Publications by authors named "Lidia Branco"
Blueberry muffin syndrome (BMS) in neonates, characterized by widespread nodular lesions, presents diagnostic challenges due to its diverse etiologies. Hyperleukocytosis, with leukocyte counts exceeding 100,000/μL, is a rare phenomenon associated with severe complications in neonates. Congenital leukemia (CL), a rare diagnosis within the first month of life, is linked to high mortality.
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- The study investigates the genetic, immunological, and clinical characteristics of patients with GATA2 mutations who have mycobacterial diseases, with a focus on familial contexts.
- Researchers examined 15 patients and their relatives, identifying 12 mutations, some of which were newly discovered, revealing a pattern of incomplete clinical penetrance among family members.
- The findings suggest that GATA2 deficiency can lead to mycobacterial infections and other health issues, indicating the need for genetic testing of relatives and consideration of GATA2 deficiency in patients with related symptoms at any age.