Disease:Defects in MYD88 are the cause of MYD88 deficiency (MYD88D) [MIM:612260]; also called recurrent pyogenic bacterial infections due to MYD88 deficiency. Patients suffer from autosomal recessive , life-threatening , often recurrent pyogenic bacterial infections , including invasive pneumococcal disease , and die between 1 and 11 months of age. Surviving patients are otherwise healthy , with normal resistance to other microbes , and their clinical status improved with age. ,Function:Adapter protein involved in the Toll-like receptor and IL-1 receptor signaling pathway in the innate immune response. Acts via IRAK1 , IRAK2 and TRAF6 , leading to NF-kappa-B activation , cytokine secretion and the inflammatory response. Increases IL-8 transcription. May be involved in myeloid differentiation. ,similarity:Contains 1 death domain. ,similarity:Contains 1 TIR domain. ,subunit:Homodimer. Also forms heterodimers with TIRAP. Binds to TLR2 , TLR4 , IRAK1 and IRAK2 via their respective TIR domains. Interacts with IL1RL1. ,tissue specificity:Ubiquitous. ,
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