Wiskott-Aldrich syndrome (WAS) is a rare, recurrent X-linked pathology, characterized by the triad: thrombocytopenia, eczema and recurrent immunodeficiency. WAS usually manifests in infancy, in most cases the first clinical features are hemorrhagic manifestations.
Aim: To describe two boys and 1 girl with WAS genetically confirmed with absolutely different onset of symptoms.
We reviewed medical records and blood counts, phenotyped peripheral blood lymphocytes.
We describe 2 boys (P1 and P2) and 1 girl (P3) with early-onset of symptoms and mild cellular abnormalities. P1 from the age of one month has frequent severe respiratory infections (bronchiolitis, pneumonia, pneumonia with P. jirovecii) and from 4 months he also has eczema. P2 from the age of 1.5 months has high tendency to bleeding with haemorrhagic colitis, ecchymosis and petechiae, from the age of 3 months he is frequently hospitalized for respiratory infections, predominantly pneumonia. P3 at 3 months is hospitalized for pneumonia and haemorrhagic rash, after that monthly mother addresses with diffuse haemorrhagic rashes on the child skin. All patients have severe thrombocytopenia with normal MPV.
Despite an uncommon onset and a normal MPV, the association of severe thrombocytopenia with infections requires WAS suspicion and diagnosis.