Publications by authors named "Ayoub Aglaguel"
Purpose: Poikiloderma with Neutropenia (PN) is inherited genodermatosis which results from a biallelic mutation in the USB1 gene (U Six Biogenesis 1). PN, first described in Navajo Native Americans, is characterized by early onset poikiloderma, pachyonychia, palmo-plantar hyperkeratosis, and permanent neutropenia. This condition results in frequent respiratory tract infections during infancy and childhood.
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- Chronic granulomatous disease (CGD) is a condition where patients can't produce reactive oxygen species, leading to recurrent bacterial and fungal infections starting in early childhood.
- A study examined 12 Moroccan children with CGD, noting symptoms, impaired immune function, and identifying various genetic mutations linked to the disease across several families.
- The findings showed considerable genetic diversity among Moroccan CGD patients and highlighted a need for more extensive research to understand the disease's incidence and clinical characteristics better.