Publications by authors named "T UGLOVA"
Article Synopsis
- * In a study of 9 individuals from 3 families, two variants of AIOLOS (Q402* and E82K) were found to cause haploinsufficiency through different mechanisms, affecting the protein’s DNA binding and stability.
- * Patients with AIOLOS haploinsufficiency experienced symptoms like reduced immune response, recurrent infections, and autoimmunity, highlighting the broader implications of AIOLOS mutations on health.
Comparative clinical studies of children and adults with immune thrombocytopenia (ITP) are poorly covered in the literature. However, the accepted classification of ITP-childhood ITP and adult ITP-results in considerable differences in treatment protocols and practice guidelines. The analysis of the Pediatric and Adult Registry on Chronic ITP (PARC-ITP) of patients at first presentation demonstrated fewer differences in clinical and laboratory findings at initial diagnosis between children and adults than expected.
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