Research ArticleGeneticsHematology Open Access | 10.1172/JCI180981

Alexandrine Garrigue,1 Laëtitia Kermasson,2,3 Sandrine Susini,1 Ingrid Fert,1 Christopher B. Mahony,4 Hanem Sadek,1 Sonia Luce,1 Myriam Chouteau,1 Marina Cavazzana,1,5 Emmanuelle Six,1 Marie-Caroline Le Bousse-Kerdilès,6 Adrienne Anginot,6 Jean-Baptiste Souraud,7 Valérie Cormier-Daire,3,8 Marjolaine Willems,9,10 Anne Sirvent,9 Jennifer Russello,11 Isabelle Callebaut,12 Isabelle André,1 Julien Y. Bertrand,4 Chantal Lagresle-Peyrou,1,13 and Patrick Revy2,3

1Institut Imagine, Université Paris Cité, INSERM UMR1163, Laboratory of Human Lymphohematopoiesis, Paris, France.

2INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Équipe Labellisée LIGUE 2023, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4University of Geneva, Faculty of Medicine, Department of Pathology and Immunology, Geneva, Switzerland; Geneva Centre for Inflammation Research, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

5Service de Biothérapie et d’Aphérèse, Hôpital Necker, Groupe Hospitalier Universitaire Ouest, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

6INSERM UMRS-MD 1197, Université de Paris-Saclay, Hôpital Paul Brousse, Villejuif, France.

7Service Anatomo-Pathologie, Hôpital d’Instruction des Armées Begin, Saint-Mandé, France.

8Reference Center for Skeletal Dysplasia, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

9Medical Genetics Department, CHU de Montpellier, Montpellier, France.

10Department of Pediatric Oncology and Haematology, Montpellier Hospital, Montpellier, France.

11Service d’Hématologie Biologique, CHU de Montpellier, Montpellier, France.

12Sorbonne Université, Muséum National d’Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, Paris 75005, France.

13Centre d’Investigation Clinique Biothérapie, Groupe Hospitalier Universitaire Ouest, AP-HP, Paris, France.

Address correspondence to: Chantal Lagresle-Peyrou, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4338; Email: chantal.lagresle@inserm.fr. Or to Patrick Revy, Imagine Institute, 24 boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4292; Email: patrick.revy@inserm.fr.

Authorship note: IA, JYB, CLP, and PR contributed equally to this work.

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1Institut Imagine, Université Paris Cité, INSERM UMR1163, Laboratory of Human Lymphohematopoiesis, Paris, France.

2INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Équipe Labellisée LIGUE 2023, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4University of Geneva, Faculty of Medicine, Department of Pathology and Immunology, Geneva, Switzerland; Geneva Centre for Inflammation Research, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

5Service de Biothérapie et d’Aphérèse, Hôpital Necker, Groupe Hospitalier Universitaire Ouest, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

6INSERM UMRS-MD 1197, Université de Paris-Saclay, Hôpital Paul Brousse, Villejuif, France.

7Service Anatomo-Pathologie, Hôpital d’Instruction des Armées Begin, Saint-Mandé, France.

8Reference Center for Skeletal Dysplasia, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

9Medical Genetics Department, CHU de Montpellier, Montpellier, France.

10Department of Pediatric Oncology and Haematology, Montpellier Hospital, Montpellier, France.

11Service d’Hématologie Biologique, CHU de Montpellier, Montpellier, France.

12Sorbonne Université, Muséum National d’Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, Paris 75005, France.

13Centre d’Investigation Clinique Biothérapie, Groupe Hospitalier Universitaire Ouest, AP-HP, Paris, France.

Address correspondence to: Chantal Lagresle-Peyrou, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4338; Email: chantal.lagresle@inserm.fr. Or to Patrick Revy, Imagine Institute, 24 boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4292; Email: patrick.revy@inserm.fr.

Authorship note: IA, JYB, CLP, and PR contributed equally to this work.

