Publications by authors named "Susanne Aydin"
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.
Background: Biallelic variations in the dedicator of cytokinesis 8 (DOCK8) gene cause a combined immunodeficiency with eczema, recurrent bacterial and viral infections, and malignancy. Natural disease outcome is dismal, but allogeneic hematopoietic stem cell transplantation (HSCT) can cure the disease.
Objective: To determine outcome of HSCT for DOCK8 deficiency and define possible outcome variables.
Background: Although detection of children at high risk of developing type 1 diabetes and diagnosis of early stages is possible, up to now there exists no approved therapy to delay or prevent type 1 diabetes. Thus it is vital to develop evidence-based interventions. For this a sufficient number of trial participants is crucial but difficult to obtain especially in asymptomatic children.
View Article and Find Full Text PDFMutations in DOCK8 result in autosomal recessive Hyper-IgE syndrome with combined immunodeficiency (CID). However, the natural course of disease, long-term prognosis, and optimal therapeutic management have not yet been clearly defined. In an international retrospective survey of patients with DOCK8 mutations, focused on clinical presentation and therapeutic measures, a total of 136 patients with a median follow-up of 11.
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