A 3-year-old boy was admitted with a diagnosis of liver abscess after ultrasound examination. He had been ill with many infections since the age of 1 month. Types of infections included recurrent episodes of pneumonia and ear infection, perirectal abscess, osteomyelitis of the metacarpal bones, suppurative lymphadenitis, and mastoiditis. Organisms that were recovered from these sites of infection included Staphylococcus aureus and Aspergillus. Despite these episodes of infection, he experienced normal growth and development. The family medical history was remarkable in that an older brother and a cousin (a son of a maternal aunt) had suffered similar chronic infections, and one had died of chronic pneumonia caused by a gram-positive organism. On physical examination, the boy appeared to be generally well. The skin was covered with scattered areas of crusted scabs describe as an infected eczematoid rash. A Gram stain of the rash revealed gram-positive cocci in clusters (Staphylococcus). Lymph nodes and liver were enlarged.
The hemoglobin level was 9g/dL; the erythrocyte morphology was normal with slight hypochromia. The total WBC count was 3.0 X 109/L (28.0 X 109/L neutrophils). The neutrophils contained moderate toxic granulation and vacuoles. The platelet count was 427 X 109/L. Concentrations of serum immunoglobulins and complement components were all moderately increased. Neutrophilia was consistently found on several occasions on retrospective review of previous laboratory data. Neutropenia was never documented. Studies of neutrophilic migration and phagocytosis were normal. Oxidative metabolism in response to neutrophilic stimulation was completely absent. Specifically, there was no post-phagocytic increase in oxygen consumption, and superoxide anion and hydrogen peroxide were not formed. Finally, neutrophils were unable to oxidize and kill Staphylococcus that had been phagocytized. Neutrophils from the mother were analyzed and performed at about 50% of normal capacity.
Research and Discuss the suspected diagnosis:
Include etiology, epidemiology, diagnosis, treatment, and prognosis.