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1/5. Chronic granulomatous disease of childhood.

    Two boys and one girl suffering from recurrent severe bacterial infections were investigated. All 3 exhibited normal cellular and humoral immunity, normal neutrophil phagocytic ability, and defective neutrophil bacterial capacity. The clinical features and laboratory findings in these patients are diagnostic of chronic granulomatous disease. A sex-linked inheritance pattern was confirmed in 1 patient by the demonstration of a heterozygous carrier state in the mother.
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2/5. Chronic granulomatous disease: an inherited disorder of phagocytosis in a Maori ancestry.

    Chronic granulomatous disease, in which abnormal susceptibility to infection is caused by an inherited defect in phagocytic cells, has been diagnosed in three brothers. Two brothers had repeated bacterial infections of the skin, superficial lymph nodes and lungs from infancy and died aged 27 months and 13 months. Characteristic suppurating granulomata were found in many organs. The diagnosis was established in both during life, and in the third asymptomatic brother shortly after birth, by studies of phagocytic function which included tests for nitroblue-tetrazolium reduction, hexose monophosphate shunt activity and bactericidal capacity. Their mother and a maternal aunt, both Maoris with no known Caucasian ancestry, were identified as carriers of the presumed sex-linked recessive gene. The clinical features of the disease and the laboratory methods for diagnosis are described.
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3/5. Neutrophil dysfunction and granulomatosis in the preleukemic state.

    A 40-year-old male had periods of fever, sore throat and anemia for 14 months before acute myeloblastic leukemia could be diagnosed from hematological findings. During the preleukemic state, impaired bactericidal capacity of the granulocytes was repeatedly demonstrated and multiple hepatosplenic and skin granulomas occurred. Results of granulocyte function studies may prove to be of significant aid in the diagnosis of the preleukemic state of acute myeloblastic leukemia.
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4/5. Chronic granulomatous disease in an adult male: A proposed X-linked defect.

    A 25-year old patient with chronic granulomatous disease of somewhat unusual history is described. The diagnosis of CGD was based on increased susceptibility to infection, granulomatous appearance of tissues, and diminished bactericidal and metabolic response of leukocytes during phagocytosis: the clinical and cellular features considered phenotypic of CGD. A 16-year-old female sibling had bactericidal and metabolic abnormalities of leukocyte function similar to those of the patient's leukocytes. leukocytes from another sister, 26 years of age, were intermediate in bactericidal capacity. Two populations of leukocytes were identified by a histochemical test of NBT reduction. Both normal and abnormal polymorphonuclear leukocytes were present in the leukocyte population of the two sisters. leukocytes from the patient's mother and maternal grandmother were normal by all methods tested. These findings are taken as evidence of a germ-line mutation in the chromosomal gene causing CGD, with transmission of the genetic defect from the mother to the son.
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5/5. pyoderma gangrenosum associated with regional enteritis. Improvement in defective granulocyte function and healing of skin lesions during administration of clofazimine.

    A defective uptake of oxygen by peripheral blood granulocytes during phagocytosis, indicating a subnormal phagocytic capacity, has been found in a patient with regional enteritis complicated by pyoderma gangrenosum (PG). During administration of clofazimine and granulocyte function normalized and the skin lesions healed. It is possible that a defective granulocyte function may sometimes be involved in the pathogenesis of PG and that a clofazimine-induced improvement in the function will favour healing of the lesions. The result of treatment in our patient and in other cases recently published indicates that the drug may be worth trying in PG.
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