Abstract
X-linked agammaglobulinemia (XLA) is a primary B cell immunodeficiency disorder, caused by a defect in the Bruton tyrosine kinase (BTK) gene. Here, we describe a novel four base pair mutation (838delGAGT) in intron 9 of the BTK gene leading to the skipping of exon 9 in a 2.5-year-old boy with this disorder.
Publication types
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Case Reports
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Agammaglobulinaemia Tyrosine Kinase
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Agammaglobulinemia / enzymology
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Agammaglobulinemia / genetics*
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Child, Preschool
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Chromosomes, Human, X*
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Exons / genetics
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Genetic Linkage
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Humans
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Introns / genetics
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Male
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Mutation
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Polymerase Chain Reaction
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Protein-Tyrosine Kinases / genetics*
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Reverse Transcriptase Polymerase Chain Reaction
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src Homology Domains*
Substances
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Protein-Tyrosine Kinases
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Agammaglobulinaemia Tyrosine Kinase
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BTK protein, human