Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency.

Journal article

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 were indistinguishable. There were no severe viral, parasitic, and fungal disease...

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Authors: Picard, C; von Bernuth, H; Ghandil, P; Chrabieh, M; Levy, O

• Publication status: Published
• Journal: Medicine
• Volume: 89
• Issue: 6
• Pages: 403-425
• Publication date: 2010-11-01
• DOI: 10.1097/md.0b013e3181fd8ec3
• EISSN: 1536-5964
• ISSN: 0025-7974
• Language: English
• Keywords: Adolescent; Mutation; Humans; Bacterial Infections; Anti-Bacterial Agents; Immunity; Myeloid Differentiation Factor 88; Female; Male; Interleukin-1 Receptor-Associated Kinases; Child; Infant; Child, Preschool; Toll-Like Receptors; Receptors, Interleukin-1; Disease Susceptibility