121:) gene, which codes for CD40 ligand. This gene is located on the long arm of the X chromosome at position 26, denoted Xq26. 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. 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.
133:) gene, which is located on the short arm of chromosome 12. The protein that is encoded by this gene is called Activation-Induced Cytidine Deaminase (AICDA) and functions as a DNA-editing deaminase that induces somatic hypermutation, class switch recombination, and immunoglobulin gene conversion in B cells. 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.
170:(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.
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Most hypergammaglobulinemias are caused by an excess of immunoglobulin M (IgM), because this is the default immunoglobulin type prior to class switching. Some types of hypergammaglobulinemia are actually caused by a deficiency in the other major types of immunoglobulins, which are
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Hypergammaglobulinemia is a condition that is characterized by the increased levels of a certain immunoglobulin in the blood serum. The name of the disorder refers to an excess of proteins after serum protein electrophoresis (found in the gammaglobulin region).
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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 determined.
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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
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Noguchi E, Shibasaki M, Inudou M, et al. (2001). "Association between a new polymorphism in the activation-induced cytidine deaminase gene and atopic asthma and the regulation of total serum IgE levels".
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Immunodeficiency with hyper IgM type 2 is caused by a mutation in the
Activation-Induced Cytidine Deaminase (
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Immunodeficiency with hyper IgM type 3 is caused by a mutation in the gene that codes for
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There are 5 types of hypergammaglobulinemias associated with hyper IgM.
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Immunodeficiency with hyper IgM type 5 is caused by a mutation in the
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180:Monoclonal gammopathy of undetermined significance
237:Park LC X-linked Immunodeficiency with hyper IgM
58:is a medical condition with elevated levels of
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16:Excess amounts of gamma globulin in the blood
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258:Lichtman, Andrew H.; Abbas, Abul K. (2003).
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262:(5th ed.). Philadelphia: Saunders.
225:Immunodeficiency with hyper IgM - 308230
108:, not a form of hypergammaglobulinemia.
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551:Lymphocytic immune system disorders
221:Online Mendelian Inheritance in Man
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260:Cellular and molecular immunology
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486:Waldenström macroglobulinemia
64:immunoproliferative disorder
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286:J. Allergy Clin. Immunol
298:10.1067/mai.2001.117456
522:hypergammaglobulinemia
202:. Accessed March 2007.
168:Uracil-DNA glycosylase
56:Hypergammaglobulinemia
25:Hypergammaglobulinemia
465:Plasma cell leukemia
106:dysgammaglobulinemia
510:Primary amyloidosis
498:Heavy chain disease
432:Immunoproliferative
147:Ig class switching
102:hyper IgM syndrome
62:. It is a type of
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482:Macroglobulinemia
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19:Medical condition
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530:Cryoglobulinemia
461:Multiple myeloma
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186:References
100:considers
40:hematology
36:Immunology
437:disorders
389:191396003
384:SNOMED CT
242:eMedicine
31:Specialty
545:Category
306:11544457
223:(OMIM):
174:See also
378:D006942
520:Other
367:289.89
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162:Type 5
153:Type 4
137:Type 3
125:Type 2
119:TNFSF5
112:Type 1
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352:D89.2
348:D89.0
131:AICDA
70:Types
471:MGUS
444:PCDs
373:MeSH
362:9-CM
302:PMID
264:ISBN
143:CD40
98:MeSH
87:and
477:IgM
358:ICD
339:ICD
294:doi
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240:at
89:IgG
85:IgE
81:IgA
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