Titre :

Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients.

Auteur(s) :

Donadieu, Jean [Auteur]
Lamant, Marie [Auteur]
Fieschi, Claire [Auteur]
Université Paris Diderot - Paris 7 [UPD7]
Sicre De Fontbrune, Flore [Auteur]
Caye, Aurelie [Auteur]
Ouachee, Marie [Auteur]
Beaupain, Blandine [Auteur]
Bustamante, Jacinta [Auteur]
Université Paris Descartes - Paris 5 [UPD5]
Poirel Helene, A [Auteur]
Isidor, Bertrand [Auteur]
Van Den Neste, Eric [Auteur]
Neel, Antoine [Auteur]
Nimubona, Stanislas [Auteur]
Toutain, Fabienne [Auteur]
Barlogis, Vincent [Auteur]
Aix Marseille Université [AMU]
Schleinitz, Nicolas [Auteur]
Aix Marseille Université [AMU]
Leblanc, Thierry [Auteur]
Rohrlich, Pierre-Simon [Auteur]
Suarez, Felipe [Auteur]
Université Paris Descartes - Paris 5 [UPD5]
Ranta, Dana [Auteur]
Abou Chahla, Wadih [Auteur]
Bruno, Benedicte [Auteur]
Terriou, Louis [Auteur]
Lille Inflammation Research International Center - U 995 [LIRIC]
Francois, Sylvie [Auteur]
Lioure, Bruno [Auteur]
Ahle, Guido [Auteur]
Bachelerie, Francoise [Auteur]
Université Paris-Sud - Paris 11 [UP11]
Preudhomme, Claude [Auteur]

Delabesse, Eric [Auteur]
Cave, Helene [Auteur]
Bellanne-Chantelot, Christine [Auteur]
Pasquet, Marlene [Auteur]

Titre de la revue :

Haematologica

Nom court de la revue :

Haematologica

Numéro :

103

Pagination :

1278-1287

Date de publication :

2018-08

Discipline(s) HAL :

Sciences du Vivant [q-bio]

Résumé en anglais : [en]

Heterozygous germline GATA2 mutations strongly predispose to leukemia, immunodeficiency, and/or lymphoedema. We describe a series of 79 patients (53 families) diagnosed since 2011, made up of all patients in France and ...
Lire la suite >Heterozygous germline GATA2 mutations strongly predispose to leukemia, immunodeficiency, and/or lymphoedema. We describe a series of 79 patients (53 families) diagnosed since 2011, made up of all patients in France and Belgium, with a follow up of 2249 patients/years. Median age at first clinical symptoms was 18.6 years (range, 0-61 years). Severe infectious diseases (mycobacteria, fungus, and human papilloma virus) and hematologic malignancies were the most common first manifestations. The probability of remaining symptom-free was 8% at 40 years old. Among the 53 probands, 24 had missense mutations including 4 recurrent alleles, 21 had nonsense or frameshift mutations, 4 had a whole-gene deletion, 2 had splice defects, and 2 patients had complex mutations. There were significantly more cases of leukemia in patients with missense mutations (n=14 of 34) than in patients with nonsense or frameshift mutations (n=2 of 28). We also identify new features of the disease: acute lymphoblastic leukemia, juvenile myelomonocytic leukemia, fatal progressive multifocal leukoencephalopathy related to the JC virus, and immune/inflammatory diseases. A revised International Prognostic Scoring System (IPSS) score allowed a distinction to be made between a stable disease and hematologic transformation. Chemotherapy is of limited efficacy, and has a high toxicity with severe infectious complications. As the mortality rate is high in our cohort (up to 35% at the age of 40), hematopoietic stem cell transplantation (HSCT) remains the best choice of treatment to avoid severe infectious and/or hematologic complications. The timing of HSCT remains difficult to determine, but the earlier it is performed, the better the outcome.Lire moins >

Langue :

Anglais

Audience :

Internationale

Vulgarisation :

Non

Établissement(s) :

Inserm
Université de Lille
CHU Lille

Collections :

• Institut de Recherche Translationnelle sur l'Inflammation (INFINITE) - U1286

Équipe(s) de recherche :

Immunity, inflammation and fibrsis in auto and allo-reactivity

Date de dépôt :

2019-03-01T14:08:12Z
2019-07-16T12:35:17Z
2023-12-01T15:04:30Z