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GENATLAS PHENOTYPE
last update : 17-01-2015
Symbol PPBL
Location 7p22.2
Name persistent polyclonal B-cell lymphocytosis
Other name(s) B cell expansion with NFKB and T cell anergy
Corresponding gene CARD11
Other symbol(s) BENTA
Main clinical features
  • characterized by onset in infancy of splenomegaly and polyclonal expansion of B cells, resulting in peripheral lymphocytosis
  • affected individuals also show mild immune dysfunction, including some defective antibody responses and T-cell anergy, with a potential predisposition to the development of B-cell malignancy
  • Genetic determination autosomal dominant
    Function/system disorder hematology
    Type disease
    Remark(s)