One hundred percent survival after transplantation of 34 patients with Wiskott-Aldrich syndrome over 20 years

How I manage patients with Wiskott Aldrich syndrome

“…Autoimmunity/Autoinflammatory features. Autoimmunity occurs frequently in classical WAS (over 40% in our cohort; Elfeky et al, 2018). In addition to AIT, other cytopenias (haemolytic anaemia and neutropenia) are common and managed with supportive care and immunosuppression.…”

“…Regardless of initial clinical presentation, we refer all children with absent WASp expression and a genetic mutation consistent with classical WAS for early consideration of definitive treatment and do not wait for emergence of a severe clinical phenotype. We aim for transplantation within the first 2 years of life with sub‐myeloablative conditioning, with excellent outcomes (Elfeky et al , ). Outcomes for children with WAS undergoing HSCT are also excellent internationally, with survival rates over 97% (European cohort 1979–2001 97% (Ozsahin et al , ), UK experience 100% (Elfeky et al , ; Slatter et al , )).…”

“…We aim for transplantation within the first 2 years of life with sub‐myeloablative conditioning, with excellent outcomes (Elfeky et al , ). Outcomes for children with WAS undergoing HSCT are also excellent internationally, with survival rates over 97% (European cohort 1979–2001 97% (Ozsahin et al , ), UK experience 100% (Elfeky et al , ; Slatter et al , )). Whilst use of sub‐myeloablative conditioning regimens have reduced long‐term effects, a number of post‐transplant complications appear to be higher in WAS, including graft‐versus‐host disease (GvHD), infection in the context of prior splenectomy and autoimmunity.…”

Hematopoietic Stem Cell Transplantation for Combined Immunodeficiencies, on Behalf of IEWP-EBMT

“…In the absence of a matched-donor, decision to transplant needs to be balanced. Transplantation from an alternative donor is more challenging even though most recent results show increasingly successful survival, allowing to consider transplant early in the disease course (43)(44)(45)(46). At the end, the final decision about transplant will depend on a conjunction of factors such as immunological parameters, the severity of past and current clinical manifestations, i.e., severity of infections, autoimmunity, need of immunosuppressive treatment to control the manifestations related to immune dysregulation and donor compatibility.…”

Immunosuppression for immunodeficiency: Getting smarter

“…Elfeky et al 9 report that 100% of patients with Wiskott-Aldrich syndrome survived HLA-matched and mismatched allogeneic HSCT at a median follow-up of 63 months (range, 6-172 months). This included 15 patients who had pre-existing autoimmunity and 12 patients with severe infections.…”