Le syndrome de Wiskott-Aldrich. Une maladie à présentation variable : du diagnostic aux traitements

Wiskott-Aldrich syndrome (WAS) is a X-linked primary immunodeficiency disorder, characterized by the triad of eczema, thrombocytopenia and recurrent infections that can be severe. Despite the fact that the gene was identified in 1994, understanding of the molecular and cellular mechanisms of this disorder has increased. Herein, we describe diagnostic tools, clinical and laboratory monitoring and we provide an updated assessment of supportive care in therapeutic management. Recent advances and improvements in allogeneic hematopoietic stem-cell transplantation have significantly reduced morbidity and mortality. In addition, treatments may soon evolve with the first successful trials of gene therapy.