Find articles by Kermasson, L. in: JCI | PubMed | Google Scholar

1Institut Imagine, Université Paris Cité, INSERM UMR1163, Laboratory of Human Lymphohematopoiesis, Paris, France.

2INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Équipe Labellisée LIGUE 2023, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4University of Geneva, Faculty of Medicine, Department of Pathology and Immunology, Geneva, Switzerland; Geneva Centre for Inflammation Research, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

5Service de Biothérapie et d’Aphérèse, Hôpital Necker, Groupe Hospitalier Universitaire Ouest, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

6INSERM UMRS-MD 1197, Université de Paris-Saclay, Hôpital Paul Brousse, Villejuif, France.

7Service Anatomo-Pathologie, Hôpital d’Instruction des Armées Begin, Saint-Mandé, France.

8Reference Center for Skeletal Dysplasia, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

9Medical Genetics Department, CHU de Montpellier, Montpellier, France.

10Department of Pediatric Oncology and Haematology, Montpellier Hospital, Montpellier, France.

11Service d’Hématologie Biologique, CHU de Montpellier, Montpellier, France.

12Sorbonne Université, Muséum National d’Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, Paris 75005, France.

13Centre d’Investigation Clinique Biothérapie, Groupe Hospitalier Universitaire Ouest, AP-HP, Paris, France.

Address correspondence to: Chantal Lagresle-Peyrou, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4338; Email: chantal.lagresle@inserm.fr. Or to Patrick Revy, Imagine Institute, 24 boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4292; Email: patrick.revy@inserm.fr.

Authorship note: IA, JYB, CLP, and PR contributed equally to this work.

Find articles by Susini, S. in: JCI | PubMed | Google Scholar |

1Institut Imagine, Université Paris Cité, INSERM UMR1163, Laboratory of Human Lymphohematopoiesis, Paris, France.

2INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Équipe Labellisée LIGUE 2023, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4University of Geneva, Faculty of Medicine, Department of Pathology and Immunology, Geneva, Switzerland; Geneva Centre for Inflammation Research, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

5Service de Biothérapie et d’Aphérèse, Hôpital Necker, Groupe Hospitalier Universitaire Ouest, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

6INSERM UMRS-MD 1197, Université de Paris-Saclay, Hôpital Paul Brousse, Villejuif, France.

7Service Anatomo-Pathologie, Hôpital d’Instruction des Armées Begin, Saint-Mandé, France.

8Reference Center for Skeletal Dysplasia, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

9Medical Genetics Department, CHU de Montpellier, Montpellier, France.

10Department of Pediatric Oncology and Haematology, Montpellier Hospital, Montpellier, France.

11Service d’Hématologie Biologique, CHU de Montpellier, Montpellier, France.

12Sorbonne Université, Muséum National d’Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, Paris 75005, France.

13Centre d’Investigation Clinique Biothérapie, Groupe Hospitalier Universitaire Ouest, AP-HP, Paris, France.

Address correspondence to: Chantal Lagresle-Peyrou, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4338; Email: chantal.lagresle@inserm.fr. Or to Patrick Revy, Imagine Institute, 24 boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4292; Email: patrick.revy@inserm.fr.

Authorship note: IA, JYB, CLP, and PR contributed equally to this work.

Find articles by Fert, I. in: JCI | PubMed | Google Scholar

1Institut Imagine, Université Paris Cité, INSERM UMR1163, Laboratory of Human Lymphohematopoiesis, Paris, France.

2INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Équipe Labellisée LIGUE 2023, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4University of Geneva, Faculty of Medicine, Department of Pathology and Immunology, Geneva, Switzerland; Geneva Centre for Inflammation Research, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

5Service de Biothérapie et d’Aphérèse, Hôpital Necker, Groupe Hospitalier Universitaire Ouest, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

6INSERM UMRS-MD 1197, Université de Paris-Saclay, Hôpital Paul Brousse, Villejuif, France.

7Service Anatomo-Pathologie, Hôpital d’Instruction des Armées Begin, Saint-Mandé, France.

