Laboratory of Clinical Infectious Diseases

V. Koneti Rao, M.D.

Chief, ALPS Unit

Description of Research Program

Autoimmune Lymphoproliferative Syndrome (ALPS) is an inherited disorder of the immune system that affects both children and adults. In ALPS, unusually high numbers of white blood cells, called lymphocytes, accumulate in the lymph nodes, liver, and spleen, which can lead to enlargement of these organs. ALPS can also cause a variety of autoimmune problems such as anemia (low red blood cell count), thrombocytopenia (low platelets), and neutropenia (low neutrophil count).

The ALPS Unit aims to better understand this rare disease, to find the cause, and to uncover new ways to treat it. Its ultimate goal is to find a cure.

Research Group Members

Susan M. Price, R.N.; Kennichi Dowdell, Ph.D.; Katie Perkins, C.R.N.P.

Current Clinical Protocols

• 08-I-0053: Pilot (Phase I-II) Study of Valproic Acid (Depakote®) for the Treatment of the Autoimmune Lymphoproliferative Syndrome (ALPS)
• 02-I-0308: A Pilot Study of Fluorodeoxyglucose Positron Emission Tomography (FDG-PET) for the Evaluation of the Autoimmune Lymphoproliferative Syndrome (ALPS) and ALPS-Associated Lymphoma
• 95-I-0066: Genetic Analysis of Immune Disorders
• 93-I-0063: Study of the Immunopathogenesis, Natural History, and Genetics of Autoimmune Lymphoproliferative Syndrome (ALPS) Associated with an Expansion of CD4-8-/TCR alpha/beta+ T Cells and Defective Lymphocyte Apoptosis

Selected Publications

To view a complete listing, visit PubMed.

Rao VK, Oliveira JB. How I treat autoimmune lymphoproliferative syndrome. Blood. 2011 Nov 24;118(22):5741-51.

Oliveira JB, Bleesing JJ, Dianzani U, Fleisher TA, Jaffe ES, Lenardo MJ, Rieux-Laucat F, Siegel RM, Su HC, Teachey DT, Rao VK. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop. Blood. 2010 Oct 7;116(14):e35-40.

To view a complete listing, visit PubMed.

Oliveira JB, Bleesing JJ, Dianzani U, Fleisher TA, Jaffe ES, Lenardo MJ, Rieux-Laucat F, Siegel RM, Su HC, Teachey DT, Rao VK. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome: report from the 2009 NIH International Workshop. Blood. 2010 Jun 10.

Dowdell KC, Niemela JE, Price S, Davis J, Hornung RL, Oliveira JB, Puck JM, Jaffe ES, Pittaluga S, Cohen JI, Fleisher TA, Rao VK. Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. Blood. 2010 Jun 24;115(25):5164-9.

Turbyville JC, Rao VK. The autoimmune lymphoproliferative syndrome: A rare disorder providing clues about normal tolerance. Autoimmun Rev. 2010 May;9(7):488-93.

Caminha I, Fleisher TA, Hornung RL, Dale JK, Niemela JE, Price S, Davis J, Perkins K, Dowdell KC, Brown MR, Rao VK, Oliveira JB. Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome. J Allergy Clin Immunol. 2010 Apr;125(4):946-949.e6.

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