Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients.
Heterozygous germline 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... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2018 |
Verlag/Hrsg.: |
Ferrata Storti Foundation
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Schlagwörter: | Adolescent / Adult / Belgium / Child / Preschool / France / GATA2 Deficiency / Germ-Line Mutation / Hematologic Neoplasms / Hematopoietic Stem Cell Transplantation / Humans / Infant / Newborn / Infection / Middle Aged / Mortality / Prognosis / Surveys and Questionnaires / Young Adult |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26982098 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | http://hdl.handle.net/2078.1/220950 |