8Reference Center for Skeletal Dysplasia, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

9Medical Genetics Department, CHU de Montpellier, Montpellier, France.

10Department of Pediatric Oncology and Haematology, Montpellier Hospital, Montpellier, France.

11Service d’Hématologie Biologique, CHU de Montpellier, Montpellier, France.

12Sorbonne Université, Muséum National d’Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, Paris 75005, France.

13Centre d’Investigation Clinique Biothérapie, Groupe Hospitalier Universitaire Ouest, AP-HP, Paris, France.

Address correspondence to: Chantal Lagresle-Peyrou, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4338; Email: chantal.lagresle@inserm.fr. Or to Patrick Revy, Imagine Institute, 24 boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4292; Email: patrick.revy@inserm.fr.

Authorship note: IA, JYB, CLP, and PR contributed equally to this work.

Find articles by Mahony, C. in: JCI | PubMed | Google Scholar

1Institut Imagine, Université Paris Cité, INSERM UMR1163, Laboratory of Human Lymphohematopoiesis, Paris, France.

2INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Équipe Labellisée LIGUE 2023, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4University of Geneva, Faculty of Medicine, Department of Pathology and Immunology, Geneva, Switzerland; Geneva Centre for Inflammation Research, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

5Service de Biothérapie et d’Aphérèse, Hôpital Necker, Groupe Hospitalier Universitaire Ouest, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

6INSERM UMRS-MD 1197, Université de Paris-Saclay, Hôpital Paul Brousse, Villejuif, France.

7Service Anatomo-Pathologie, Hôpital d’Instruction des Armées Begin, Saint-Mandé, France.

8Reference Center for Skeletal Dysplasia, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

9Medical Genetics Department, CHU de Montpellier, Montpellier, France.

10Department of Pediatric Oncology and Haematology, Montpellier Hospital, Montpellier, France.

11Service d’Hématologie Biologique, CHU de Montpellier, Montpellier, France.

12Sorbonne Université, Muséum National d’Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, Paris 75005, France.

13Centre d’Investigation Clinique Biothérapie, Groupe Hospitalier Universitaire Ouest, AP-HP, Paris, France.

Address correspondence to: Chantal Lagresle-Peyrou, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4338; Email: chantal.lagresle@inserm.fr. Or to Patrick Revy, Imagine Institute, 24 boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4292; Email: patrick.revy@inserm.fr.

Authorship note: IA, JYB, CLP, and PR contributed equally to this work.

Find articles by Sadek, H. in: JCI | PubMed | Google Scholar

1Institut Imagine, Université Paris Cité, INSERM UMR1163, Laboratory of Human Lymphohematopoiesis, Paris, France.

2INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Équipe Labellisée LIGUE 2023, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4University of Geneva, Faculty of Medicine, Department of Pathology and Immunology, Geneva, Switzerland; Geneva Centre for Inflammation Research, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

5Service de Biothérapie et d’Aphérèse, Hôpital Necker, Groupe Hospitalier Universitaire Ouest, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

6INSERM UMRS-MD 1197, Université de Paris-Saclay, Hôpital Paul Brousse, Villejuif, France.

7Service Anatomo-Pathologie, Hôpital d’Instruction des Armées Begin, Saint-Mandé, France.

8Reference Center for Skeletal Dysplasia, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

9Medical Genetics Department, CHU de Montpellier, Montpellier, France.

10Department of Pediatric Oncology and Haematology, Montpellier Hospital, Montpellier, France.

11Service d’Hématologie Biologique, CHU de Montpellier, Montpellier, France.

12Sorbonne Université, Muséum National d’Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, Paris 75005, France.

13Centre d’Investigation Clinique Biothérapie, Groupe Hospitalier Universitaire Ouest, AP-HP, Paris, France.

Address correspondence to: Chantal Lagresle-Peyrou, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4338; Email: chantal.lagresle@inserm.fr. Or to Patrick Revy, Imagine Institute, 24 boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4292; Email: patrick.revy@inserm.fr.

