Agammaglobulinemia 3, mutation in CD79AD84.8

Autosomal recessive agammaglobulinemia 3, is caused by a homozygous mutation in the CD79A gene (112205) on chromosome 19q13.2.

Autosomal recessive agammaglobulinemia 3, is caused by a homozygous mutation in the CD79A gene (112205) on chromosome 19q13.2.

Minegishi et al (1999) reported on a 2-year-old Turkish girl who suffered from recurrent diarrhea and failure to thrive during the first month of life. She later developed bronchitis and neutropenia, and was found to have agammaglobulinemia and almost undetectable CD19+ B cells in the peripheral circulation, although T cells and natural killer (NK) cells were normal. Detectable was a homozygous mutation in the CD79A gene (112205.0001). CD79A plays an important role in B cell development .

Wang et al (2002) reported an 8-year-old Turkish boy with AGM3 (CD79A mutation). He was diagnosed with recurrent lower respiratory tract infections and otitis media at about 8 months of age. He was found to have marked hypogammaglobulinemia and almost undetectable B cells but normal T cells. He Suffered from myopathy and signs of dermatomyositis. Treatment with intravenous immunoglobulin (IV Ig) resulted in some clinical improvement, but he died of pulmonary infection. Family history revealed that 2 older brothers had died of pulmonary infection at 8 months of age.

1. Chu PG et al (2001) CD79: a review. Appl Immunohistochem Mol Morphol 9: 97-106.
2. Minegishi Y et al (1999) Mutations in Ig-alpha (CD79a) result in a complete block in B-cell development. J Clin Invest 104: 1115-1121.
3. Wang Y et al (2002) Novel Ig-alpha (CD79a) gene mutation in a Turkish patient with B cell-deficient agammaglobulinemia. Am J Med Genet 108: 333-336.