Systematic search for the UBA1 mutation in men after a first episode of venous thromboembolism: A monocentric study

Lina Khider; Marie Templé; Cécile Bally; Agathe Spaeth; Luc Darnige; Olivier Sanchez; Benjamin Planquette; Hélène Mortelette; Emmanuel Messas; David M Smadja; Joseph Emmerich; Tristan Mirault; Olivier Kosmider; Nicolas Gendron

doi:10.1111/jth.15858

Systematic search for the UBA1 mutation in men after a first episode of venous thromboembolism: A monocentric study

J Thromb Haemost. 2022 Nov;20(11):2697-2699. doi: 10.1111/jth.15858. Epub 2022 Sep 13.

Authors

Lina Khider¹, Marie Templé², Cécile Bally³, Agathe Spaeth², Luc Darnige^{4

5

6}, Olivier Sanchez^{5

6

7

8}, Benjamin Planquette^{5

6

7

8}, Hélène Mortelette¹, Emmanuel Messas¹, David M Smadja^{4

5

6

8}, Joseph Emmerich^{9

10

11}, Tristan Mirault¹, Olivier Kosmider^{2

11}, Nicolas Gendron^{4

5

6}

Affiliations

¹ Vascular Medicine Department, Assistance Publique Hôpitaux de Paris-Centre Université Paris Cité (APHP-CUP), Paris, France.
² Hematology Department, Cochin Hospital, Assistance Publique Hôpitaux de Paris-Centre Université Paris Cité (APHP-CUP), Paris, France.
³ Hematology Department, Necker - Enfants Malades Hospital, Assistance Publique Hôpitaux de Paris-Centre Université Paris Cité (APHP-CUP), Paris, France.
⁴ Hematology Department, Hôpital européen Georges Pompidou, Assistance Publique Hôpitaux de Paris-Centre Université Paris Cité (APHP-CUP), Paris, France.
⁵ Innovative Therapies in Haemostasis, INSERM, Université Paris Cité, Paris, France.
⁶ Biosurgical Research Lab (Carpentier Foundation), Hôpital européen Georges Pompidou, Assistance Publique Hôpitaux de Paris-Centre Université Paris Cité (APHP-CUP), Paris, France.
⁷ Respiratory Medicine Department, Assistance Publique Hôpitaux de Paris-Centre Université Paris Cité (APHP-CUP), Paris, France.
⁸ F-CRIN INNOVTE, Saint-Étienne, France.
⁹ Vascular Medicine Department, Groupe Hospitalier Paris Saint-Joseph, Paris, France.
¹⁰ INSERM CRESS UMR 1153, Université Paris Cité, Paris, France.
¹¹ Institut Cochin, CNRS UMR8104, INSERM U1016, Université Paris Cité, Paris, France.

No abstract available

Keywords: VEXAS syndrome; hematologic malignancy; thrombophilia; thrombosis; venous thromboembolism.

Publication types

Letter
Systematic Review

MeSH terms

Factor V / genetics
Humans
Male
Mutation
Risk Factors
Thrombophilia* / genetics
Venous Thromboembolism* / diagnosis
Venous Thromboembolism* / genetics

Substances

Factor V