Name = PAGENAME
ICD10 = ICD10|D|89|0|d|80, ICD10|D|89|2|d|80
ICD9 = ICD9|289.89
MeshID = D006942
Hypergammaglobulinemia is a medical condition with elevated levels of
It is a type of
Hypergammaglobulinemia is a condition that is characterized by the increased levels of a certain immunoglobulin in the blood serum.Health Communication Network. Immunoproliferative disorders- Topic Tree. http://www.use.hcn.com.au/subject.%60Immunoproliferative%20Disorders%60/home.html. Accessed March 2007.] The name of the disorder refers to the position of the excess of proteins after serum protein electrophoresis (found in the gammaglobulin region). Most hypergammaglobulinemias are caused by an excess of immunoglobulin M (IgM), because this is the default immunoglobulin type prior to class switching. Some types or hypergammaglobulinemia are actually caused by a deficiency in the other major types of immunoglobulins, which are
IgA, IgEand IgG. There are 5 types of hypergammaglobulinemias associated with hyper IgM.OMIM|308230|Immunodeficiency with hyper IgM]
X-linked immunodeficiency with hyper–immunoglobulin M, which is also called type 1 hyper IgM, is a rare form of primary immunodeficiency disease caused by a mutation in the Tumor Necrosis Factor Super Family member 5 (
TNFSF5) gene, which codes for CD40 ligand. This gene is located on the long arm of the X chromosome at position 26, denoted Xq26.eMedicine|ped|2457|Park LC X-linked Immunodeficiency with hyper IgM] Normally, CD40 ligand is expressed on activated T cells, and is necessary to induce immunoglobulin class switching from IgM to the other immunoglobulin types. It does this by binding to its ligand, CD40, which is found expressed on the surface of B cells.cite book |author=Lichtman, Andrew H.; Abbas, Abul K. |title=Cellular and molecular immunology |publisher=Saunders |location=Philadelphia |year=2003 |pages= |edition=5th ed. |isbn=0-7216-0008-5 |oclc= |doi= |accessdate=] The mutation in the TNFSF5 gene causes there to be no recognition of CD40 by CD40 ligand, and thus the T cells do not induce Ig class switching in B cells, so there are markedly reduced levels of IgG, IgA, and IgE, but have normal or elevated levels of IgM. CD40 ligand is also required in the functional maturation of T lymphocytes and macrophages, so patients with this disorder have a variable defect in T-lymphocyte and macrophage effector function, as well as hyper IgM. ]
Immunodeficiency with hyper IgM type 2 is caused by a mutation in the Activation-Induced Cysteine Deaminase (
AICDA) gene, which is located on the short arm of chromosome 12. The protein that is encoded by this gene is called Activation-Induced Cysteine Deaminase (AICDA) and functions as an RNA-editing deaminase that induces somatic hypermutation, class switch recombination, and immunoglobulin gene conversion in B cells.cite journal |author=Noguchi E, Shibasaki M, Inudou M, "et al" |title=Association between a new polymorphism in the activation-induced cytidine deaminase gene and atopic asthma and the regulation of total serum IgE levels |journal=J. Allergy Clin. Immunol. |volume=108 |issue=3 |pages=382–6 |year=2001 |pmid=11544457 |doi=10.1067/mai.2001.117456 |url=http://linkinghub.elsevier.com/retrieve/pii/S0091-6749(01)01611-6] When a person is homozygous for the mutation in the AICDA gene, the protein fails to function, and thus somatic hypermutation, class switch recombination, and immunoglobulin gene conversion cannot occur, which creates an excess of IgM.
Immunodeficiency with hyper IgM type 3 is caused by a mutation in the gene that codes for
CD40. As mentioned above, CD40 is expressed on the surface of B cells, and its binding to CD40 ligand on activated T cells induces Ig class switching. ] When the mutation is present, there is no signal for B cells to undergo class switching, so there is an excess of IgM and little to no other immunoglobulin types produced.
Immunodeficiency with hyper IgM type 4 is poorly characterized. All that is known is that there is an excess of IgM in the blood, with normal levels of the other immunoglobulins. The exact cause is yet to be determine.
Immunodeficiency with hyper IgM type 5 is caused by a mutation in the Uracil DNA Glycosylase (
UNG) gene, which, like AICDA, is located on chromosome 12. This codes for Uracil DNA Glycosylase, which is responsible for excising previous uracil bases that are due to cytosine deamination, or previous uracil misincorporation from double-stranded previous DNA substrates. This enzyme is also responsible for helping with gene conversion during somatic recombination in B cells. The mutation in the gene causes an enzyme that does not function properly, thus gene conversion does not proceed and class switching cannot occur.
Monoclonal gammopathy of undetermined significance
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