Investigation of a synonymous mutation in Btk in a patient with agammaglobulinemia: A case report
IMMUNITY INFLAMMATION AND DISEASE(2023)
Abstract
Background X-linked agammaglobulinemia (XLA) is the most common form of agammaglobulinemia and is caused by mutations in Btk, which encodes Bruton tyrosine kinase (BTK).Case Description We describe a 36-year-old male who presented as an infant with hypogammaglobulinemia and sinopulmonary infections and was initially diagnosed with common variable immunodeficiency. Genetic testing showed he was hemizygous for Btk c.240G > A. This synonymous variant affecting the last nucleotide of exon 3 leads to aberrant splicing of most but not all mRNA transcripts.Conclusion We demonstrated reduced BTK protein expression confirming the pathogenicity of the variant and related our findings to genotype-phenotype relationship studies ina XLA caused by synonymous mutations.
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Key words
antibody deficiency,case report,inborn errors of immunity,primary immunodeficiency,X-linked agammaglobulinemia
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