The NBT slide test: A simple screening method for detecting chronic granulomatous disease and female carriers

Ochs, Hans D.; Igo, Robert P.

doi:10.1016/s0022-3476(73)80316-6

Cited by 145 publications

(44 citation statements)

References 15 publications

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“…Patients K.S., K.K., and C.B. were found to have a complete absence of reduction of nitroblue tetrazolium by nitroblue tetrazolium slide test (24) and an absence of p47-phox from the cytosol of PMNs by immunoblot.…”

Section: Introductionmentioning

confidence: 94%

In vitro molecular reconstitution of the respiratory burst in B lymphoblasts from p47-phox-deficient chronic granulomatous disease.

Volpp¹,

Lin²

1993

J. Clin. Invest.

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Epstein-Barr virus-transformed lymphocytes generate superoxide in response to various agonists in an enzymatic reaction similar to that which occurs in stimulated phagocytes. We generated transformed B lymphoblast cell lines from controls, from four patients with p47-phox-deficient chronic granulomatous disease, and from three parents. The cells from controls and from the parents generated 7.0-35 nmol of O°/107 cells per 30 min in response to phorbol myristate acetate. None of the patient cell lines generated any detectable superoxide. Both p47-phox and p67-phox were detected by immunoblot in the cytosol of control and parent cell lines and, as in neutrophils, these proteins had affinity for GTP-agarose. The patients' cell lines contained no detectable p47-phox by immunoblot. mRNA for both cytosolic proteins was detected in all cell lines. We generated cDNA and obtained multiple clones from two patients by polymerase chain reaction. One patient was a compound heterozygote with each allele resulting in an early stop codon. Clones derived from the other patient demonstrated only a GT deletion at base 75. The cDNA for p47-phox was inserted into an EBV-expression vector and stably transfected cell lines were obtained using hygromycin B selection. Transfected cell lines from a p47-phox-deficient patient generated normal levels of superoxide and had readily detectable cytosolic p47-phox. Thus, B lymphoblasts provide an excellent model system for studies of the NADPH oxidase, for expression of functional recombinant forms ofoxidase components, and for initial experimental approaches to genetic reconstitution in CGD. (J. Clin. Invest. 1993.91:201-207.)

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Section: Introductionmentioning

confidence: 94%

In vitro molecular reconstitution of the respiratory burst in B lymphoblasts from p47-phox-deficient chronic granulomatous disease.

Volpp¹,

Lin²

1993

J. Clin. Invest.

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“…7 The NBT test on slides is an extremely useful method for CGD diagnosis, and also allows carriers of the defect (mothers, sisters) in X-CDG cases. 8 This study presents a clinical, biochemical and molecular analysis of two siblings with autosomal recessive CGD due to a p47-phox defect.…”

Section: Introductionmentioning

confidence: 99%

Doença granulomatosa crônica autossômica: relato de caso e análise genético-molecular de dois irmãos brasileiros

Prando-Andrade¹,

Agudelo‐Flórez²,

López³

et al. 2004

J. Pediatr. (Rio J.)

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Objective: To report the case of two siblings with chronic granulomatous disease. Chronic granulomatous disease is a primary immunodeficiency disorder characterized by abnormal microbicidal activity. Mutations in the p47-phox gene (NCF-1) are present in about 30% of the patients with chronic granulomatous disease; this group presents a better prognosis and later onset of recurrent infections as compared with the X-linked variant, present in about 56% of patients.Description: Case 1 is a female presenting repeat infections since age 10, starting with impetigo followed by severe pneumonia six months later. The severity of the lung infection associated with liver abscess and the patient s resistance to treatment prompted laboratory investigation for immunodeficiency. The results of the nitroblue tetrazolium and superoxide release tests were consistent with a diagnosis of chronic granulomatous disease. The parents and siblings were assessed, revealing the presence of granulomatous disease in a brother (Case 2). He also presented repeat infections with impetigo at age 10, followed by pneumonia six months later, however in a non severe form. Single-strand conformational polymorphism analysis detected abnormal electrophoretic mobility of exon 2 of the NCF-1 gene. Sequence DNA analysis revealed a dinucleotide GT deletion in exon 2.Comments: It is important to evaluate the relatives of chronic granulomatous disease patients, even in the absence of typical clinical signs. Defining the mutation and its correlation with phenotype is important to provide appropriate genetic counseling and clinical prognosis.

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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%

X-linked Inheritance in Females with Chronic Granulomatous Disease

Mills¹,

Rholl²,

Quie³

1980

J. Clin. Invest.

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The NBT slide test: A simple screening method for detecting chronic granulomatous disease and female carriers

Cited by 145 publications

References 15 publications

In vitro molecular reconstitution of the respiratory burst in B lymphoblasts from p47-phox-deficient chronic granulomatous disease.

In vitro molecular reconstitution of the respiratory burst in B lymphoblasts from p47-phox-deficient chronic granulomatous disease.

Doença granulomatosa crônica autossômica: relato de caso e análise genético-molecular de dois irmãos brasileiros

X-linked Inheritance in Females with Chronic Granulomatous Disease

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