hyperglycosylated hCG free beta-subunit |
hyper-IgM immunodeficiency syndrome 1 |
MADH-interacting protein |
||
known as HIGM1 [hyper-IgM immunodeficiency syndrome 1] 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). Patients also show abnormally low number of neutrophils (neutropenia) (for overview see: Levy J et al, 1997).
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
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