Abstract
BackgroundX-linked agammaglobulinemia (XLA) is a primary immune deficiency characterized by recurrent bacterial infections and profoundly depressed serum immunoglobulin levels and circulating mature B cells. It is caused by mutations of the Bruton tyrosine kinase (BTK) gene and is the most common form of inherited antibody deficiency. To our knowledge, this is the first report of XLA from Vietnam.MethodsWe investigated the BTK gene mutations and clinical features of four unrelated Vietnamese children.ResultsThe mean ages at onset and at diagnosis were 2.5 and 8 years, respectively. All patients had a medical history of otitis media, pneumonia, and septicemia at the time of diagnosis. Other infections reported included sinusitis, bronchiectasis, arthritis, skin infections, meningitis, and recurrent diarrhea. We identified one previously reported mutation (c.441G >A) and three novel mutations: two frameshifts (c.1770delG and c.1742 delG), and one nonsense (c.1249A >T).ConclusionsThe delayed diagnosis may be attributable to insufficient awareness of this rare disease on the background of frequent infections even in the immunocompetent pediatric population in Vietnam. Our results further support the importance of molecular genetic testing in diagnosis of XLA.
Highlights
X-linked agammaglobulinemia (XLA) is a primary immune deficiency characterized by recurrent bacterial infections and profoundly depressed serum immunoglobulin levels and circulating mature B cells
X-linked agammaglobulinemia (XLA, OMIM 300300), first described by Bruton in 1952, is a fully penetrant X-linked recessive disorder characterized by recurrent bacterial infections, profound hypogammaglobulinemia and marked decrease in the number of B cells in the presence or absence of positive family history
The gene responsible for XLA is the Bruton Tyrosine Kinase (BTK) gene mapped to the long arm of chromosome X in the region of Xq 21.3- q 22 [2,4,6,7,8]
Summary
X-linked agammaglobulinemia (XLA) is a primary immune deficiency characterized by recurrent bacterial infections and profoundly depressed serum immunoglobulin levels and circulating mature B cells It is caused by mutations of the Bruton tyrosine kinase (BTK) gene and is the most common form of inherited antibody deficiency. X-linked agammaglobulinemia (XLA, OMIM 300300), first described by Bruton in 1952, is a fully penetrant X-linked recessive disorder characterized by recurrent bacterial infections, profound hypogammaglobulinemia and marked decrease in the number of B cells in the presence or absence of positive family history. It occurs in approximately one in 200 000 individuals [1,2,3,4,5]. We report for the first time 4 Vietnamese boys with XLA, confirmed by mutation analysis of the BTK gene in an attempt to improve the diagnosis and management of XLA in Vietnam
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