Cartilage‐hair hypoplasia, defective T‐cell function, and Diamond‐Blackfan anemia in an Amish child

Abstract

An Amish boy with cartilage‐hair hypoplasia (CHH) and cell‐mediated immunodeficiency developed “congenital” hypoplastic anemia (CHA) of the Diamond‐Blackfan type by two months. Alterations of T cell function have been described separately in CHH and CHA, but this is the first known report linking the two conditions. The patient has two relatives with CHH, one with associated leukemia and one with Hodgkin disease.