hyperglycosylated hCG free beta-subunit |
Hyper-IL6 |
Mitocryptide-6A2 |
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known as HIGM1 or IMD3 (immunodeficiency with hyper-IgM immunodeficiency 3). This is a rare immunodeficiency characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. This syndrome is associated with a profound susceptibility to bacterial infections (Kroczek et al, 1994).
The disease is caused by mutations in TRAP (TNF-related activation protein), which is identical with CD40 ligand. The protein involved is the same as T-BAM, CD154. A new designation based on sequence homology is TNFSF5.
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