Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants – identification of 11 novel mutations in  CYBB | Zendy

Mollin M. | Zendy; Beaumel S. | Zendy; Vigne B. | Zendy; Brault J. | Zendy; RouxBuisson N. | Zendy; Rendu J. | Zendy; Barlogis V. | Zendy; Catho G. | Zendy; Dumeril C. | Zendy; Fouyssac F. | Zendy; Monnier D. | Zendy; Gandemer V. | Zendy; Revest M. | Zendy; Brion J.P. | Zendy; BostBru C. | Zendy; Jeziorski E. | Zendy; Eitenschenck L. | Zendy; Jarrasse C. | Zendy; Drillon Haus S. | Zendy; HouachéeChardin M. | Zendy; Hancart M. | Zendy; Michel G. | Zendy; Bertrand Y. | Zendy; Plantaz D. | Zendy; Kelecic J. | Zendy; Traberg R. | Zendy; Kainulainen L. | Zendy; Fauré J. | Zendy; Fieschi F. | Zendy; Stasia M. J. | Zendy

Open Access

Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants – identification of 11 novel mutations in CYBB

Author(s) -

Mollin M.,

Beaumel S.,

Vigne B.,

Brault J.,

RouxBuisson N.,

Rendu J.,

Barlogis V.,

Catho G.,

Dumeril C.,

Fouyssac F.,

Monnier D.,

Gandemer V.,

Revest M.,

Brion J.P.,

BostBru C.,

Jeziorski E.,

Eitenschenck L.,

Jarrasse C.,

Drillon Haus S.,

HouachéeChardin M.,

Hancart M.,

Michel G.,

Bertrand Y.,

Plantaz D.,

Kelecic J.,

Traberg R.,

Kainulainen L.,

Fauré J.,

Fieschi F.,

Stasia M. J.

Publication year - 2021

Publication title -

clinical & experimental immunology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.329

H-Index - 135

eISSN - 1365-2249

pISSN - 0009-9104

DOI - 10.1111/cei.13520

Subject(s) - chronic granulomatous disease , missense mutation , nadph oxidase , exon , mutation , genetics , microbiology and biotechnology , nox1 , biology , gene , reactive oxygen species

Sixteen CGD cases were clinically, functionally and genetically characterized and classified as suffering from different variant forms (X91 0 , X91 − or X91 + ) according to NOX2 expression and NADPH oxidase activity in their neutrophils. The pathological impact of each mutation of the new and extremely rare double missense mutation Thr208Arg‐Thr503Ile in CYBB was investigated using stable transfection in the NOX2 knock‐out PLB‐985 cell line. Low NADPH oxidase activity found in X91 − ‐CGD patients correlates with mild clinical forms, whereas X91 0 ‐CGD and X91 + ‐CGD cases remain the most clinically severes.

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