Conditions / Genetic
X-linked hyper IgM syndrome
info · Genetic
A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene on chromosome Xq26.3.
Signs and symptoms
- Hoarse voice
- Decreased circulating IgG concentration
- Reduced total natural killer cell count
- Decreased class-switched memory B cell proportion
- Dysphonia
- Inverted CD4:CD8 ratio
- Recurrent otitis media
- Highly elevated creatine kinase
- Increased circulating IgM concentration
- Erythema
Also known as: HIGM1; X-linked hyper-IgM immunodeficiency; XHIM; hyper-IgM immunodeficiency syndrome type 1; hyper-IgM syndrome 1