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Clinical Guidelines for Congenital Athymia
LONG-TERM OUTCOME OF MILD WAS/XLT PATIENTS: EXPERIENCE FROM THE FRENCH NATIONAL REFERENCE CENTER FOR PRIMARY IMMUNODEFICIENCIES (CEREDIH).
Abstract
Background and Aims
Mutations of the gene encoding the Wiskott-Aldrich syndrome protein leads to Wiskott-Aldrich syndrome and X-linked thrombocytopenia-XLT (WAS/XLT). The disease severity can be assessed with the Ochs-Zhu score. Usually, patients aged 2 years and above and presenting with a score < or = 3 are considered as having a mild WAS/XLT disease. The management of these patients (including Bone Marrow Transplantation (BMT)) largely depends on this clinical scoring. However, there is no consensual management guidelines for mild WAS/XLT. Previous publications have shown that patients with a low score in the first two years of life may eventually present severe and life-threatening complications.
Methods
We extracted and analyzed WAS/XLT patients data included in the French national reference center for primary immunodeficiencies (CEREDIH) registry.
Results
Data from 284 patients were available. Median age at the time of last follow-up was 12.8 years (range 0.04-58.8). Ninety-eight patients were classified as severe and 156 as mild WAS/XLT. Overall survival was 58% among severe WAS vs 80% among mild WAS/XLT patients (p<10-3). Out of the latter group, 46 patients (29.5%) reached an Ochs score = or > 4 after 2 years of age. Overall, in the entire cohort, 117 patients underwent BMT, 28 of whom died of transplant-related complications. Remarkably, no death occurred in patients transplanted after 2010.
Conclusions
In the French cohort, one third of mild WAS/XLT patients developed severe life-threatening complications. As BMT outcome has remarkably improved during the last decade, our findings support BMT indication for all WAS/XLT patients.