Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome

Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome, also known as mysm1 deficiency, is related to immune deficiency disease and congenital hemidysplasia with ichthyosiform erythroderma and limb defects. An important gene associated with Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome is MYSM1 (Myb Like, SWIRM And MPN Domains 1). Affiliated tissues include bone marrow and bone, and related phenotypes are anemia and bone marrow hypocellularity