Anemia and Neutropenia

  • Kristin ShimanoEmail author


Clinical features of autoimmune lymphoproliferative syndrome (ALPS) include cytopenias, chronic lymphadenopathy and hepatosplenomegaly

Elevated double negative T cells are the characteristic laboratory abnormality in ALPS

Autosomal dominant mutations in FAS, leading to defective apoptosis of lymphocytes, are causal in the majority of cases of ALPS

Sirolimus is an effective treatment for the lymphadenopathy and cytopenia in many patients with ALPS

Patients with ALPS are at increased risk for development of lymphoma and should be monitored for this complication


Autoimmune lymphoproliferative syndrome FAS Double negative T cells 


  1. 1.
    Rao VK, Oliveira JB. How I treat autoimmune lymphoproliferative syndrome. Blood. 2011;118(22):5741–51.CrossRefGoogle Scholar
  2. 2.
    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;116(14):e35–40.CrossRefGoogle Scholar
  3. 3.
    Volkl S, Rensing-Ehl A, Allgauer A, Schreiner E, Lorenz MR, Rohr J, Klemann C, Fuchs I, Schuster V, von Bueren AO, Naumann-Bartsch N, Gambineri E, Siepermann K, Kobbe R, Nathrath M, Arkwright PD, Miano M, Stachel KD, Metzler M, Schwarz K, Kremer AN, Speckmann C, Ehl S, Mackensen A. Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome. Blood. 2016;128(2):227–38.CrossRefGoogle Scholar
  4. 4.
    Bride KL, Vincent T, Smith-Whitley K, Lambert MP, Bleesing JJ, Seif AE, Manno CS, Casper J, Grupp SA, Teachey DT. Sirolimus is effective in relapsed/refractory autoimmune cytopenias: results of a prospective multi-institutional trial. Blood. 2016;127(1):17–28.CrossRefGoogle Scholar
  5. 5.
    Price S, Shaw PA, Seitz A, Joshi G, Davis J, Niemela JE, Perkins K, Hornung RL, Folio L, Rosenberg PS, Puck JM, Hsu AP, Lo B, Pittaluga S, Jaffe ES, Fleisher TA, Rao VK, Lenardo MJ. Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations. Blood. 2014;123(13):1989–99.CrossRefGoogle Scholar

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© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Hematology/Oncology and Bone Marrow Transplant, Department of PediatricsUCSF Benioff Children’s HospitalSan FranciscoUSA

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