SAMD9 genetic variants are associated with a multisystem disorder, MIRAGE, and SAMD9L genetic variants are responsible for neurological and hematological disorders, such as ataxia-pancytopenia (ATXPC) or SAMD9L-associated autoinflammatory disease (SAAD) [2,6–8]. This evidence concerns the gene SAMD9L and ataxia-pancytopenia syndrome.