Article
Novel mutations in a Japanese patient with CD19 deficiency.
Genes and immunity - 1 Dec 2007
Kanegane H, Agematsu K, Futatani T, Sira M M, Suga K, Sekiguchi T, van Zelm M C, Miyawaki T
Abstract excerpt
Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by recurrent bacterial infections, hypogammaglobulinemia and low to normal numbers of circulating B cells. Mutations in the ICOS, TACI and CD19 genes have recently been identified in <10% of CVID patients. We, herein, describe two novel CD19 gene disruptions in an 8-year-old Japanese boy, who had been clinically diagnosed as having...
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