BloodA Landscape of Germ Line Mutations in a Cohort of Inherited Bone Marrow Failure (IBMF) Patients

Bone marrow failure in children and young adults is often suspected to be inherited; however, in many cases, diagnosis remains uncertain. A new study involving 179 patients (from 173 families) found that implementing precision medicine at diagnosis can improve patient management, along with the use of family counseling. This study published in Blood expands the “portrait” of IBMF syndromes and explores some newly recognized disease entities.