Common · History
Hyper IgM syndrome
Primary immune deficiency disorders characterized by defective CD40 signaling
Hyper IgM syndrome is a group of rare primary immune deficiency disorders characterized by low or absent levels of serum IgG, IgA, IgE and normal or increased levels of serum IgM. They result from mutations in the pathway from B-cell activation to isotype class switching.
From Wikipedia
Hyper IgM syndrome is a group of rare primary immune deficiency disorders characterized by low or absent levels of serum IgG, IgA, IgE and normal or increased levels of serum IgM. They result from mutations in the pathway from B-cell activation to isotype class switching. Patients with HIGM are usually diagnosed within the first two years of life and experience severe immunosuppression. This group of syndromes is also known as immunoglobulin class switch recombination (Ig-CSR) deficiencies. The most common causes are mutations in the CD40 Ligand (CD40LG) gene located at Xq26.3-27 leading to X-linked HIGM (XHIGM) in males.
Text: Wikipédia, CC BY-SA 4.0. · Image: Wikimedia Commons (CC BY-SA 2.5) ·