X-linked chronic granulomatous disease: report of one case.
Chronic granulomatous disease (CGD) is an inherited dysfunction of phagocytic cells secondary to a defect in the respiratory burst to kill catalase-positive microorganisms. This leads to recurrent life-threatening bacterial and fungal infections. We report a 1 year-10 month-old boy with X-linked CGD who was noted to have recurrent suppurative lymphadenitis since one and half month old. Failure to thrive, lymphadenitis and generalized skin lesions with multiple scar and dimples were found. Immunological data of patient, his mother and father were as follows: PMN phagocytosis (%): 98, 88, 92 (control, >80), PMN chemotaxis: 0.6, 1.0, 1.3 (control, >1.2), PMN bactericidal function test over a period of 2 hours (%): 28.1, 28.5, 84.8 (control, 82.1). PMN chemiluminescence (delta mV): 0.612, 364.1, 1131 (control, 614.1), H202 production (ug/mL): 1.6, 7.2, 16.8 (control, 14.1), NBT test: negative, mixed, positive (control, positive). His mother was a carrier. The patient expired with invasive salmonella infection before the availability of gamma-interferon prophylaxis.
Weng
Jyh-Der
JD
Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
Shyur
Shyh-Dar
SD
D005192:Family Health; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D007223:Infant; D007371:Interferon-gamma / Q000627:therapeutic use; D008297:Male; D012008:Recurrence; D012867:Skin / Q000473:pathology
D007371:Interferon-gamma