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Title: Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia
Authors: Lee, P.P.W.
Chen, T.-X.
Jiang, L.-P.
Chan, K.-W.
Yang, W.
Lee, B.-W. 
Chiang, W.-C.
Chen, X.-Y.
Fok, S.F.S.
Lee, T.-L.
Ho, M.H.K.
Yang, X.-Q.
Lau, Y.-L.
Keywords: Btk mutations
Genotype-phenotype correlation
X-linked agammaglobulinemia
Issue Date: Jan-2010
Citation: Lee, P.P.W., Chen, T.-X., Jiang, L.-P., Chan, K.-W., Yang, W., Lee, B.-W., Chiang, W.-C., Chen, X.-Y., Fok, S.F.S., Lee, T.-L., Ho, M.H.K., Yang, X.-Q., Lau, Y.-L. (2010-01). Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia. Journal of Clinical Immunology 30 (1) : 121-131. ScholarBank@NUS Repository.
Abstract: Introduction: X-linked agammagobulinemia (XLA) is a primary immunodeficiency disorder caused by Bruton's tyrosine kinase (Btk) gene mutation. Recent studies suggested genotype-phenotype correlation in XLA, but a definitive association remains controversial. Patients and Methods: We examined the relationship between specific Btk gene mutations and severity of clinical presentation in 62 patients with XLA. Disease severity was assessed by the age of disease onset and the presence of severe infections, while mutations were classified into severe and mild based on structural and functional consequence by bioinformatics analysis. Results: Fifty-six Btk mutations were identified in 62 patients from 57 kindreds. Variation in phenotypes was observed, and there was a tendency of association between genotype and age of disease onset as well as occurrence of severe infections. Conclusion: A critical analysis of the circumstances upon presentation also revealed that under-recognition of recurrent infections and relevant family history are important hurdles to timely diagnosis of XLA. © 2009 Springer Science+Business Media, LLC.
Source Title: Journal of Clinical Immunology
ISSN: 02719142
DOI: 10.1007/s10875-009-9341-5
Appears in Collections:Staff Publications

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