A Case of X-Linked Agammaglobulinemia Associated with Severe Neutropenia / 소아알레르기및호흡기학회지

ABSTRACT

X-linked agammaglobulinemia(XLA) is characterized by markedly reduced number of B lymphocytes, panhypogammaglobulinemia, recurrent bacterial infections in the first few years of life because of genetic defect for Bruton's tyrosine kinase at Xq22 region. Although XLA is a typical humoral immunodeficiency disease, severe neutropenia is sometimes presented in acute infection phase. We report a 23-month-boy with XLA who presented prolonged pneumonia, severe neutropenia over one month and profound panhypogammaglobulinemia. As his pneumonia improved, neutropenia subsided, but panhypogammaglobulinemia sustained. He was confirmed to have a point mutation in Btk-gene by direct-sequencing of Btk-gene.