane Thouenon, Loïc Chentout, Nidia Moreno-Corona, Lucie Poggi, Emilia Puig Lombardi, Benedicte Hoareau, Yohann Schmitt, Chantal Lagresle-Peyrou, Jacinta Bustamante, Isabelle André, Marina Cavazzana, Anne Durandy, Jean-Laurent Casanova, Lionel Galicier, Jehane Fadlallah, Alain Fischer, Sven Kracker

J Exp Med (2023) 220 (6): e20221292.

DOI: https://doi.org/10.1084/jem.20221292

Published: 14 March 2023

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Includes: Supplementary data

Journal Articles

Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells

J Exp Med (2013) 210 (12): 2739–2753.

DOI: https://doi.org/10.1084/jem.20130323

Published: 11 November 2013

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Includes: Supplementary data

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A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination

J Exp Med (2013) 210 (12): 2503–2513.

DOI: https://doi.org/10.1084/jem.20130168

Published: 21 October 2013

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Includes: Supplementary data

Journal Articles

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”)

Jana Pachlopnik Schmid, Roxane Lemoine, Nadine Nehme, Valéry Cormier-Daire, Patrick Revy, Franck Debeurme, Marianne Debré, Patrick Nitschke, Christine Bole-Feysot, Laurence Legeai-Mallet, Annick Lim, Jean-Pierre de Villartay, Capucine Picard, Anne Durandy, Alain Fischer, Geneviève de Saint Basile

J Exp Med (2012) 209 (13): 2323–2330.

DOI: https://doi.org/10.1084/jem.20121303

Published: 10 December 2012

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Includes: Supplementary data

Journal Articles

Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis

J Exp Med (2012) 209 (2): 291–305.

DOI: https://doi.org/10.1084/jem.20110325

Published: 06 February 2012

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Includes: Supplementary data

Journal Articles

Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination

Sophie Péron, Ayse Metin, Pauline Gardès, Marie-Alexandra Alyanakian, Eamonn Sheridan, Christian Peter Kratz, Alain Fischer, Anne Durandy

J Exp Med (2008) 205 (11): 2465–2472.

DOI: https://doi.org/10.1084/jem.20080789

Published: 29 September 2008

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Includes: Supplementary data

Journal Articles

A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair

Sophie Péron, Qiang Pan-Hammarström, Kohsuke Imai, Likun Du, Nadine Taubenheim, Ozden Sanal, Laszlo Marodi, Anne Bergelin-Besançon, Malika Benkerrou, Jean-Pierre de Villartay, Alain Fischer, Patrick Revy, Anne Durandy

J Exp Med (2007) 204 (5): 1207–1216.

DOI: https://doi.org/10.1084/jem.20070087

Published: 07 May 2007

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Journal Articles

X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production

J Exp Med (2006) 203 (7): 1745–1759.

DOI: https://doi.org/10.1084/jem.20060085

Published: 03 July 2006

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Journal Articles

B cells from hyper-IgM patients carrying UNG mutations lack ability to remove uracil from ssDNA and have elevated genomic uracil

Bodil Kavli, Sonja Andersen, Marit Otterlei, Nina B. Liabakk, Kohsuke Imai, Alain Fischer, Anne Durandy, Hans E. Krokan, Geir Slupphaug

J Exp Med (2005) 201 (12): 2011–2021.

DOI: https://doi.org/10.1084/jem.20050042

Published: 20 June 2005

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Journal Articles

Retinoids Regulate Survival and Antigen Presentation by Immature Dendritic Cells

Frédéric Geissmann, Patrick Revy, Nicole Brousse, Yves Lepelletier, Claudia Folli, Anne Durandy, Pierre Chambon, Michel Dy

J Exp Med (2003) 198 (4): 623–634.

DOI: https://doi.org/10.1084/jem.20030390

Published: 18 August 2003

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Journal Articles

Somatic Hypermutation Shapes the Antibody Repertoire of Memory B Cells in Humans

Eric Meffre, Nadia Catalan, Françoise Seltz, Alain Fischer, Michel C. Nussenzweig, Anne Durandy

J Exp Med (2001) 194 (3): 375–378.

DOI: https://doi.org/10.1084/jem.194.3.375

Published: 06 August 2001

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NARROW

A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency

Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells

A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”)

Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis

Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination

A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair

X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production

B cells from hyper-IgM patients carrying UNG mutations lack ability to remove uracil from ssDNA and have elevated genomic uracil

Retinoids Regulate Survival and Antigen Presentation by Immature Dendritic Cells

Somatic Hypermutation Shapes the Antibody Repertoire of Memory B Cells in Humans

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