Hyper-IgM syndrome type 5
| Hyper IgM syndrome type 5 | |
|---|---|
AICDA gene is intact.[8]
These three patients instead had mutations in the catalytic domain of IgE and IgA types since the antibody producing B cells can not carry out the gene recombination steps necessary to class switch from immunoglobulin M (IgM) to the other three immunoglobulins types.
Hyper IgM syndromesHyper IgM syndromes is a group of Immunoglobulin (Ig) class switch recombination deficiencies are characterized by elevated serum IgM levels and a considerable deficiency in Immunoglobulins G (IgG), A (IgA) and E (IgE). As a consequence, people with HIGM have an increased susceptibility to infections.[9][7][10]
Signs and symptomsHyper IgM syndrome can have the following syndromes:[1][11]
Cause Different genetic defects cause HIgM syndrome, the vast majority are inherited as an IgM is the form of PathophysiologyCD40 is a humoral immune response is affected. Patients are more susceptible to infection.[1]
DiagnosisThe diagnosis of hyper IgM syndrome can be done via the following methods and tests:[1]
TreatmentIn terms of treatment for hyper IgM syndrome, there is the use of immunosuppressants, as well as other treatments, may be needed.[7]
References
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