NDLI: Clinical Characteristics and Genotype-phenotype Correlation in 62 Patients with X-linked Agammaglobulinemia

Content Provider	Springer Nature Link
Author	Lee, Pamela P. W. Chen, Tong Xin Jiang, Li Ping Chan, Koon Wing Yang, Wanling Lee, Bee Wah Chiang, Wen Chin Chen, Xiang Yuan Fok, Susanna F. S. Lee, Tsz Leung Ho, Marco H. K. Yang, Xi Qiang Lau, Yu Lung
Copyright Year	2009
Abstract	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.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.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.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.
Starting Page	121
Ending Page	131
Page Count	11
File Format	PDF
ISSN	02719142
Journal	Journal of Clinical Immunology
Volume Number	30
Issue Number	1
e-ISSN	15732592
Language	English
Publisher	Springer US
Publisher Date	2009-11-11
Publisher Place	Boston
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	X-linked agammaglobulinemia XLA Btk mutations genotype-phenotype correlation Chinese Medical Microbiology Internal Medicine Infectious Diseases Immunology
Content Type	Text
Resource Type	Article
Subject	Immunology and Allergy Immunology

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