Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients.
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 mut... Mehr ...
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Dokumenttyp: | article dans une revue scientifique |
Erscheinungsdatum: | 2019 |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26918339 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://hdl.handle.net/20.500.12210/4527 |