Comorbidities in Mild WAS/XLT Require Lifelong Follow-Up and Consideration of Definitive Treatment.

ABSTRACT: Loss of function mutations in the gene encoding WASP (Wiskott-Aldrich syndrome protein) result in Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia-XLT (WAS/XLT). The clinical severity of the disease can be assessed using the WAS clinical severity score. Typically, patients with a score of 3 or less at 2 years of age are considered to have mild WAS/XLT disease. However, patients with a low score in the first 2 years of life can still experience life-threatening complications, and there are no agreed guidelines for the management of these patients with mild WAS/XLT. We analyzed data on WAS/XLT patients from the French National Reference Centre for Primary Immunodeficiencies registry. At 10 December 2021, data were available for 261 patients, 170 of whom had mild WAS/XLT. The medi

SUBMITTER: Mallebranche C 

PROVIDER: S-EPMC12516653 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature