Hyper IgM syndrome
Hyper IgM syndrome is a rare primary immune deficiency disorders characterized by low or absent levels of serum IgG, IgA, IgE and normal or increased levels of serum IgM.
| Hyper IgM syndrome | |
|---|---|
| Immunoglobulin M | |
| Specialty | Immunology |
| Symptoms | Chronic diarrhea |
| Types | Hyper-IgM syndrome type 1, 2, 3, 4 and 5 |
| Diagnostic method | MRI, Chest radiography |
| Treatment | Allogeneic hematopoietic cell transplantation |
They are resulting 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 syndrome 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.
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