Hypergammaglobulinemia

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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 associated hypergammaglobulinemias are further classified into the following five types:[5][6]
Type Gene involved Mode of inheritance

Type 1

  • Tumor Necrosis Factor Super Family member 5 (TNFSF5) gene encoding CD40L

X-linked recessive

Type 2

  • Activation-Induced Cytidine Deaminase (AICDA) gene

Autosomal recessive

Type 3

  • CD40 gene

Autosomal recessive

Type 4

  • Not yet known

Type 5

  • Gene encoding Uracil-DNA glycosylase

Autosomal recessive

References

  1. 1.0 1.1 1.2 1.3 Hypergammaglobulinemia. Wikipedia. https://en.wikipedia.org/wiki/Hypergammaglobulinemia Accessed on February 24, 2016.
  2. Globulin. Wikipedia. https://en.wikipedia.org/wiki/Globulin. Wikipedia. Accessed on February 24, 2016.
  3. Primary immunodeficiency. Wikipedia. https://en.wikipedia.org/wiki/Primary_immunodeficiency Accessed on March 2, 2016.
  4. Immunoproliferative disorder. Wikipedia. Accessed on February 24, 2016.
  5. Hypergammaglobulinemia. Wikipedia. https://en.wikipedia.org/wiki/Hypergammaglobulinemia Accessed on February 24, 2016
  6. Immunodeficiency with hyper-IgM, Type 1; HIGM1. http://www.omim.org/entry/308230. Accessed on February 24, 2016

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