Authorship note: IA, JYB, CLP, and PR contributed equally to this work.

Find articles by Luce, S. in: JCI | PubMed | Google Scholar

1Institut Imagine, Université Paris Cité, INSERM UMR1163, Laboratory of Human Lymphohematopoiesis, Paris, France.

2INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Équipe Labellisée LIGUE 2023, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4University of Geneva, Faculty of Medicine, Department of Pathology and Immunology, Geneva, Switzerland; Geneva Centre for Inflammation Research, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

5Service de Biothérapie et d’Aphérèse, Hôpital Necker, Groupe Hospitalier Universitaire Ouest, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

6INSERM UMRS-MD 1197, Université de Paris-Saclay, Hôpital Paul Brousse, Villejuif, France.

7Service Anatomo-Pathologie, Hôpital d’Instruction des Armées Begin, Saint-Mandé, France.

8Reference Center for Skeletal Dysplasia, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

9Medical Genetics Department, CHU de Montpellier, Montpellier, France.

10Department of Pediatric Oncology and Haematology, Montpellier Hospital, Montpellier, France.

11Service d’Hématologie Biologique, CHU de Montpellier, Montpellier, France.

12Sorbonne Université, Muséum National d’Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, Paris 75005, France.

13Centre d’Investigation Clinique Biothérapie, Groupe Hospitalier Universitaire Ouest, AP-HP, Paris, France.

Address correspondence to: Chantal Lagresle-Peyrou, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4338; Email: chantal.lagresle@inserm.fr. Or to Patrick Revy, Imagine Institute, 24 boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4292; Email: patrick.revy@inserm.fr.

Authorship note: IA, JYB, CLP, and PR contributed equally to this work.

Find articles by Chouteau, M. in: JCI | PubMed | Google Scholar

1Institut Imagine, Université Paris Cité, INSERM UMR1163, Laboratory of Human Lymphohematopoiesis, Paris, France.

2INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Équipe Labellisée LIGUE 2023, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4University of Geneva, Faculty of Medicine, Department of Pathology and Immunology, Geneva, Switzerland; Geneva Centre for Inflammation Research, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

5Service de Biothérapie et d’Aphérèse, Hôpital Necker, Groupe Hospitalier Universitaire Ouest, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

6INSERM UMRS-MD 1197, Université de Paris-Saclay, Hôpital Paul Brousse, Villejuif, France.

7Service Anatomo-Pathologie, Hôpital d’Instruction des Armées Begin, Saint-Mandé, France.

8Reference Center for Skeletal Dysplasia, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

9Medical Genetics Department, CHU de Montpellier, Montpellier, France.

10Department of Pediatric Oncology and Haematology, Montpellier Hospital, Montpellier, France.

11Service d’Hématologie Biologique, CHU de Montpellier, Montpellier, France.

12Sorbonne Université, Muséum National d’Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, Paris 75005, France.

13Centre d’Investigation Clinique Biothérapie, Groupe Hospitalier Universitaire Ouest, AP-HP, Paris, France.

Address correspondence to: Chantal Lagresle-Peyrou, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4338; Email: chantal.lagresle@inserm.fr. Or to Patrick Revy, Imagine Institute, 24 boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4292; Email: patrick.revy@inserm.fr.

Authorship note: IA, JYB, CLP, and PR contributed equally to this work.

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1Institut Imagine, Université Paris Cité, INSERM UMR1163, Laboratory of Human Lymphohematopoiesis, Paris, France.

2INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Équipe Labellisée LIGUE 2023, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4University of Geneva, Faculty of Medicine, Department of Pathology and Immunology, Geneva, Switzerland; Geneva Centre for Inflammation Research, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

5Service de Biothérapie et d’Aphérèse, Hôpital Necker, Groupe Hospitalier Universitaire Ouest, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

6INSERM UMRS-MD 1197, Université de Paris-Saclay, Hôpital Paul Brousse, Villejuif, France.

