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 B(12), interleukin-10, and sFAS-L. These data support testing for somatic FAS mutations in DNT cells from ALPS patients with no detectable germline mutation and a similar 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.
journal_name
Bloodjournal_title
Bloodauthors
Dowdell KC,Niemela JE,Price S,Davis J,Hornung RL,Oliveira JB,Puck JM,Jaffe ES,Pittaluga S,Cohen JI,Fleisher TA,Rao VKdoi
10.1182/blood-2010-01-263145subject
Has Abstractpub_date
2010-06-24 00:00:00pages
5164-9issue
25eissn
0006-4971issn
1528-0020pii
blood-2010-01-263145journal_volume
115pub_type
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