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

Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients. Haematologica. 2018 May 03;: Authors: Donadieu J, Lamant M, Fieschi C, Sicre de Fontbrune F, Caye A, Ouachee M, Beaupain B, Bustamante J, Poirel HA, Isidor B, Van Den Neste E, Neel A, Nimubona S, Toutain F, Barlogis V, Schleinitz N, Leblanc T, Rohrlich P, Suarez F, Ranta D, Abou Chahla W, Bruno B, Terriou L, Francois S, Lioure B, Ahle G, Bachelerie F, Preudhomme C, Delabesse E, Cavé H, Bellanné-Chantelot C, Pasquet M, French GATA2 working party Abstract Heterozygous germline GATA2 mutations strongly predispose to leukaemia, immunodeficiency, and/or lymphoedema. We now describe a series of 79 patients (53 families) diagnosed since 2011, compiling 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 haematological 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 leukaemia in patients with missense mutations (n=14/34) than in patients with nonsense or frameshift...
Source: Haematologica - Category: Hematology Authors: Tags: Haematologica Source Type: research