Undetected carrier state in chronic granulomatous disease

Dupree, Elton; Smith, C. Wayne; MacDougall, Nora L. Taylor; Long, Walter K.; Goldman, Armond S.

doi:10.1016/s0022-3476(72)80100-8

Cited by 12 publications

(6 citation statements)

References 21 publications

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“…The patient is a 13-yr-old boy previously reported as a child with Serratia marcescens osteomyelitis (5) and as a CGD patient with typically defective latex-stimulated NBT reduction and bacterial killing, but no detectable carrier state in his mother and sisters (6). We confirmed these findings with more sensitive phorbol myristate acetate (PMA) and opsonized zymosan-stimulated NBT slide tests (7,8) and cytochrome c reduction (9) assays.…”

Section: Methodssupporting

confidence: 72%

Chronic granulomatous disease. Expression of the metabolic defect by in vitro culture of bone marrow progenitors.

Newburger¹,

Kruskall²,

Rappeport³

et al. 1980

J. Clin. Invest.

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A B S T R A C T Chronic granulomatous disease (CGD), an often fatal syndrome of recurrent infections, results from the inability of patients' peripheral blood phagocytic leukocytes to generate superoxide despite otherwise normal phagocytic functions such as ingestion and degranulation. Circulating granulocytes and monocytes are the progeny of bone marrow progenitor cells, colony-forming units in culture. We compared the function of cells grown in two different in vitro culture systems from the bone marrow of a CGD patient with those from normal subjects. The cells ofnormal colonyforming unit in culture colonies grown in semisolid medium reduced nitroblue tetrazolium dye when stimulated by phorbol myristate acetate; none of the cells from colonies derived from CGD marrow did so. Cells grown in liquid suspension culture from normal marrow generated superoxide nearly as well as normal peripheral blood granulocytes; those from CGD marrow produced no superoxide. Similarly cultured cells from both normal and CGD marrow ingested opsonized bacteria at rates equal to peripheral blood granulocytes. CGD marrow-derived cells showed increased exocytic degranulation relative to both normal marrow-derived cells and normal peripheral blood granulocytes. These studies demonstrate that the basic

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Section: Methodssupporting

confidence: 72%

Chronic granulomatous disease. Expression of the metabolic defect by in vitro culture of bone marrow progenitors.

Newburger¹,

Kruskall²,

Rappeport³

et al. 1980

J. Clin. Invest.

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“…The mode of genetic transmittance of CGD is not yet clear (1, 3,4,14,18). This family is the first one to be reported having both an affected male and an affected female member, throwing new light on the question of the mode of inheritance of CGD.…”

mentioning

confidence: 95%

“…T. A. M. is one of the few "carrier females" reported displaying possible clinical manifestations of CGD. This is also the first family described to have both a male and a female CGD patient, although this situation has been anticipated on theoretical grounds (3,4). Several modes of inheritance have been proposed: X-linked recessive (18), partially sex-linked recessive (14), autosomal recessive with sex modification (3) or auto-soma1 dominant with variable expressivity (1).…”

mentioning

confidence: 99%

Presumed Disseminated BCG in a Boy With Chronic Granulomatous Disease of Childhood

Verronen

1974

Acta Paediatrica

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ABSTRACT. Verronen, P. (Department of Paediatdcs, Central Hospital, Tampere, Finland). Presumed disseminated BCG in a boy with chronic granulomatous disease of childhood. Acta Paediatr Scand 63: 627, 1974.—A male. child suffering from chronic granulomatous disease of childhood, confirmed by a Irucocyte bactericidal function test and a nitrobluc tetrazolium test, was given a BCG inoaulatlon in the neonatal pcrfod. He had draining lesions at the sites of vaccination and later miliary infiltration of the lungs, which responded favourably to antituberoulous therapy. Cultures for tb‐bacilli were negative. An older sister is suspected to be a carrier of the trait responsible for chronlc granulomatous disease. Her sole clinlcal manifestation was miliary infiltration of the lungs at the age of 3 9/12 years.

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“…The male to female ratio in this disease of seven to one (2) also suggests x-linked transmission. On the other hand, chronic granulomatous disease in females (26)(27)(28)(29)(30)(31)(32)(33)(34)(35) and in some boys without demonstrable leukocyte defects in either parent (36)(37)(38) has suggested another mode of inheritance.…”

Section: Introductionmentioning

confidence: 99%