The Wiskott–Aldrich syndrome (WAS) is a complex primary immunodeficiency disorder that is characterized by recurrent infections, thrombocytopenia, eczema, and autoimmunity and caused by mutations in WAS.
We describe the rare occurrence of Wiskott-Aldrich syndrome (WAS) in identical twin brothers disease is described
Case report:
Monozygotic twin boys were born at 36 weeks of gestation following an uncomplicated delivery. After birth, evidence of thrombocytopenia was noted in both twins. Secondary to a concern for the possibility of neonatal alloimmune thrombocytopenia (NAIT), they were treated with intravenous immunoglobulin; however, follow-up demonstrated recurrent thrombocytopenia.WAS gene sequencing was completed which demonstrated deletion c482 del C.
A discordant phenotype has evolved in which one twin demonstrates asymptomatic thrombocytopenia, moderate infectious complications and the other symptomatic thrombocytopenia, severe infectious complications ( gastroenteritis, severe allergy)
Disease course deteriorated when the twin boys reached the age of 20 months. Considering the absence of an HLA identical relative and unrelated donor, the twins were referred to Institute san raffaele hospital Milan ( ITALY) where they are treated with gene therapy (GT).
At a follow-up of 20 months post-GT, the patienst are well, with normal peripheral blood counts,
Conclusion
Diagnosis of Wiskott Aldrich syndrome should be considered in any male infant who presents with early onset thrombocytopenia, eczema, and recurrent infections. The only curative therapy consists of hematopoietic stem cell transplantation (HSCT). HSC gene therapy has emerged as an innovative therapeutic strategy for various primary immunodeficiency disorders. WAS is a promising candidate disease for gene-therapy approaches.