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Isabelle Callebaut
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Journal Articles

DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity

Charlotte Boussard, Laure Delage, Tania Gajardo, Alexandre Kauskot, Maxime Batignes, Nicolas Goudin, Marie-Claude Stolzenberg, Camille Brunaud, Patricia Panikulam, Quentin Riller, Maryse Moya-Nilges, Jean Solarz, Christelle Repérant, Béatrice Durel, Jean-Claude Bordet, Olivier Pellé, Corinne Lebreton, Aude Magérus, Vithura Pirabakaran, Pablo Vargas, Sébastien Dupichaud, Marie Jeanpierre, Angélique Vinit, Mohammed Zarhrate, Cécile Masson, Nathalie Aladjidi, Peter D. Arkwright, Brigitte Bader-Meunier, Sandrine Baron Joly, Joy Benadiba, Elise Bernard, Dominique Berrebi, Christine Bodemer, Martin Castelle, Fabienne Charbit-Henrion, Marwa Chbihi, Agathe Debray, Philippe Drabent, Sylvie Fraitag, Miguel Hié, Judith Landman-Parker, Ludovic Lhermitte, Despina Moshous, Pierre Rohrlich, Frank Ruemmele, Anne Welfringer-Morin, Maud Tusseau, Alexandre Belot, Nadine Cerf-Bensussan, Marie Roelens, Capucine Picard, Bénédicte Neven, Alain Fischer, Isabelle Callebaut, Mickaël Ménager, Fernando E. Sepulveda, Frédéric Adam, Frédéric Rieux-Laucat
Journal: Blood
Blood (2023) 141 (22): 2713–2726.
https://doi.org/10.1182/blood.2022018486
Published: 2023
Includes: Supplemental data
Journal Articles

Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects

Laëtitia Kermasson, Dmitri Churikov, Aya Awad, Riham Smoom, Elodie Lainey, Fabien Touzot, Séverine Audebert-Bellanger, Sophie Haro, Lauréline Roger, Emilia Costa, Maload Mouf, Adriana Bottero, Matias Oleastro, Chrystelle Abdo, Jean-Pierre de Villartay, Vincent Géli, Yehuda Tzfati, Isabelle Callebaut, Silvia Danielian, Gabriela Soares, Caroline Kannengiesser, Patrick Revy
Journal: Blood
Blood (2022) 139 (16): 2427–2440.
https://doi.org/10.1182/blood.2021010791
Published: 2022
Includes: Supplemental data
Journal Articles

Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome

Christine Bellanné-Chantelot, Barbara Schmaltz-Panneau, Caroline Marty, Odile Fenneteau, Isabelle Callebaut, Séverine Clauin, Aurélie Docet, Gandhi-Laurent Damaj, Thierry Leblanc, Isabelle Pellier, Cécile Stoven, Sylvie Souquere, Iléana Antony-Debré, Blandine Beaupain, Nathalie Aladjidi, Vincent Barlogis, Frédéric Bauduer, Philippe Bensaid, Odile Boespflug-Tanguy, Claire Berger, Yves Bertrand, Liana Carausu, Claire Fieschi, Claire Galambrun, Aline Schmidt, Hubert Journel, Françoise Mazingue, Brigitte Nelken, Thuan Chong Quah, Eric Oksenhendler, Marie Ouachée, Marlène Pasquet, Véronique Saada, Felipe Suarez, Gérard Pierron, William Vainchenker, Isabelle Plo, Jean Donadieu
Journal: Blood
Blood (2018) 132 (12): 1318–1331.
https://doi.org/10.1182/blood-2017-12-820308
Published: 2018
Includes: Supplemental data
Journal Articles

Mutations in SRP54 Gene Cause Severe Primary Neutropenia As Well As Shwachman-Diamond-like Syndrome

Christine Bellanné-Chantelot, PharmD, PhD, Caroline Marty, PhD, Barbara Schmaltz-Panneau, PhD, Odile Fenneteau, MD, Isabelle Callebaut, PhD, Séverine Clauin, Aurélie Docet, Gandhi Damaj, MD, Thierry Leblanc, MD, Isabelle Pellier, MD, Cécile Stoven, MD, Sylvie Souquere, PhD, Iléana Antony-Debre, PhD, Blandine Beaupain, MsC, Nathalie Aladjidi, MD, Vincent Barlogis, MD, Frederic Bauduer, MD PhD, Philippe Bensaid, MD, Odile Boesflug-Tanguy, MDPhD, Claire Berger, MD, Yves Bertrand, MD, Liana Carausu, MD, Claire Fieschi, MD PhD, Claire Galambrun, MD, Aline Schmidt, MD, Hubert Journel, MD, Francoise Mazingue, MD, Brigitte Nelken, MD, Thuan Chong Quah, MD, Eric Oksenhendler, MD, Marie Ouachee, MD, Marlène Pasquet, MD, Felipe Suarez, MDPhD, Gérard Pierron, PhD, William Vainchenker, MD PhD, Isabelle Plo, PhD, Jean Donadieu, MD
Journal: Blood
Blood (2017) 130 (Supplement 1): LBA-3.
https://doi.org/10.1182/blood.V130.Suppl_1.LBA-3.LBA-3
Published: 2017
Journal Articles

Heterozygous RTEL1 Variants Are Associated with Bone Marrow Failure and Abnormal Clinical Phenotype

Shreyans Gandhi, MD DNB, MRCP, FRCPath, Jie Jiang, Mariam Ibanez, Isabelle Callebaut, Judith CW Marsh, Ghulam J Mufti, MD
Journal: Blood
Blood (2016) 128 (22): 1043.
https://doi.org/10.1182/blood.V128.22.1043.1043
Published: 2016
Journal Articles

The munc13-4–rab27 complex is specifically required for tethering secretory lysosomes at the plasma membrane

Edo D. Elstak, Maaike Neeft, Nadine T. Nehme, Jarno Voortman, Marc Cheung, Monireh Goodarzifard, Hans C. Gerritsen, Paul M. P. van Bergen en Henegouwen, Isabelle Callebaut, Geneviève de Saint Basile, Peter van der Sluijs
Journal: Blood
Blood (2011) 118 (6): 1570–1578.
https://doi.org/10.1182/blood-2011-02-339523
Published: 2011
Includes: Multimedia, Supplemental data
Journal Articles

Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activity

Clinical Trials & Observations
Jérôme Feldmann, Gaël Ménasché, Isabelle Callebaut, Véronique Minard-Colin, Brigitte Bader-Meunier, Laurence Le Clainche, Alain Fischer, Françoise Le Deist, Marc Tardieu, Geneviève de Saint Basile
Journal: Blood
Blood (2005) 105 (7): 2658–2663.
https://doi.org/10.1182/blood-2004-09-3590
Published: 2005
Journal Articles

Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU

Bénédicte Neven, Isabelle Callebaut, Anne-Marie Prieur, Jérôme Feldmann, Christine Bodemer, Loredana Lepore, Beata Derfalvi, Suata Benjaponpitak, Richard Vesely, Marie Jose Sauvain, Stefan Oertle, Roger Allen, Gareth Morgan, Arndt Borkhardt, Clare Hill, Janet Gardner-Medwin, Alain Fischer, Geneviève de Saint Basile
Journal: Blood
Blood (2004) 103 (7): 2809–2815.
https://doi.org/10.1182/blood-2003-07-2531
Published: 2004