Whole Exome Sequencing of Adult Patients With Evans Syndrome Reveals Pathogenic Variants Associated With Autoimmunity

Etienne Crickx^{1

2}, Jehane Fadlallah³, Morgane Cheminant⁴, Jérémie Rosain^{5

6

7}, Jérémie Dion⁸, Marion Malphettes³, Benoit Faucher⁹, Louis Terriou¹⁰, Odile Souchaud-Debouverie¹¹, Thibault Comont⁸, Felipe Suarez⁴, Julie Graveleau¹², Jérôme Hadjadj^{1

13}, Thomas Moulinet¹⁴, Anne-Marie Ronchetti¹⁵, Mikael Ebbo⁹, Marie-Claude Stolzenberg¹, Camille Brunaud¹, Duong Ho-Nhat¹, Cécile Masson¹⁶, Mélodie Perin¹⁶, Gaelle Richard-Colmant¹⁷, Lise Willems¹⁸, Gwénola Maigné¹⁹, Marielle Roux-Sauvat²⁰, Laurent Gilardin²¹, Marie Gousseff²², Adrien Bigot²³, Antoine Froissart²⁴, Guillaume Moulis^{25

26}, Mathieu Puyade¹¹, Antoine Dossier²⁷, David Boutboul¹⁸, Delphine Gobert¹³, Clément Gourguechon²⁸, Bertrand Godeau², Lionel Galicier⁹, Jean-Francois Viallard²⁹, Sylvain Audia³⁰, Claire Fieschi³, Olivier Hermine⁴, Marc Michel², Matthieu Mahévas², Frédéric Rieux-Laucat¹

Affiliations

¹ Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Imagine Institute, INSERM UMR U1163, Université Paris Cité, Paris, France.
² Internal Medicine Department, Henri Mondor Hospital, AP-HP, Créteil, France.
³ Clinical Immunopathology Department, Saint Louis Hospital, AP-HP, Paris, France.
⁴ Haematology Department, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Université de Paris Cité, Paris, France.
⁵ Study Center for Primary Immunodeficiencies, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
⁶ Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker-Enfants Malades Hospital, Paris, France.
⁷ Paris Cité University, Imagine Institute, Paris, France.
⁸ Internal Medicine and Clinical Immunopathology Department, IUCT-Oncopole, Toulouse University Hospital, Université Paul Sabatier, Toulouse, France.
⁹ Internal Medicine Department, Hôpital De La Timone, Aix-Marseille Université, Marseille, France.
¹⁰ Hematology Department, Claude Huriez University Hospital, Lille, France.
¹¹ Internal Medicine Department, Poitiers University Hospital, Poitiers Medicine University, Poitiers, France.
¹² Internal Medicine Department, Nantes University Hospital, Nantes, France.
¹³ Sorbonne Université, Internal Medicine Department, Saint Antoine Hospital, AP-HP, Paris, France.
¹⁴ Internal Medicine Department, Nancy University Hospital, Nancy, France.
¹⁵ Hematology Department, CH Sud Francilien Hospital, Corbeil Essonne, France.
¹⁶ Bioinformatic Plateform, Imagine Institute, INSERM UMR U1163, Université Paris Cité, Paris, France.
¹⁷ Internal Medicine Department, Croix-Rousse University Hospital, Lyon, France.
¹⁸ Hematology Department, Cochin Hospital, AP-HP, Paris, France.
¹⁹ Internal Medicine Department, Caen University Hospital, Caen, France.
²⁰ Internal Medicine Department, Bourgoin-Jallieu Hospital, Bourgoin-Jallieu, France.
²¹ Internal Medicine Department, Jean Verdier Hospital, AP-HP, Bondy, France.
²² Internal Medicine and Infectious Diseases Department, Vannes Hospital, Vannes, France.
²³ Internal Medicine Department, Tours University Hospital, Tours, France.
²⁴ Internal Medicine Department, Intercommunal de Créteil Hospital, Créteil, France.
²⁵ Internal Medicine Department, Purpan University Hospital, Toulouse, France.
²⁶ CIC 1436, Team PEPSS, Toulouse University Hhospital, Toulouse, France.
²⁷ Internal Medicine Department, Bichat Hospital, AP-HP, Paris, France.
²⁸ Hematology Department, Amiens University Hospital, Amiens, France.
²⁹ Internal Medicine Department, Haut-Leveque Hospital, Pessac, France.
³⁰ Internal Medicine Department, Dijon University Hospital, Dijon, France.