7Service Anatomo-Pathologie, Hôpital d’Instruction des Armées Begin, Saint-Mandé, France.

8Reference Center for Skeletal Dysplasia, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

9Medical Genetics Department, CHU de Montpellier, Montpellier, France.

10Department of Pediatric Oncology and Haematology, Montpellier Hospital, Montpellier, France.

11Service d’Hématologie Biologique, CHU de Montpellier, Montpellier, France.

12Sorbonne Université, Muséum National d’Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, Paris 75005, France.

13Centre d’Investigation Clinique Biothérapie, Groupe Hospitalier Universitaire Ouest, AP-HP, Paris, France.

Address correspondence to: Chantal Lagresle-Peyrou, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4338; Email: chantal.lagresle@inserm.fr. Or to Patrick Revy, Imagine Institute, 24 boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4292; Email: patrick.revy@inserm.fr.

Authorship note: IA, JYB, CLP, and PR contributed equally to this work.

Find articles by Six, E. in: JCI | PubMed | Google Scholar

1Institut Imagine, Université Paris Cité, INSERM UMR1163, Laboratory of Human Lymphohematopoiesis, Paris, France.

2INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Équipe Labellisée LIGUE 2023, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4University of Geneva, Faculty of Medicine, Department of Pathology and Immunology, Geneva, Switzerland; Geneva Centre for Inflammation Research, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

5Service de Biothérapie et d’Aphérèse, Hôpital Necker, Groupe Hospitalier Universitaire Ouest, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

6INSERM UMRS-MD 1197, Université de Paris-Saclay, Hôpital Paul Brousse, Villejuif, France.

7Service Anatomo-Pathologie, Hôpital d’Instruction des Armées Begin, Saint-Mandé, France.

8Reference Center for Skeletal Dysplasia, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

9Medical Genetics Department, CHU de Montpellier, Montpellier, France.

10Department of Pediatric Oncology and Haematology, Montpellier Hospital, Montpellier, France.

11Service d’Hématologie Biologique, CHU de Montpellier, Montpellier, France.

12Sorbonne Université, Muséum National d’Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, Paris 75005, France.

13Centre d’Investigation Clinique Biothérapie, Groupe Hospitalier Universitaire Ouest, AP-HP, Paris, France.

Address correspondence to: Chantal Lagresle-Peyrou, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4338; Email: chantal.lagresle@inserm.fr. Or to Patrick Revy, Imagine Institute, 24 boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4292; Email: patrick.revy@inserm.fr.

Authorship note: IA, JYB, CLP, and PR contributed equally to this work.

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1Institut Imagine, Université Paris Cité, INSERM UMR1163, Laboratory of Human Lymphohematopoiesis, Paris, France.

2INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Équipe Labellisée LIGUE 2023, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4University of Geneva, Faculty of Medicine, Department of Pathology and Immunology, Geneva, Switzerland; Geneva Centre for Inflammation Research, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

5Service de Biothérapie et d’Aphérèse, Hôpital Necker, Groupe Hospitalier Universitaire Ouest, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

6INSERM UMRS-MD 1197, Université de Paris-Saclay, Hôpital Paul Brousse, Villejuif, France.

7Service Anatomo-Pathologie, Hôpital d’Instruction des Armées Begin, Saint-Mandé, France.

8Reference Center for Skeletal Dysplasia, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

9Medical Genetics Department, CHU de Montpellier, Montpellier, France.

10Department of Pediatric Oncology and Haematology, Montpellier Hospital, Montpellier, France.

11Service d’Hématologie Biologique, CHU de Montpellier, Montpellier, France.

12Sorbonne Université, Muséum National d’Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, Paris 75005, France.

13Centre d’Investigation Clinique Biothérapie, Groupe Hospitalier Universitaire Ouest, AP-HP, Paris, France.

Address correspondence to: Chantal Lagresle-Peyrou, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4338; Email: chantal.lagresle@inserm.fr. Or to Patrick Revy, Imagine Institute, 24 boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4292; Email: patrick.revy@inserm.fr.

