Neutropenia is a rare complication of Diamond-Blackfan syndrome (congenital hypoplastic anaemia). Three patients are reported: all had neutropenia as well as anaemia, and to investigate the cause of the neutropenia culture of bone marrow for granulocyte-macrophage colony forming cells (GMCFCs) was performed. Two cases had a low incidence of GMCFCs, but the third case had a high incidence. These...

The above quotation is taken from the original clinical report in which Gardner and Diamond (1955) described the syndrome of autoerythrocyte sensitization as an unusual purpuric syndrome in which crops of apparently spontaneous painful inflammatory ecchymoses occurred in four women who had sustained physical injury shortly before the onset of symptoms. They postulated that, as a result, their p...

Ribosomopathies compose a collection of disorders in which genetic abnormalities cause impaired ribosome biogenesis and function, resulting in specific clinical phenotypes. Congenital mutations in RPS19 and other genes encoding ribosomal proteins cause Diamond-Blackfan anemia, a disorder characterized by hypoplastic, macrocytic anemia. Mutations in other genes required for normal ribosome bioge...

Painful bruising syndrome (PBS) is also known as Gardner-Diamond syndrome, auto erythrocyte sensitization syndrome or psychogenic purpura. It is a rare autoimmune vasculopathy characterized by painful ecchymotic lesions which mostly recur after emotional stress [1,2]. This syndrome is frequently observed in young women with psychiatric disorders [2]. PBS occurring in a psychiatrically normal pe...

BACKGROUND Shwachman-Diamond syndrome is an inherited multisystem disorder characterized by bone marrow and pancreatic dysfunction as well as metaphyseal dysostosis. Ninety percent of the patients have mutations in the Shwachman-Bodian-Diamond syndrome gene (SBDS). The relationship between SBDS and cell survival is unknown. In this study we investigated whether deficiency of the SBDS protein ca...