Hyper IgM syndrome

Hyper IgM syndrome

Infobox_Disease
Name = PAGENAME


Caption = Immunoglobulin M
DiseasesDB =
ICD10 = ICD10|D|80|5|d|80
ICD9 = ICD9|279.05
ICDO =
OMIM =
MedlinePlus =
eMedicineSubj = ped
eMedicineTopic = 2457
MeshID = D053306

Hyper IgM syndrome is a family of genetic disorders in which the level of Immunoglobulin M (IgM) antibodies is relatively high. The disorder causes immunodeficiencies, including a higher than normal susceptibility to various types of infections. Individuals with hyper-IgM syndrome typically also have a low number of infection-fighting neutrophil cells.

Pathophysiology

IgM is the form of antibody that all B cells produce initially, before they undergo class switching due to exposure to a recognized antigen. Healthy B cells efficiently switch to other types of antibodies as needed to attack invading bacteria, viruses, and other pathogens. Generally, in people with hyper IgM syndromes, the B cells keep making IgM antibodies because they can't switch to a different kind of antibody. This results in an overproduction of IgM antibodies and an underproduction of all other types. Some hyper-IgM syndromes are actually deficiencies of the other immunoglobulin classes: IgA, IgG, and IgE.

Types

Five types have been characterized:

* Hyper-IgM syndrome type 1, characterized by mutations of the "CD40LG" gene. In this type, T cells cannot tell B cells to switch classes.

* Hyper-IgM syndrome type 2, characterized by mutations of the "AICDA" gene. In this type, B cells cannot recombine genetic material to change heavy chain production, which is a required step in switching classes.

* Hyper-IgM syndrome type 3, characterized by mutations of the "CD40" gene. In this type, B cells cannot receive the signal from T cells to switch classes.

* Hyper-IgM syndrome type 4, which is a defect in class switch recombination downstream of the AICDA gene that does not impair Somatic Hyper Mutation. [cite journal |author=Lougaris V, Badolato R, Ferrari S, Plebani A |title=Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features |journal=Immunol. Rev. |volume=203 |issue= |pages=48–66 |year=2005 |pmid=15661021 |doi=10.1111/j.0105-2896.2005.00229.x |url=http://www.blackwell-synergy.com/openurl?genre=article&sid=nlm:pubmed&issn=0105-2896&date=2005&volume=203&spage=48]

* Hyper-IgM syndrome type 5, characterized by mutations of the "UNG" gene.

References


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