Hypergammaglobulinemia

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Soujanya Thummathati, MBBS [2]

Synonyms and keywords:

Overview

Hypergammaglobulinemia is a primary immunodeficiency disease with an elevated concentration of gamma globulins (immunoglobulins or antibodies). The term "hypergammaglobulinemia" refers to the position of the excess of proteins after serum protein electrophoresis (found in the gammaglobulin region). The majority of hypergammaglobulinemias are due to an excess of immunoglobulin M (IgM) because this is the default immunoglobulin type prior to class switching. Hypergammaglobulinemias may also result from a deficiency in the other major types of immunoglobulins (IgA, IgE, and IgG).

Classification

• Hypergammaglobulinemia may be classified into the following:
  • Hyper Ig M associated hypergammaglobulinemias
  • Hyper Ig D syndrome
  • Hyper Ig E syndrome
• Hyper IgM associated hypergammaglobulinemias are further classified into the following five types:

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

Related Chapters

• Monoclonal gammopathy of undetermined significance