Clinical manifestations and BTK gene defect in 4 unrelated Taiwanese families with Bruton’s disease.

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dc.contributor.authorLee, Kuo-Hsi
dc.contributor.authorShyur, Shyh-Dar
dc.contributor.authorChu, Szu-Hung
dc.contributor.authorHuang, Li-Hsin
dc.contributor.authorKao, Yu-Hsuan
dc.contributor.authorLei, Wei-Te
dc.contributor.authorCheng, Chieh-Han
dc.contributor.authorLo, Chia-Yi
dc.contributor.authorChen, Chen-Kuan
dc.contributor.authorLiu, Ling-Chun
dc.date.accessioned2012-01-12T06:46:55Z
dc.date.available2012-01-12T06:46:55Z
dc.date.issued2011-09
dc.description.abstractBackground and objective: X-linked agammaglo-bulinemia (XLA, also called Bruton’s disease) is is an X-linked recessive disorder characterized by recurrent bacterial infections, usually occurring in the first few years of life. Here, we report the results of a BTK gene mutation screening study that was performed in Taiwanese families with the BTK gene defect to further understand the inheritance patterns of XLA patients in Taiwan and to avoid new cases of XLA within families. Materials and methods: In this study, 52 members of 4 unrelated Taiwanese families with the BTK gene defect were enrolled. We studied the immunologic reports of 6 symptomatic living male patients with confirmed BTK gene defects and correlated the findings with their clinical symptoms. The genomic DNA of the subjects was subjected to direct sequencing mutation analysis. Results: We screened 52 members of 4 unrelated Taiwanese families with the BTK gene defect for BTK gene mutation and found that there were 6 symptomatic living patients with a confirmed defect, 7 symptomatic deceased patients highly suspected to have had the defect and 11 asymptomatic female carriers. Conclusions: This is the first report in a series of the thorough screening for the BTK mutation and its carrier status in 4 unrelated Taiwanese families. One pedigree of our study comprises 4 generations. A complete BTK gene mutation study for the patient’s family members is strongly suggested.en_US
dc.identifier.citationLee Kuo-Hsi, Shyur Shyh-Dar, Chu Szu-Hung, Huang Li-Hsin, Kao Yu-Hsuan, Lei Wei-Te, Cheng Chieh-Han, Lo Chia-Yi, Chen Chen-Kuan, Liu Ling-Chun. Clinical manifestations and BTK gene defect in 4 unrelated Taiwanese families with Bruton’s disease. Asian Pacific Journal of Allergy and Immunology, 2011 Sept; 29(3): 260-265.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/136422
dc.language.isoenen_US
dc.source.urihttps://apjai.digitaljournals.org/index.php/apjai/article/viewFile/511/467en_US
dc.subjectX-linked agammaglobulinemiaen_US
dc.subjectBruton’s diseaseen_US
dc.subjectXLAen_US
dc.subjectBTK geneen_US
dc.titleClinical manifestations and BTK gene defect in 4 unrelated Taiwanese families with Bruton’s disease.en_US
dc.typeArticleen_US
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