Minegishi et al. (1998) reported a boy with agammaglobulinemia and markedly reduced numbers of B cells. He had onset of recurrent otitis at 2 months of age and was found to have hypogammaglobulinemia and absent B cells at ... Minegishi et al. (1998) reported a boy with agammaglobulinemia and markedly reduced numbers of B cells. He had onset of recurrent otitis at 2 months of age and was found to have hypogammaglobulinemia and absent B cells at 3 years of age when he developed Hemophilus meningitis complicated by arthritis. Laboratory studies at that time showed he was seronegative for the T cell-dependent antigens tetanus toxoid, diphtheria toxoid, and conjugated Hemophilus influenza, despite previous immunization. He also failed to make antibody to the T cell-independent antigens in blood group substances. He had never had detectable CD19+ B cells by routine clinical testing. At 5 years of age, while receiving gammaglobulin replacement therapy, he had no measurable serum IgM and IgA. However, he had normal numbers of T cells and normal proliferative responses to mitogens.
In a boy with agammaglobulinemia and markedly reduced numbers of B cells, Minegishi et al. (1998) identified compound heterozygosity for 2 mutations in the IGLL1 gene (146770.0001; 146770.0002).