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Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Het...

Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Het...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1999199982

Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A)

About this item

Full title

Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A)

Publisher

New York: Springer US

Journal title

Journal of clinical immunology, 2018-02, Vol.38 (2), p.193-203

Language

English

Formats

Publication information

Publisher

New York: Springer US

More information

Scope and Contents

Contents

Purpose
Chronic granulomatous disease (CGD) is an innate immune deficiency disorder of phagocytes, resulting from mutations in the components of the NADPH oxidase complex that impair the synthesis of oxygen radicals, thus rendering patients susceptible to recurrent infections and excessive hyperinflammatory responses. The most common autosomal r...

Alternative Titles

Full title

Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A)

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_1999199982

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1999199982

Other Identifiers

ISSN

0271-9142

E-ISSN

1573-2592

DOI

10.1007/s10875-018-0475-1

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