BTK mutations in patients with X-linked agammaglobulinemia: Lack of correlation between presence of peripheral B lymphocytes and specific mutations

X‐linked agammaglobulinemia (XLA) is a human antibody deficiency that results from mutation of the tyrosine kinase btk. We tested the hypothesis that XLA patients who varied from the classic phenotype of XLA by presence of normal or near normal number of peripheral B lymphocytes would have a set of...

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Bibliographic Details
Published in:Human mutation 2000-12, Vol.16 (6), p.528-529
Main Authors: Tao, Luan, Boyd, Mark, Gonye, Greg, Malone, Barbara, Schwaber, Jerrold
Format: Article
Language:English
Subjects:
Agammaglobulinemia - enzymology
Agammaglobulinemia - genetics
Agammaglobulinemia - pathology
B lymphocytes
B-Lymphocytes - enzymology
B-Lymphocytes - pathology
Bruton tyrosine kinase
BTK
Cell Differentiation - genetics
Cell Differentiation - immunology
Genetic Linkage - genetics
Humans
Lymphopenia - genetics
Lymphopenia - pathology
Male
Mutation - genetics
Protein-Tyrosine Kinases - biosynthesis
Protein-Tyrosine Kinases - deficiency
Protein-Tyrosine Kinases - genetics
X Chromosome - genetics
X-linked agammaglobulinemia
XLA
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Summary:X‐linked agammaglobulinemia (XLA) is a human antibody deficiency that results from mutation of the tyrosine kinase btk. We tested the hypothesis that XLA patients who varied from the classic phenotype of XLA by presence of normal or near normal number of peripheral B lymphocytes would have a set of mutations of BTK that is different from the mutations found in patients without peripheral B lymphocytes. The mutations of BTK we found in two patients with normal numbers of peripheral B lymphocytes have been previously identified in patients without peripheral B lymphocytes. A third patient, without peripheral B cells, was found to express normal levels of wild type btk. Exmination of the mutations of the BTK gene in patients in the BTKbase who were identified as having peripheral B lymphocytes found that these same mutations, or mutations of the same protein domains, were also present in patients identified as lacking peripheral B lymphocytes. Analysis of mutations in BTK has previously led to the conclusion that severity of disease in XLA cannot be predicted from the specific mutation of BTK. The results of this study suggest that whether an XLA patient will develop peripheral B lymphocytes cannot be predicted from the specific mutation of BTK. Hum Mutat 16:528–529, 2000. © 2000 Wiley‐Liss, Inc.
ISSN:1059-7794
1098-1004
DOI:10.1002/1098-1004(200012)16:6<528::AID-HUMU12>3.0.CO;2-T