MCQ Hematology Answer 10

Answer: C

The autoimmune lymphoproliferative syndrome (ALPS) arises in early childhood in patients who inherit mutations in genes that mediate apoptosis. ALPS is inherited in an autosomal dominat fashion. The syndrome is defined as chronic, non-malignant lymphoproliferation associated with an elevated percentage (>1%) of double negative T lymphocytes (CD3+, CD4-, CD8-) and defective lymphocyte apoptosis. Autoimmune syndromes are commonly associated with ALPS. The most common autoimmune diseases are hemolytic anemia and ITP. Most cases of ALPS are associated with specific Fas mutations; mutations in other apoptosis genes are thought to underlie cases in patients with normal Fas. Peripheral blood or tissues, show no evidence of clonality or chromosome abnormalities.

Straus, S.E., Sneller, M., Lenardo, M.J., Puck, J.M.,Strober, W. An inherited disorder of lymphocyte apoptosis: The autoimmune lymphoproliferative syndrome. Ann.Int.Med, 1999,130:591-601.

Category: Hematology MCQs