Authorship note: IA, JYB, CLP, and PR contributed equally to this work.

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1Institut Imagine, Université Paris Cité, INSERM UMR1163, Laboratory of Human Lymphohematopoiesis, Paris, France.

2INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Équipe Labellisée LIGUE 2023, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4University of Geneva, Faculty of Medicine, Department of Pathology and Immunology, Geneva, Switzerland; Geneva Centre for Inflammation Research, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

5Service de Biothérapie et d’Aphérèse, Hôpital Necker, Groupe Hospitalier Universitaire Ouest, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

6INSERM UMRS-MD 1197, Université de Paris-Saclay, Hôpital Paul Brousse, Villejuif, France.

7Service Anatomo-Pathologie, Hôpital d’Instruction des Armées Begin, Saint-Mandé, France.

8Reference Center for Skeletal Dysplasia, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

9Medical Genetics Department, CHU de Montpellier, Montpellier, France.

10Department of Pediatric Oncology and Haematology, Montpellier Hospital, Montpellier, France.

11Service d’Hématologie Biologique, CHU de Montpellier, Montpellier, France.

12Sorbonne Université, Muséum National d’Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, Paris 75005, France.

13Centre d’Investigation Clinique Biothérapie, Groupe Hospitalier Universitaire Ouest, AP-HP, Paris, France.

Address correspondence to: Chantal Lagresle-Peyrou, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4338; Email: chantal.lagresle@inserm.fr. Or to Patrick Revy, Imagine Institute, 24 boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4292; Email: patrick.revy@inserm.fr.

Authorship note: IA, JYB, CLP, and PR contributed equally to this work.

Find articles by Souraud, J. in: JCI | PubMed | Google Scholar

1Institut Imagine, Université Paris Cité, INSERM UMR1163, Laboratory of Human Lymphohematopoiesis, Paris, France.

2INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Équipe Labellisée LIGUE 2023, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4University of Geneva, Faculty of Medicine, Department of Pathology and Immunology, Geneva, Switzerland; Geneva Centre for Inflammation Research, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

5Service de Biothérapie et d’Aphérèse, Hôpital Necker, Groupe Hospitalier Universitaire Ouest, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

6INSERM UMRS-MD 1197, Université de Paris-Saclay, Hôpital Paul Brousse, Villejuif, France.

7Service Anatomo-Pathologie, Hôpital d’Instruction des Armées Begin, Saint-Mandé, France.

8Reference Center for Skeletal Dysplasia, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

9Medical Genetics Department, CHU de Montpellier, Montpellier, France.

10Department of Pediatric Oncology and Haematology, Montpellier Hospital, Montpellier, France.

11Service d’Hématologie Biologique, CHU de Montpellier, Montpellier, France.

12Sorbonne Université, Muséum National d’Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, Paris 75005, France.

13Centre d’Investigation Clinique Biothérapie, Groupe Hospitalier Universitaire Ouest, AP-HP, Paris, France.

Address correspondence to: Chantal Lagresle-Peyrou, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4338; Email: chantal.lagresle@inserm.fr. Or to Patrick Revy, Imagine Institute, 24 boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4292; Email: patrick.revy@inserm.fr.

Authorship note: IA, JYB, CLP, and PR contributed equally to this work.

Find articles by Cormier-Daire, V. in: JCI | PubMed | Google Scholar

1Institut Imagine, Université Paris Cité, INSERM UMR1163, Laboratory of Human Lymphohematopoiesis, Paris, France.

2INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Équipe Labellisée LIGUE 2023, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4University of Geneva, Faculty of Medicine, Department of Pathology and Immunology, Geneva, Switzerland; Geneva Centre for Inflammation Research, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

5Service de Biothérapie et d’Aphérèse, Hôpital Necker, Groupe Hospitalier Universitaire Ouest, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

6INSERM UMRS-MD 1197, Université de Paris-Saclay, Hôpital Paul Brousse, Villejuif, France.

