The first genetically confirmed Moroccan case series of Wiskott–Aldrich syndrome is reported, describing diagnostic pitfalls, clinical spectrum, and molecular findings and underscore the importance of early molecular diagnosis to guide appropriate management, genetic counseling, and timely referral for curative therapy...
Mounia El Alaoui El Hanafi, I. Benhsaien, Khadija Maani et al.· Frontiers in Pediatrics· 0 citations
This study demonstrates the development and early multi-site implementation of a Research Electronic Data Capture–based framework for inborn errors of immunity that provides a scalable foundation for rare disease research and may support improved clinical decision-making.
M. Ahmed, A. A. Bousfiha, Farida Almarzooqi· Frontiers in Immunology· 0 citations
Together, these discoveries redefine pediatric FVH as an immunopathological syndrome and provide a framework for targeted genetic and serologic diagnosis and for mechanism-based interventions aimed at improving survival.
M. Bousfiha, Dalal Ben Sabbahia, E. Jouanguy et al.· Frontiers in Immunology· 0 citations
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