Mutations in the SBDS gene in acquired aplastic anemia

Perforin gene mutations in patients with acquired aplastic anemia.

Perforin is a cytolytic protein expressed mainly in activated cytotoxic lymphocytes and natural killer cells. Inherited perforin mutations account for 20% to 40% of familial hemophagocytic lymphohistiocytosis, a fatal disease of early childhood characterized by the absence of functional perforin. Aplastic anemia, the paradigm of immune-mediated bone marrow failure syndromes, is characterized by...

Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome.

CLINICAL FINDINGS Aplastic anemia was diagnosed at birth for a first child from healthy nonconsanguineous parents. The girl had hypoglycemia, which normalized within 2 months. Cow milk allergy was suspected initially, because of skin lesions and diarrhea, followed by severe growth retardation. Clinical and radiologic symptoms gradually became typical for Shwachman-Diamond syndrome. Two common m...

Acquired aplastic anemia.

In aplastic anemia, hematopoiesis fails: Blood cell counts are extremely low, and the bone marrow appears empty. The pathophysiology of aplastic anemia is now believed to be immune-mediated, with active destruction of blood-forming cells by lymphocytes. The aberrant immune response may be triggered by environmental exposures, such as to chemicals and drugs or viral infections and, perhaps, endo...

Aplastic Anemia - Diagnos tics and Therapy of Acquired Aplastic Anemia

Aplastic Anemia: Acquired and Inherited

Acquired aplastic anemia is a clinical syndrome in which there is a deficiency of red cells, neutrophils, monocytes, and platelets in the blood, and fatty replacement of the marrow with a near absence of hematopoietic precursor cells. Reticulocytopenia, neutropenia, monocytopenia, and thrombocytopenia, when severe, are life-threatening because of the risk of infection and bleeding, complicated ...