Odeya David
YOU?
Author Swipe
Loss of function of ENT3 drives histiocytosis and inflammation through TLR-MAPK signaling Open
Histiocytoses are inflammatory myeloid neoplasms often driven by somatic activating mutations in mitogen-activated protein kinase (MAPK) cascade genes. H syndrome is an inflammatory genetic disorder caused by germ line loss-of-function mut…
Hypoparathyroidism-retardation-dysmorphism syndrome—Clinical insights from a large longitudinal cohort in a single medical center Open
Background Hypoparathyroidism, retardation, and dysmorphism (HRD) Syndrome is a rare disease composed of hypoparathyroidism, retardation of both growth and development, and distinctive dysmorphic features. Here, we describe the long-term m…
Hypoparathyroidism Retardation and Dysmorphism syndrome due to mutation in Tubulin-specific chaperone E gene as a cause of combined immune deficiency Open
Background: Hypoparathyroidism, retardation, and dysmorphism (HRD) syndrome is a disease composed of hypoparathyroidism, growth retardation, developmental delay and typical dysmorphic features, caused by Tubulin-specific chaperone E gene m…
The Effects of The COVID-19 Pandemic on Patients With Lysosomal Storage Disorders in Israel Open
Background- Severe acute respiratory syndrome coronavirus 2 (SARS CoV-2) is the causative agent of the current COVID-19 pandemic. Lysosomal storage disorders (LSD) comprise of 70 inherited inborn errors of metabolism. Affected individuals …
The etiologic, microbiologic, clinical and outcome characteristics of immunocompetent young children <2 years of age hospitalized with acute neutropenia Open
Acute neutropenia is common in immunocompetent children <2 years of age and is frequently associated with viral infections. We showed a substantial involvement of bacterial infections and particularly SBIs in the etiology of acute neutrope…