Publications by authors named "K Lehmberg"
Article Synopsis
- Patients with JAGN1 mutations experience severe congenital neutropenia, leading to high rates of bacterial infections and poor response to G-CSF therapy.
- Two unrelated patients, one pregnant and one an infant, received GM-CSF after G-CSF failure, but neither showed an increase in neutrophil counts and treatment was eventually stopped due to further declines and infections.
- Despite the promising results in a mouse model, GM-CSF therapy did not benefit the patients, highlighting the need for early evaluation for hematopoietic stem cell transplantation in these cases.
Hemophagocytic lymphohistiocytosis (HLH) has been described for decades in association with malignancies (M-HLH). While its mechanism is unknown, M-HLH has a poor prognosis, ranging from 10% to 30% overall survival. Mature T-cell lymphomas, diffuse large B-cell lymphoma, and Hodgkin lymphoma, with or without viral co-triggers such as Epstein-Barr virus, are among the most frequent underlying entities.
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- The study analyzed the current diagnostic criteria for familial hemophagocytic lymphohistiocytosis (FHL) and aimed to improve them through a case-control approach involving 366 children with genetic FHL or Griscelli syndrome.
- It compared the existing HLH-2004 criteria's effectiveness with a new optimal model based on 17 variables, finding similar diagnostic thresholds with high accuracy rates (99.1% overall).
- The researchers concluded that while the HLH-2004 criteria are valid, additional cellular and genetic assays are beneficial for confirming diagnoses, particularly in differentiating FHL from severe infections or systemic-onset juvenile idiopathic arthritis.