Article
[Widely divergent clinical phenotype of x-linked agammaglobulinemia in two cousins].
Nederlands tijdschrift voor geneeskunde - 22 May 2004
Jansen A G, Noordzij J G, Bröcker-Vriends A H, van Dongen J J, van Tol M J, Bredius R G
Abstract excerpt
X-linked agammaglobulinaemia (XLA) is a primary immunodeficiency caused by a mutation in the gene encoding Bruton's tyrosine kinase (BTK). The classical presentation of XLA consists of the almost complete absence of B-lymphocytes and immunoglobulins in the peripheral blood leading to severe, mainly bacterial, upper and lower respiratory-tract infections already in early childhood. Irrespective of the kind of...
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