The case for adding X-linked agammaglobulinemia to newborn screening
Abstract
X-linked agammaglobulinemia typically presents in infancy or childhood with microbial infections as a consequence of low to absent mature B cells and pan-hypogammaglobulinemia, caused by mutations in BTK. However, atypical presentation in some cases may delay the diagnosis as well as the implementation of appropriate replacement therapy.
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REFERENCES
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Tsukada S., Saffran D.C., Rawlings, Parolini O., Allen R.C., Klisak I., Sparkes R.S., Kubagawa H., Mohandas T., and Quan S. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia Cell. 1993 72 2 279 -280
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Published In
LymphoSign Journal
Volume 2 • Number 2 • June 2015
Pages: 53 - 55
History
Accepted manuscript online: 11 September 2014
Version of record online: 29 October 2014
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Chaim M. Roifman MD, FRCP, FCACB. 2015. The case for adding X-linked agammaglobulinemia to newborn screening. LymphoSign Journal.
2(2): 53-55. https://doi.org/10.14785/lpsn-2014-0010
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