Schematic representation of SAMHD1 mutations and relationship to other genetic lesions. (A) Schematic representation of SAMHD1 protein. (Upper) Mutations found in current study. (Lower) Known mutations in AGS patients. Mutations common to both diseases are shown in red. (B) Associations between SAMHD1 mutations and other genetic aberrations and clinical outcome. cnLOH, copy neutral loss of heterozygosity; CLL239*, AGS patient; Response, clinical response according to the iwCLL guidelines⁴⁶ ; PR, partial response; CR, complete response; SD, stable disease; MRD, minimal residual disease; N/A, not available.