Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency

Picard, Capucine; von Bernuth, Horst; Ghandil, Pegah; Chrabieh, Maya; Levy, Ofer; Arkwright, Peter; McDonald, Douglas; Geha, Raif; Takada, Hidetoshi; Krause, Jens; Creech, C.; Ku, Cheng-Lung; Ehl, Stephan; Marodi, Laszlo; Al-Muhsen, Saleh; Al-Hajjar, Sami; Al-Ghonaium, Abdulaziz; Day-Good, Noorbibi; Holland, Steven; Gallin, John; Chapel, Helen; Speert, David; Rodriguez-Gallego, Carlos; Colino, Elena; Garty, Ben-Zion; Roifman, Chaim; Hara, Toshiro; Yoshikawa, Hideto; Nonoyama, Shigeaki; Domachowske, Joseph; Issekutz, Andrew; Tang, Mimi; Smart, Joanne; Zitnik, Simona; Hoarau, Cyrille; Kumararatne, Dinakantha; Thrasher, Adrian; Davies, E.; Bethune, Claire; Sirvent, Nicolas; de Ricaud, Dominique; Camcioglu, Yıldız; Vasconcelos, Julia; Guedes, Margarida; Vitor, Artur; Rodrigo, Carlos; Almazan, Francisco; Mendez, Maria; Ignacio Arostegui, Juan; Alsina, Laia; Fortuny, Claudia; Reichenbach, Janine; Verbsky, James; Bossuyt, Xavier; Doffinger, Rainer; Abel, Laurent; Puel, Anne; Casanova, Jean-Laurent

doi:10.1097/md.0b013e3181fd8ec3

Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency

Picard C., von Bernuth H., Ghandil P., Chrabieh M., Levy O., Arkwright P. D., ...Daha Fazla

MEDICINE, cilt.89, sa.6, ss.403-425, 2010 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 89 Sayı: 6
Basım Tarihi: 2010
Doi Numarası: 10.1097/md.0b013e3181fd8ec3
Dergi Adı: MEDICINE
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.403-425
İstanbul Üniversitesi Adresli: Hayır

Özet

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.