7Service Anatomo-Pathologie, Hôpital d’Instruction des Armées Begin, Saint-Mandé, France.

8Reference Center for Skeletal Dysplasia, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

9Medical Genetics Department, CHU de Montpellier, Montpellier, France.

10Department of Pediatric Oncology and Haematology, Montpellier Hospital, Montpellier, France.

11Service d’Hématologie Biologique, CHU de Montpellier, Montpellier, France.

12Sorbonne Université, Muséum National d’Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, Paris 75005, France.

13Centre d’Investigation Clinique Biothérapie, Groupe Hospitalier Universitaire Ouest, AP-HP, Paris, France.

Address correspondence to: Chantal Lagresle-Peyrou, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4338; Email: chantal.lagresle@inserm.fr. Or to Patrick Revy, Imagine Institute, 24 boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4292; Email: patrick.revy@inserm.fr.

Authorship note: IA, JYB, CLP, and PR contributed equally to this work.

Find articles by Willems, M. in: JCI | PubMed | Google Scholar |

1Institut Imagine, Université Paris Cité, INSERM UMR1163, Laboratory of Human Lymphohematopoiesis, Paris, France.

2INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Équipe Labellisée LIGUE 2023, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4University of Geneva, Faculty of Medicine, Department of Pathology and Immunology, Geneva, Switzerland; Geneva Centre for Inflammation Research, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

5Service de Biothérapie et d’Aphérèse, Hôpital Necker, Groupe Hospitalier Universitaire Ouest, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

6INSERM UMRS-MD 1197, Université de Paris-Saclay, Hôpital Paul Brousse, Villejuif, France.

7Service Anatomo-Pathologie, Hôpital d’Instruction des Armées Begin, Saint-Mandé, France.

8Reference Center for Skeletal Dysplasia, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

9Medical Genetics Department, CHU de Montpellier, Montpellier, France.

10Department of Pediatric Oncology and Haematology, Montpellier Hospital, Montpellier, France.

11Service d’Hématologie Biologique, CHU de Montpellier, Montpellier, France.

12Sorbonne Université, Muséum National d’Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, Paris 75005, France.

13Centre d’Investigation Clinique Biothérapie, Groupe Hospitalier Universitaire Ouest, AP-HP, Paris, France.

Address correspondence to: Chantal Lagresle-Peyrou, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4338; Email: chantal.lagresle@inserm.fr. Or to Patrick Revy, Imagine Institute, 24 boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4292; Email: patrick.revy@inserm.fr.

Authorship note: IA, JYB, CLP, and PR contributed equally to this work.

Find articles by Sirvent, A. in: JCI | PubMed | Google Scholar

1Institut Imagine, Université Paris Cité, INSERM UMR1163, Laboratory of Human Lymphohematopoiesis, Paris, France.

2INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Équipe Labellisée LIGUE 2023, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4University of Geneva, Faculty of Medicine, Department of Pathology and Immunology, Geneva, Switzerland; Geneva Centre for Inflammation Research, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

5Service de Biothérapie et d’Aphérèse, Hôpital Necker, Groupe Hospitalier Universitaire Ouest, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

6INSERM UMRS-MD 1197, Université de Paris-Saclay, Hôpital Paul Brousse, Villejuif, France.

7Service Anatomo-Pathologie, Hôpital d’Instruction des Armées Begin, Saint-Mandé, France.

8Reference Center for Skeletal Dysplasia, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

9Medical Genetics Department, CHU de Montpellier, Montpellier, France.

10Department of Pediatric Oncology and Haematology, Montpellier Hospital, Montpellier, France.

11Service d’Hématologie Biologique, CHU de Montpellier, Montpellier, France.

12Sorbonne Université, Muséum National d’Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, Paris 75005, France.

13Centre d’Investigation Clinique Biothérapie, Groupe Hospitalier Universitaire Ouest, AP-HP, Paris, France.

