The majority of patient peripheral blood mononucleated cells are polyclonal naïve mature B cells, with a significant increase in immature, transitional B cell numbers (identified as CD10+). Percentages of circulating class-switched and memory B cells are very low, and in vitro studies show poor B cell differentiation and immunoglobulin secretion. Serum IgM is low in most patients, while total IgG and IgA may be on the low end of normal. Patients demonstrate defective antibody production against T cell-independent, polysaccharide-based vaccines. Some patients may not mount protective antibody titers to other vaccines, such as measles and varicella zoster virus. T cell counts are generally within or just above the normal range. In vitro stimulation of T cells demonstrates that both CD4+ and CD8+ T cells are less responsive than normal, suggesting mild T cell anergy in patients. A diagnosis of leukemia can generally be ruled out in these patients based on the unremarkable appearance of small resting lymphocytes in the blood; however, patients must be closely monitored for any signs of monoclonal or oligoclonal B cell expansion because there may be an increased risk for B cell malignancy. Specifically, one patient with<unk>  was reported as having developed B cell chronic lymphocytic leukemia (B-CLL) as an adult.
BENTA disease
Degos disease
Pogosta disease
TRIANGLE disease
Bahima disease
Fox–Fordyce disease
Cruveilhier–Baumgarten disease
Borna disease