Sex-linked agammaglobulinemia (Bruton's disease). A case report.
X-linked agammaglobulinemia (Bruton's disease) is a rare disease characterized by marked decrease in all classes of immunoglobulins and absence of circulating B cells and plasma cells. The affected boys frequently present with recurrent respiratory tract infections after 6 months to 2 years of age. A combination regimen of intravenous human immunoglobulins and strong parenteral antibiotics remains the stone of treatment. Herein we report a one year and ten months old boy with Bruton's disease. He has had repeated infections of upper and lower respiratory tract since 6 months of age. Immunological studies revealed panhypogammaglobulinemia, nearly total absence of circulating B cells, negative isohemagglutinins and reversed CD4/CD8 ratio. Pedigree analysis suggests a sex-linked recessive inheritance. Intravenous immunoglobulins as well as parenteral antibiotics were administered to overcome pneumonia and purulent otitis media. He is currently undergoing co-trimethoxazole prophylaxis and periodic intravenous immunoglobulins infusion.
Chung
J L
JL
Department of Pediatrics, Chang Gung Memorial Hospital, Taipei, Taiwan, R.O.C.
Huang
J L
JL
Hung
I J
IJ
D000361:Agammaglobulinemia / Q000235:genetics* / Q000276:immunology / Q000628:therapy; D001402:B-Lymphocytes / Q000276:immunology*; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008297:Male; D012730:Sex Chromosomes