SCIENTIFIC BACKGROUND

BLNK, BTK, CD79A, CD79B, IGHM, IGLL1, LRRC8A, PIK3R1

Category:

Congenital agammaglobulinemia is characterized by severely reduced or absent serum antibodies and severely reduced or absent circulating B cells, caused by an early maturation disorder of the B cells. Those affected develop severe, recurrent bacterial infections in the first years of life. A serious and not uncommon complication is enteroviral meningoencephalitis.

 

The only treatment currently available is intravenous or subcutaneous substitution of immunoglobulins.

 

The most common form of agammaglobulinemia is X-linked agammaglobulinemia (Bruton type), which is caused by mutations in the BTK gene and is present in about 85-95% of male patients. The rare autosomal inherited agammaglobulinemias can hardly be distinguished from the X-linked form by clinical symptoms and contribute to up to 15% of patients with agammaglobulinemia. Due to their genetic heterogeneity, analysis by NGS may be useful.

 

References

Bousfiha et al. 2018, J Clin Immunol 38:129 / Picard et al. 2018, J Clin Immunol 38:96 / Smith et al. 2016, GeneReviews® [Internet], https://www.ncbi.nlm.nih.gov/books/NBK1453/ / Al-Herz et al. 2014, Front Immunol 5:162 / Bousfiha et al. 2013, J Clin Immunol 33:1078 / Conley 2009, Curr Opin Immunol 21:466 / Conley et al. 2005, Immunol Rev 203:216 / Conley et al. 1992, J Clin Immunol 12:139

 

GENES

BLNK, BTK, CD79A, CD79B, IGHM, IGLL1, LRRC8A, PIK3R1

ASSOCIATED TESTS

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