Recurrent Bacterial Infections in Four Siblings with Neutropenia, Eosinophilia, Hyperimmunoglobulinemia A, and Defective Neutrophil Chemotaxis

Björkstén, Bengt; Lundmark, K. M.

doi:10.1093/infdis/133.1.63

Cited by 30 publications

(12 citation statements)

References 16 publications

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“…Given the normal NBT activity of the blood and crevicular cells as measured by the parameters of this study, including the potential for a stimulation response to NBT, the assumption that the advanced tissue destruction is a result of a quantitative defect in neutrophii production is supported. Bjorksten & Lundmark (1976) demonstrated a normal NBT response by a reduced number of neutrophils in a family suffering from combined immunological defects, including a disorder of neutrophii maturation and chemotaxis. Gingival leucocytes from subject I.S.…”

Section: Discussionmentioning

confidence: 99%

Functional integrity of gingival crevicular neutrophil polymorphonuclear leucocytes as demonstrated by nitroblue tetrazolium reduction

Kowolik

Raeburn

1980

J of Periodontal Research

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Gingival crevicular neutrophils were collected from 20 healthy subjects and their ability to reduce nitroblue tetrazolium was investigated by means of a semi‐quantitative histochemical test. 78.04 % (± s.e.m. 0.8 %) of the cells were vital. 42.9 % (± s.e.m. 3.3 %) of the crevice neutrophils were NBT positive as compared to 5.6% (± s.e.m. 0.89%) of unstimulated peripheral venous blood neutrophils from the same patients (p < 0.001). No difference between male and female was found. The results indicate a stimulation of crevicular neutrophils by bacteria. Furthermore, a slight correlation between blood and crevicular neutrophil activity in each individual was found, suggesting that even in the normal state some antigen or other bacterial product in the circulation is capable of stimulating the neutrophils. One patient with hereditary cyclical neutropenia, shown to have a greatly reduced number of crevicular cells, had normal activity of both blood and crevicular neutrophils as measured by this test. These findings, compatible with known immunological results, are compared with the neutrophil function test results in this patient and two other neutropenic subjects. This study supports the view that the gingival crevicular neutrophil is a functional cell capable of contributing towards host defense.

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Section: Discussionmentioning

confidence: 99%

Functional integrity of gingival crevicular neutrophil polymorphonuclear leucocytes as demonstrated by nitroblue tetrazolium reduction

Kowolik

Raeburn

1980

J of Periodontal Research

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“…Already in 1976 a report describing four siblings with repeated bacterial infections, neutropenia and neutrophil chemotactic defects, as well as increased IgA levels and poor antibody response to vaccinations was published [15] . At that time-point all affected siblings were alive, but only one has survived to adult age.…”

Section: Introductionmentioning

confidence: 99%

Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 ( PGM3 ) gene

Lundin

Hamasy

Backe

et al. 2015

Clinical Immunology

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Phosphoglucomutase 3 (PGM3) is an enzyme converting N-acetyl-glucosamine-6-phosphate to N-acetyl-glucosamine-1-phosphate, a precursor important for glycosylation. Mutations in the PGM3 gene have recently been identified as the cause of novel primary immunodeficiency with a hyper-IgE like syndrome. Here we report the occurrence of a homozygous mutation in the PGM3 gene in a family with immunodeficient children, described already in 1976. DNA from two of the immunodeficient siblings was sequenced and shown to encode the same homozygous missense mutation, causing a destabilized protein with reduced enzymatic capacity. Affected individuals were highly prone to infections, but lack the developmental defects in the nervous and skeletal systems, reported in other families. Moreover, normal IgE levels were found. Thus, belonging to the expanding group of congenital glycosylation defects, PGM3 deficiency is characterized by immunodeficiency, with or without increased IgE levels, and with variable forms of developmental defects affecting other organ systems.

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“…Bj6rksten and Lundmark [12] reported defective neutrophil chemotaxis and recurrent infection in four siblings with increased levels of circulating IgA. All of the patients had recurrent pneumonia in addition to recurrent skin infections, otitis media and staphylococcal abscesses.…”

Section: Disorders Of Locomotionmentioning

confidence: 95%

Phagocytic defects

Quie

Mills

McPhail

et al. 1978

Springer Semin Immunopathol

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Recurrent Bacterial Infections in Four Siblings with Neutropenia, Eosinophilia, Hyperimmunoglobulinemia A, and Defective Neutrophil Chemotaxis

Cited by 30 publications

References 16 publications

Functional integrity of gingival crevicular neutrophil polymorphonuclear leucocytes as demonstrated by nitroblue tetrazolium reduction

Functional integrity of gingival crevicular neutrophil polymorphonuclear leucocytes as demonstrated by nitroblue tetrazolium reduction

Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 ( PGM3 ) gene

Phagocytic defects

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