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Article

Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia.

Journal of clinical immunology - 1 Jan 2010

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

Abstract excerpt

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...

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Identifiers

PMID: 19904586
DOI: 10.1007/s10875-009-9341-5

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