Dafna Brik Simon
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View article: A Nationwide Analysis of the Phenotype/Genotype Landscape of Hemophagocytic Lymphohistiocytosis: UNC13D Associates with Poor Prognosis
A Nationwide Analysis of the Phenotype/Genotype Landscape of Hemophagocytic Lymphohistiocytosis: UNC13D Associates with Poor Prognosis Open
Background/objectives: Geographic and ethnic differences influence the genetic landscape of hemophagocytic lymphohistiocytosis (HLH) and the frequency of familial HLH (FHL); this in turn can affect outcomes. Methods: We collected data on 9…
View article: Symptomatic corpus luteum hemorrhage in adolescent females with ITP
Symptomatic corpus luteum hemorrhage in adolescent females with ITP Open
View article: Genetic backgrounds and clinical characteristics of congenital neutropenias in <scp>Israel</scp>
Genetic backgrounds and clinical characteristics of congenital neutropenias in <span>Israel</span> Open
Background Congenital neutropenias are characterized by severe infections and a high risk of myeloid transformation; the causative genes vary across ethnicities. The Israeli population is characterized by an ethnically diverse population w…
View article: Biallelic hypomorphic variants in <i>CAD</i> cause uridine‐responsive macrocytic anaemia with elevated haemoglobin‐A2
Biallelic hypomorphic variants in <i>CAD</i> cause uridine‐responsive macrocytic anaemia with elevated haemoglobin‐A2 Open
Summary Biallelic pathogenic variants in CAD, that encode the multienzymatic protein required for de‐novo pyrimidine biosynthesis, cause early infantile epileptic encephalopathy‐50. This rare disease, characterized by developmental delay, …
View article: Early response markers predict survival after etoposide-based therapy of hemophagocytic lymphohistiocytosis
Early response markers predict survival after etoposide-based therapy of hemophagocytic lymphohistiocytosis Open
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome that is most commonly treated with etoposide and dexamethasone. This standard of care therapy has improved survival, but ∼15% of patients still die i…