Hyper-IgM syndrome with susceptibility to opportunistic infections
Engelsk navn: Hyper-IgM syndrome with susceptibility to opportunistic infections
Engelske synonym: HIGM with susceptibility to opportunistic infections
Definisjon
Hyper-IgM syndrome with susceptibility to opportunistic infections is a rare, genetic, non-severe combined immunodeficiency disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent or severe bacterial infections and increased susceptibility to opportunistic infections (in particular, pneumonia due to <i>P. jiroveci</i>, but also chronic cryptosporidial, cryptococcal, cytomegalovirus and toxoplasma infections). Hematologic disorders (neutropenia, anemia, thrombocytopenia) are frequently associated. Immunologic findings reveal decreased numbers of CD27+ memory B cells and lack of germinal center formation.
Fra Orphanet
ORPHA: 183663
Klassifiseringsnivå: Disorder
ICD-10: D80.5
