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__NOTOC__ | __NOTOC__ | ||
{{SI}} | {{SI}} | ||
{{CMG}} | {{CMG}}{{AE}} {{STM}} | ||
{{SK}} Hyper IgM syndrome; Hyper IgD syndrome; Hyper IgE syndrome; HIES; Job syndrome; Buckley syndrome | |||
==[[Hypergammaglobulinemia overview|Overview]]== | |||
Hypergammaglobulinemia is a [[primary immunodeficiency]] disease with an elevated concentration of [[gamma globulin]]s ([[immunoglobulin]]s or [[antibodies]]).<ref name=kb>Hypergammaglobulinemia. Wikipedia. https://en.wikipedia.org/wiki/Hypergammaglobulinemia Accessed on February 24, 2016.</ref><ref>Globulin. Wikipedia. https://en.wikipedia.org/wiki/Globulin. Wikipedia. Accessed on February 24, 2016.</ref><ref>Primary immunodeficiency. Wikipedia. https://en.wikipedia.org/wiki/Primary_immunodeficiency Accessed on March 2, 2016.</ref> The term "hypergammaglobulinemia" refers to the position of the excess of proteins after [[serum protein electrophoresis]] (found in the [[gammaglobulin]] region).<ref name=kb>Hypergammaglobulinemia. Wikipedia. https://en.wikipedia.org/wiki/Hypergammaglobulinemia Accessed on February 24, 2016.</ref> The majority of hypergammaglobulinemias are due to an excess of [[immunoglobulin]] M ([[IgM]]) because this is the default [[immunoglobulin]] type prior to [[class switching]].<ref name=kb>Hypergammaglobulinemia. Wikipedia. https://en.wikipedia.org/wiki/Hypergammaglobulinemia Accessed on February 24, 2016.</ref> Hypergammaglobulinemias may also result from a deficiency in the other major types of [[immunoglobulin]]s ([[IgA]], [[IgE]], and [[IgG]]).<ref name=kb>Hypergammaglobulinemia. Wikipedia. https://en.wikipedia.org/wiki/Hypergammaglobulinemia Accessed on February 24, 2016.</ref><ref>Immunoproliferative disorder. Wikipedia. Accessed on February 24, 2016.</ref> | |||
==[[Hypergammaglobulinemia classification|Classification]]== | |||
*Hypergammaglobulinemia may be classified into the following: | |||
**[[Hyper IgM syndrome]]s | |||
**Hyper IgD syndrome | |||
**[[Hyper IgE syndrome]] | |||
*Hyper IgM associated hypergammaglobulinemias are further classified into the following five types:<ref>Hypergammaglobulinemia. Wikipedia. https://en.wikipedia.org/wiki/Hypergammaglobulinemia Accessed on February 24, 2016</ref><ref name=OMIM>Immunodeficiency with hyper-IgM, Type 1; HIGM1. http://www.omim.org/entry/308230. Accessed on February 24, 2016</ref> | |||
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! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Type}} | |||
! style="background: #4479BA; width: 370px;" | {{fontcolor|#FFF|Gene involved}} | |||
! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Mode of inheritance}} | |||
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Type 1 | |||
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*Tumor Necrosis Factor Super Family member 5 (''TNFSF5'') gene encoding CD40L | |||
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X-linked recessive | |||
|- | |||
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Type 2 | |||
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*Activation-Induced Cytidine Deaminase (''AICDA'') gene | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align=center | | |||
Autosomal recessive | |||
|- | |||
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" align=center| | |||
Type 3 | |||
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*''CD40'' gene | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align=center | | |||
Autosomal recessive | |||
|- | |||
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" align=center| | |||
Type 4 | |||
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*Not yet known | |||
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|- | |||
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" align=center| | |||
Type 5 | |||
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*Gene encoding Uracil-DNA glycosylase | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align=center | | |||
Autosomal recessive | |||
|} | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
==Related Chapters== | ==Related Chapters== | ||
* [[Monoclonal gammopathy of undetermined significance]] | *[[Monoclonal gammopathy of undetermined significance]] | ||
{{Immune disorders}} | {{Immune disorders}} | ||
[[Category:Rheumatology]] | [[Category:Rheumatology]] | ||
[[Category:Immunology]] | [[Category:Immunology]] | ||
{{WikiDoc Help Menu}} | {{WikiDoc Help Menu}} | ||
{{WikiDoc Sources}} | {{WikiDoc Sources}} | ||
Latest revision as of 21:08, 2 March 2016
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Soujanya Thummathati, MBBS [2]
Synonyms and keywords: Hyper IgM syndrome; Hyper IgD syndrome; Hyper IgE syndrome; HIES; Job syndrome; Buckley syndrome
Overview
Hypergammaglobulinemia is a primary immunodeficiency disease with an elevated concentration of gamma globulins (immunoglobulins or antibodies).[1][2][3] The term "hypergammaglobulinemia" refers to the position of the excess of proteins after serum protein electrophoresis (found in the gammaglobulin region).[1] The majority of hypergammaglobulinemias are due to an excess of immunoglobulin M (IgM) because this is the default immunoglobulin type prior to class switching.[1] Hypergammaglobulinemias may also result from a deficiency in the other major types of immunoglobulins (IgA, IgE, and IgG).[1][4]
Classification
- Hypergammaglobulinemia may be classified into the following:
- Hyper IgM syndromes
- Hyper IgD syndrome
- Hyper IgE syndrome
- Hyper IgM associated hypergammaglobulinemias are further classified into the following five types:[5][6]
| Type | Gene involved | Mode of inheritance |
|---|---|---|
|
Type 1 |
|
X-linked recessive |
|
Type 2 |
|
Autosomal recessive |
|
Type 3 |
|
Autosomal recessive |
|
Type 4 |
|
|
|
Type 5 |
|
Autosomal recessive |
References
- ↑ 1.0 1.1 1.2 1.3 Hypergammaglobulinemia. Wikipedia. https://en.wikipedia.org/wiki/Hypergammaglobulinemia Accessed on February 24, 2016.
- ↑ Globulin. Wikipedia. https://en.wikipedia.org/wiki/Globulin. Wikipedia. Accessed on February 24, 2016.
- ↑ Primary immunodeficiency. Wikipedia. https://en.wikipedia.org/wiki/Primary_immunodeficiency Accessed on March 2, 2016.
- ↑ Immunoproliferative disorder. Wikipedia. Accessed on February 24, 2016.
- ↑ Hypergammaglobulinemia. Wikipedia. https://en.wikipedia.org/wiki/Hypergammaglobulinemia Accessed on February 24, 2016
- ↑ Immunodeficiency with hyper-IgM, Type 1; HIGM1. http://www.omim.org/entry/308230. Accessed on February 24, 2016