A syndrome involving intrauterine growth retardation, microcephaly, cerebellar hypoplasia, B lymphocyte deficiency, and progressive pancytopenia
P Revy, M Busslinger, K Tashiro, F Arenzana… - …, 2000 - publications.aap.org
We report a new complex syndrome involving profound failure to thrive with severe
intrauterine growth retardation, cerebellar abnormalities, microcephaly, a complete lack of B
lymphocyte development, and secondary, progressive marrow aplasia. B cell differentiation
was found to be blocked at the pro-B cell stage. Although not strictly proven, a genetic origin
is likely, according to similar cases reported in the literature. Three candidate genes, PAX5,
encoding B cell-specific activator protein, a factor involved in B cell lineage commitment …
intrauterine growth retardation, cerebellar abnormalities, microcephaly, a complete lack of B
lymphocyte development, and secondary, progressive marrow aplasia. B cell differentiation
was found to be blocked at the pro-B cell stage. Although not strictly proven, a genetic origin
is likely, according to similar cases reported in the literature. Three candidate genes, PAX5,
encoding B cell-specific activator protein, a factor involved in B cell lineage commitment …
