Inborn errors of immunity that present with concomitant immunodeficiency and auto-inflammation are therapeutically challenging; furthermore, complexity is added when they are caused by mutations in genes that encode for proteins expressed beyond immune cells. The ubiquitin-proteasome system is the main intracellular proteolytic machinery and participates in most cellular processes by degrading ubiquitinated proteins. Mutations in proteasome subunits resulting in proteasome deficiency cause a sev...
Last. Sean R. Stowell(Brigham and Women's Hospital)H-Index: 32
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Recombinant Factor VIII (FVIII) products represent a life-saving intervention for patients with hemophilia A. However, patients can develop antibodies against FVIII that prevent FVIII function and directly increase morbidity and mortality. The development of anti-FVIII antibodies varies depending on the type of recombinant product employed, with previous studies suggesting that 2nd generation baby hamster kidney (BHK)-derived FVIII products display greater immunogenicity than 3rd generation Chin...
Thromboembolic events including venous thromboembolism (VTE), arterial thromboembolism (ATE), and mortality from sub-clinical thrombotic events occur frequently in COVID-19 inpatients. Whether the risk extends post-discharge has been controversial. Our prospective registry included consecutive COVID-19 patients hospitalized within our multihospital system from March 1st - May 31st 2020. We captured demographics, comorbidities, laboratory parameters, medications, post-discharge thromboprophylaxis...
ABSTRACT IDH inhibitors are effective in AML, and trials evaluating frontline combinations with intensive chemotherapy (IC) are ongoing. Data on the prognostic significance of co-occurring genetic alterations and allogeneic hematopoietic stem cell transplantation (HSCT) are conflicting in each IDH-mutated subgroup treated by IC, while this information is important for trial design and results interpretation. We retrospectively analyzed 127 IDH1, 135 IDH2R140 and 57 IDH2R172 newly diagnosed AML p...
Approximately 80% of adult patients with immune thrombocytopenia (ITP) fail or become dependent on corticosteroids and require second-line therapy. Several new and effective therapies have been introduced during the last decade and our understanding of disease burden and its effect on quality of life has expanded. It is now recommended that splenectomy, the standard second-line therapy for decades, be delayed for at least 12-24 months allowing more patients to achieve remission on medical therap...