Agammaglobulinaemia

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Agammaglobulinaemia (synonyms: hypo-γ-globulinemia , γ-globulin deficiency disease and antibody deficiency syndrome) is an X-linked immunodeficiency (with constant readiness for infection) in which the B lymphocytes cannot fully develop due to a genetic defect. The consequence is the absence of B-lymphocyte receptors, which makes the body incapable of an immune response to bacterial infections.

Agammaglobulinaemia in humans

A distinction is made between different forms of agammaglobulinemia. All forms are characterized by an immunodeficiency in the form of a lack of antibodies. Depending on the underlying mutation and inheritance, a distinction is made:

  • AGMX1 (agammaglobulinemia, X-LINKED; XLA; Bruton's syndrome ; agammaglobulinemia type Bruton; AGMX1 IMMUNODEFICIENCY 1; IMD1), X-linked recessive, occurs in newborns, mutations in the BTK gene at locus Xq22.1
  • AGM1 (agammaglobulinemia type 1, autosomal recessive), autosomal recessive , mutations in the IGHM gene at 14q32.33
  • AGM2 (agammaglobulinaemia type 2, autosomal recessive), autosomal recessive, mutations in the IGLL1 gene at 22q11.23
  • AGM3 (agammaglobulinaemia type 3, autosomal recessive), autosomal recessive, mutations in the CD79A gene at 19q13.2
  • AGM4 (agammaglobulinemia type 4, autosomal recessive), autosomal recessive, mutations in the BLNK gene at 10q24.1
  • AGM5 (agammaglobulinemia type 5, autosomal dominant), autosomal dominant inheritance , mutations in the LRRC8A gene at 9q34.11
  • AGM6 (agammaglobulinaemia type 6, autosomal recessive), autosomal recessive, mutations in the CD79B gene at 17q23.3
  • The secondary agammaglobulinemia , as a result of a general severe protein deficiency occurs or under a severe combined immunodeficiency is acquired in contrast to the first two and not inherited.

Agammaglobulinaemia in Pets

Horses: In Arabian foals , agammaglobulinaemia can occur due to an autosomal recessive inherited combined immunodeficiency (SCID). Both the globulin-producing B lymphocytes and the T lymphocytes responsible for the cellular defense are missing . So far, three horses have been observed worldwide that had agammaglobulinaemia as a result of a selective absence of B lymphocytes.

Dogs : So far, one isolated case of combined immunodeficiency has been reported thatoccurredin a family of Basset dogs . A more severe form of combined immunodeficiency also occurs in Jack Russell terriers .

Individual evidence

  1. ↑ Ludwig Heilmeyer , Herbert Begemann: Blood and blood diseases. In: Ludwig Heilmeyer (ed.): Textbook of internal medicine. Springer-Verlag, Berlin / Göttingen / Heidelberg 1955; 2nd edition ibid. 1961, pp. 376–449, here: p. 449 ( Agamma-Globulinemia […] ).
  2. ↑ Agammaglobulinemia, X-linked 1.  In: Online Mendelian Inheritance in Man . (English)
  3. ↑ Agammaglobulinemia 1.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ Agammaglobulinemia 2.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ Agammaglobulinemia 3.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ Agammaglobulinemia 4.  In: Online Mendelian Inheritance in Man . (English)
  7. ^ Agammaglobulinemia 5th  In: Online Mendelian Inheritance in Man . (English)
  8. ↑ Agammaglobulinemia 6.  In: Online Mendelian Inheritance in Man . (English)

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