R. Delage et al., Persistent polyclonal B-cell lymphocytosis: further evidence for a geneticdisorder associated with B-cell abnormalities, BR J HAEM, 114(3), 2001, pp. 666-670
Persistent polyclonal B-cell lymphocytosis (PPBL) is an intriguing disorder
diagnosed predominantly in women, usually cigarette smokers, characterized
by an increase in the number of polyclonal B lymphocytes. Abnormality of t
he B-cell population is also evidenced by the presence of multiple bcl-2/Ig
gene rearrangements and the finding of an additional long arm chromosome 3
q+ (13)(q10) within a significant proportion of B cells. The physiopatholog
y of PPBL is unknown but its association with the HLA DR7 phenotype suggest
s a possible genetic disorder. To further determine whether PPBL has a gene
tic predisposition, we have undertaken an extensive study in a large family
of a patient diagnosed with PPBL. Three individuals among the first-degree
relatives presented all the criteria for a diagnosis of PPBL, A slight inc
rease in serum IgM, without evidence of B-cell proliferation was shown in t
wo additional siblings, Multiple bcl-2/Ig gene rearrangements, a typical fe
ature of PPBL, were identified in 8/10 individuals among first-degree relat
ives. A statistically significant association was found between the presenc
e of these rearrangements and of a paternal HLA haplotype. We conclude that
PPBL has a familial occurrence suggesting an underlying genetic defect. Th
e development of the complete syndrome probably relies on unidentified addi
tional cofactors.