Clinical, immunological and genetic features in Taiwanese patients with the phenotype of hyper-immunoglobulin E recurrent infection syndromes (HIES).

doi:10.1016/j.imbio.2011.01.008

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Clinical, immunological and genetic features in Taiwanese patients with the phenotype of hyper-immunoglobulin E recurrent infection syndromes (HIES).

Immunobiology - 1 Aug 2011

Lee Wen-I, Huang Jing-Long, Lin Syh-Jae, Yeh Kuo-Wei, Chen Li-Chen, Ou Liang-Shiou, Yao Tsung-Chieh, Hsieh Meng-Ying, Huang Yhu-Chering, Yu Hong-Ren, Kuo Ho-Chang, Yang Kunder D, Jaing Tang-Her

Abstract excerpt

Hyper-immunoglobulin E recurrent infection syndromes (HIES) have distinct features, with identified associated mutations of STAT3, TYK2, and DOCK8. Among 197 Taiwanese patients with primary immunodeficiency on a referral-base of over 23 million inhabitants, STAT3 (R382W and Q469R) and DOCK8 mutations (exon 1-9 deletion) were identified in two patients each from six AD-HIES and five AR-HIES patients, respectively....

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Clinical, immunological and genetic features in Taiwanese patients with the phenotype of hyper-immunoglobulin E recurrent infection syndromes (HIES).

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