PMID: 40622000
DOI: 10.1002/ajh.27767

Whole Exome Sequencing of Adult Patients With Evans Syndrome Reveals Pathogenic Variants Associated With Autoimmunity

Etienne Crickx et al. Am J Hematol. 2025 Sep.

. 2025 Sep;100(9):1700-1704.

doi: 10.1002/ajh.27767. Epub 2025 Jul 7.

Authors

Affiliations

¹ Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Imagine Institute, INSERM UMR U1163, Université Paris Cité, Paris, France.
² Internal Medicine Department, Henri Mondor Hospital, AP-HP, Créteil, France.
³ Clinical Immunopathology Department, Saint Louis Hospital, AP-HP, Paris, France.
⁴ Haematology Department, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Université de Paris Cité, Paris, France.
⁵ Study Center for Primary Immunodeficiencies, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
⁶ Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker-Enfants Malades Hospital, Paris, France.
⁷ Paris Cité University, Imagine Institute, Paris, France.
⁸ Internal Medicine and Clinical Immunopathology Department, IUCT-Oncopole, Toulouse University Hospital, Université Paul Sabatier, Toulouse, France.
⁹ Internal Medicine Department, Hôpital De La Timone, Aix-Marseille Université, Marseille, France.
¹⁰ Hematology Department, Claude Huriez University Hospital, Lille, France.
¹¹ Internal Medicine Department, Poitiers University Hospital, Poitiers Medicine University, Poitiers, France.
¹² Internal Medicine Department, Nantes University Hospital, Nantes, France.
¹³ Sorbonne Université, Internal Medicine Department, Saint Antoine Hospital, AP-HP, Paris, France.
¹⁴ Internal Medicine Department, Nancy University Hospital, Nancy, France.
¹⁵ Hematology Department, CH Sud Francilien Hospital, Corbeil Essonne, France.
¹⁶ Bioinformatic Plateform, Imagine Institute, INSERM UMR U1163, Université Paris Cité, Paris, France.
¹⁷ Internal Medicine Department, Croix-Rousse University Hospital, Lyon, France.
¹⁸ Hematology Department, Cochin Hospital, AP-HP, Paris, France.
¹⁹ Internal Medicine Department, Caen University Hospital, Caen, France.
²⁰ Internal Medicine Department, Bourgoin-Jallieu Hospital, Bourgoin-Jallieu, France.
²¹ Internal Medicine Department, Jean Verdier Hospital, AP-HP, Bondy, France.
²² Internal Medicine and Infectious Diseases Department, Vannes Hospital, Vannes, France.
²³ Internal Medicine Department, Tours University Hospital, Tours, France.
²⁴ Internal Medicine Department, Intercommunal de Créteil Hospital, Créteil, France.
²⁵ Internal Medicine Department, Purpan University Hospital, Toulouse, France.
²⁶ CIC 1436, Team PEPSS, Toulouse University Hhospital, Toulouse, France.
²⁷ Internal Medicine Department, Bichat Hospital, AP-HP, Paris, France.
²⁸ Hematology Department, Amiens University Hospital, Amiens, France.
²⁹ Internal Medicine Department, Haut-Leveque Hospital, Pessac, France.
³⁰ Internal Medicine Department, Dijon University Hospital, Dijon, France.

PMID: 40622000
DOI: 10.1002/ajh.27767

No abstract available

Keywords: Evans syndrome; autoimmune neutropenia; immune thrombocytopenia; primary immune deficiencies and/or dysregulations; warm autoimmune hemolytic anemia; whole‐exome sequencing.

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Whole Exome Sequencing of Adult Patients With Evans Syndrome Reveals Pathogenic Variants Associated With Autoimmunity

Affiliations

Whole Exome Sequencing of Adult Patients With Evans Syndrome Reveals Pathogenic Variants Associated With Autoimmunity

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Grants and funding

LinkOut - more resources

Full Text Sources