Article
Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency.
Medicine - 1 Nov 2010
Picard Capucine, von Bernuth Horst, Ghandil Pegah, Chrabieh Maya, Levy Ofer, Arkwright Peter D, McDonald Douglas, Geha Raif S, Takada Hidetoshi, Krause Jens C, Creech C Buddy, Ku Cheng-Lung, Ehl Stephan, Maródi László, Al-Muhsen Saleh, Al-Hajjar Sami, Al-Ghonaium Abdulaziz, Day-Good Noorbibi K, Holland Steven M, Gallin John I, Chapel Helen, Speert David P, Rodriguez-Gallego Carlos, Colino Elena, Garty Ben-Zion, Roifman Chaim, Hara Toshiro, Yoshikawa Hideto, Nonoyama Shigeaki, Domachowske Joseph, Issekutz Andrew C, Tang Mimi, Smart Joanne, Zitnik Simona Eva, Hoarau Cyrille, Kumararatne Dinakantha S, Thrasher Adrian J, Davies E Graham, Bethune Claire, Sirvent Nicolas, de Ricaud Dominique, Camcioglu Yildiz, Vasconcelos Júlia, Guedes Margarida, Vitor Artur Bonito, Rodrigo Carlos, Almazán Francisco, Méndez Maria, Aróstegui Juan Ignacio, Alsina Laia, Fortuny Claudia, Reichenbach Janine, Verbsky James W, Bossuyt Xavier, Doffinger Rainer, Abel Laurent, Puel Anne, Casanova Jean-Laurent
Abstract excerpt
Autosomal recessive interleukin-1 receptor-associated kinase (IRAK)-4 and myeloid differentiation factor (MyD)88 deficiencies impair Toll-like receptor (TLR)- and interleukin-1 receptor-mediated immunity. We documented the clinical features and outcome of 48 patients with IRAK-4 deficiency and 12 patients with MyD88 deficiency, from 37 kindreds in 15 countries.The clinical features of IRAK-4 and MyD88 deficiency...
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