Address correspondence to: Chantal Lagresle-Peyrou, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4338; Email: chantal.lagresle@inserm.fr. Or to Patrick Revy, Imagine Institute, 24 boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4292; Email: patrick.revy@inserm.fr.

Authorship note: IA, JYB, CLP, and PR contributed equally to this work.

Find articles by Russello, J. in: JCI | PubMed | Google Scholar

1Institut Imagine, Université Paris Cité, INSERM UMR1163, Laboratory of Human Lymphohematopoiesis, Paris, France.

2INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Équipe Labellisée LIGUE 2023, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4University of Geneva, Faculty of Medicine, Department of Pathology and Immunology, Geneva, Switzerland; Geneva Centre for Inflammation Research, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

5Service de Biothérapie et d’Aphérèse, Hôpital Necker, Groupe Hospitalier Universitaire Ouest, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

6INSERM UMRS-MD 1197, Université de Paris-Saclay, Hôpital Paul Brousse, Villejuif, France.

7Service Anatomo-Pathologie, Hôpital d’Instruction des Armées Begin, Saint-Mandé, France.

8Reference Center for Skeletal Dysplasia, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

9Medical Genetics Department, CHU de Montpellier, Montpellier, France.

10Department of Pediatric Oncology and Haematology, Montpellier Hospital, Montpellier, France.

11Service d’Hématologie Biologique, CHU de Montpellier, Montpellier, France.

12Sorbonne Université, Muséum National d’Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, Paris 75005, France.

13Centre d’Investigation Clinique Biothérapie, Groupe Hospitalier Universitaire Ouest, AP-HP, Paris, France.

Address correspondence to: Chantal Lagresle-Peyrou, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4338; Email: chantal.lagresle@inserm.fr. Or to Patrick Revy, Imagine Institute, 24 boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4292; Email: patrick.revy@inserm.fr.

Authorship note: IA, JYB, CLP, and PR contributed equally to this work.

Find articles by Callebaut, I. in: JCI | PubMed | Google Scholar

1Institut Imagine, Université Paris Cité, INSERM UMR1163, Laboratory of Human Lymphohematopoiesis, Paris, France.

2INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Équipe Labellisée LIGUE 2023, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4University of Geneva, Faculty of Medicine, Department of Pathology and Immunology, Geneva, Switzerland; Geneva Centre for Inflammation Research, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

5Service de Biothérapie et d’Aphérèse, Hôpital Necker, Groupe Hospitalier Universitaire Ouest, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

6INSERM UMRS-MD 1197, Université de Paris-Saclay, Hôpital Paul Brousse, Villejuif, France.

7Service Anatomo-Pathologie, Hôpital d’Instruction des Armées Begin, Saint-Mandé, France.

8Reference Center for Skeletal Dysplasia, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

9Medical Genetics Department, CHU de Montpellier, Montpellier, France.

10Department of Pediatric Oncology and Haematology, Montpellier Hospital, Montpellier, France.

11Service d’Hématologie Biologique, CHU de Montpellier, Montpellier, France.

12Sorbonne Université, Muséum National d’Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, Paris 75005, France.

13Centre d’Investigation Clinique Biothérapie, Groupe Hospitalier Universitaire Ouest, AP-HP, Paris, France.

Address correspondence to: Chantal Lagresle-Peyrou, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4338; Email: chantal.lagresle@inserm.fr. Or to Patrick Revy, Imagine Institute, 24 boulevard du Montparnasse, 75015, Paris, France. Phone: 33.1.4275.4292; Email: patrick.revy@inserm.fr.

Authorship note: IA, JYB, CLP, and PR contributed equally to this work.

Find articles by André, I. in: JCI | PubMed | Google Scholar

1Institut Imagine, Université Paris Cité, INSERM UMR1163, Laboratory of Human Lymphohematopoiesis, Paris, France.

2INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Équipe Labellisée LIGUE 2023, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4University of Geneva, Faculty of Medicine, Department of Pathology and Immunology, Geneva, Switzerland; Geneva Centre for Inflammation Rese