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Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome

  1. Author:
    Dowdell, K. C.
    Niemela, J. E.
    Price, S.
    Davis, J.
    Hornung, R. L.
    Oliveira, J. B.
    Puck, J. M.
    Jaffe, E. S.
    Pittaluga, S.
    Cohen, J. I.
    Fleisher, T. A.
    Rao, V. K.

  2. Author Address

    [Dowdell, Kennichi C.; Price, Susan; Davis, Joie; Cohen, Jeffrey I.; Rao, V. Koneti] NIAID, Lab Clin Infect Dis, NIH, Bethesda, MD 20892 USA. [Niemela, Julie E.; Oliveira, Joao Bosco; Fleisher, Thomas A.] NIH, Dept Lab Med, Warren Grant Magnuson Clin Ctr, Bethesda, MD 20892 USA. [Hornung, Ronald L.] NCI, Clin Serv Program, SAIC Frederick Inc, Frederick, MD 21701 USA. [Puck, Jennifer M.] Univ Calif San Francisco, Dept Pediat, San Francisco, CA 94143 USA. [Jaffe, Elaine S.; Pittaluga, Stefania] NCI, Pathol Lab, Ctr Canc Res, NIH, Bethesda, MD 20892 USA.;Dowdell, KC, NIAID, Lab Clin Infect Dis, NIH, 10 Ctr Dr,Rm 11N234, Bethesda, MD 20892 USA.;kdowdell@niaid.nih.gov
    1. Year: 2010
    2. Date: Jun
  2. Journal: Blood
    1. 115
    2. 25
    3. Pages: 5164-5169
  4. Type of Article: Proceedings Paper
  5. ISSN: 0006-4971
  1. Abstract:

    Autoimmune lymphoproliferative syndrome (ALPS) is characterized by childhood onset of lymphadenopathy, hepatosplenomegaly, autoimmune cytopenias, elevated numbers of double-negative T (DNT) cells, and increased risk of lymphoma. Most cases of ALPS are associated with germline mutations of the FAS gene (type Ia), whereas some cases have been noted to have a somatic mutation of FAS primarily in their DNT cells. We sought to determine the proportion of patients with somatic FAS mutations among a group of our ALPS patients with no detectable germline mutation and to further characterize them. We found more than one-third (12 of 31) of the patients tested had somatic FAS mutations, primarily involving the intracellular domain of FAS resulting in loss of normal FAS signaling. Similar to ALPS type Ia patients, the somatic ALPS patients had increased DNT cell numbers and elevated levels of serum vitamin clinical and laboratory phenotype to that of ALPS type Ia. These findings also highlight the potential role for somatic mutations in the pathogenesis of nonmalignant and/or autoimmune hematologic conditions in adults and children. (Blood. 2010; 115(25):5164-5169)

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External Sources

  1. View Full Text
  2. DOI: 10.1182/blood-2010-01-263145
  3. View record in Web of Science®
  4. WOS: 000279113100009

Library Notes

  1. Fiscal Year: FY2009-2010
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