Minegishi et al. (1999) reported a 2-year-old Turkish girl who presented with recurrent diarrhea and failure to thrive within the first month of life. She later developed bronchitis and neutropenia and was found to have agammaglobulinemia and almost ... Minegishi et al. (1999) reported a 2-year-old Turkish girl who presented with recurrent diarrhea and failure to thrive within 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. Further analysis of patient B cells indicated a block in B-cell differentiation at the pro-B to pre-B transition point, which was identical to that observed in a patient with IGHM deficiency (AGM1; 601495). Examination at age 2 years and 8 months showed absence of lymph nodes. Wang et al. (2002) reported an 8-year-old Turkish boy with AGM3. He was noted to have recurrent lower respiratory infections and otitis media at about 8 months of age. He was found to have profound hypogammaglobulinemia and almost undetectable B cells, but normal T cells. He had muscle weakness and developed thickening of the skin consistent with dermatomyositis. Treatment with intravenous immunoglobulin (IV Ig) resulted in some clinical improvement, but he died of a pulmonary infection. Family history revealed that 2 older brothers had died of pulmonary infections at age 8 months.
In a 2-year-old Turkish girl with agammaglobulinemia-3, Minegishi et al. (1999) identified a homozygous mutation in the CD79A gene (112205.0001). The findings indicated that CD79A plays an important role in B-cell development.
In an 8-year-old Turkish ... In a 2-year-old Turkish girl with agammaglobulinemia-3, Minegishi et al. (1999) identified a homozygous mutation in the CD79A gene (112205.0001). The findings indicated that CD79A plays an important role in B-cell development. In an 8-year-old Turkish boy with agammaglobulinemia-3, Wang et al. (2002) identified a homozygous mutation in the CD79A gene (112205.0002).