Article
Functional assessment of the mutational effects of human IRAK4 and MyD88 genes.
Molecular immunology - 1 Mar 2014
Yamamoto Takahiro, Tsutsumi Naotaka, Tochio Hidehito, Ohnishi Hidenori, Kubota Kazuo, Kato Zenichiro, Shirakawa Masahiro, Kondo Naomi
Abstract excerpt
Human interleukin-1 receptor-associated kinase 4 (IRAK4) deficiency and myeloid differentiating factor 88 (MyD88) deficiency syndromes are two primary immune-deficiency disorders with innate immune defects. Although new genetic variations of IRAK4 and MyD88 have recently been deposited in the single nucleotide polymorphism (SNP) database, the clinical significance of these variants has not yet been established....
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