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

Chronic granulomatous disease (CGD) is a rare inherited disorder in which phagocytes lack nicotinamide adenine dinucleotide phosphate (NADPH) oxidase activity. The most common form is the X-linked CGD (X91-CGD), caused by mutations in the CYBB gene. Clinical, functional and genetic characterizations of 16 CGD cases of male patients and their relatives were performed. We classified them as suffering from different variants of CGD (X910, X91- or X91+), according to NADPH oxidase 2 (NOX2) expression and NADPH oxidase activity in neutrophils. Eleven mutations were novel (nine X910-CGD and two X91--CGD). One X910-CGD was due to a new and extremely rare double missense mutation Thr208Arg-Thr503Ile. We investigated the pathological impact of each single mutation using stable transfection of each mutated cDNA in the NOX2 knock-out PLB-985 cell line. Both mutations leading to X91--CGD were also novel; one deletion, c.-67delT, was localized in the promoter region of CYBB; the second c.253-1879A>G mutation activates a splicing donor site, which unveils a cryptic acceptor site leading to the inclusion of a 124-nucleotide pseudo-exon between exons 3 and 4 and responsible for the partial loss of NOX2 expression. Both X91--CGD mutations were characterized by a low cytochrome b558 expression and a faint NADPH oxidase activity. The functional impact of new missense mutations is discussed in the context of a new three-dimensional model of the dehydrogenase domain of NOX2. Our study demonstrates that low NADPH oxidase activity found in both X91--CGD patients correlates with mild clinical forms of CGD, whereas X910-CGD and X91+-CGD cases remain the most clinically severe forms.</p

Carcinomes gastriques à cellules en bague à chaton révélés par métastases osseuses (à propos de deux cas et revue de la littérature)

LYON1-BU Santé (693882101) / SudocPARIS-BIUM (751062103) / SudocPARIS-Bib. Serv.Santé Armées (751055204) / SudocSudocFranceF

Élémens des sciences naturelles

Vol. II (398 p., [18] h. de grab.

Título: Histoire naturelle complete des reptiles

T. VII, IX y X "en collaboration avec ses aides naturalistes au muséum, feu G. Bibron et A. Dumeril"T. I : 1834 - t. II : 1835 - t. III y IV : 1836 y 1837, Imprimerie et Fonderie de Fain - t. V y VI : 1839 y 1844 ; Imprimerie de Fain et Thunot - t. VII : 1854 ; Amiens, Imprimerie de Duval et Herment - t. VIII : 1841 ; Imprimerie de Fain et Thunot - t. IX y X : 1854 ; Amiens, Imp. de Duval et Herment.T. I : XIV, 447 p. -- T. II : II, 680 p., [2] h. pleg. -- t. III : IV, 517 p., [2] h. pleg. -- t. IV : II, 571 p., [2] h. pleg. -- t. V : VIII, 854 p., [3] h. pleg. -- t. VI : XII, 609, 2 p., [2] h. pleg. -- t. VII : 2 v. -- t. VIII : III, 792 p., [4] h. pleg. -- t. IX : XX, 440 p., [1] h. pleg. -- T.X. 24 p., [1] h. de retr., 108 h. de lám. col. y n.T. VII enc. en 2 vLas h. de lám. son en realidad 120, porque algunas llevan la numeración repetid

Título: Histoire naturelle complete des reptiles : Atlas

Port. y texto a dos tintasLas h. de lám. son en realidad 120, porque algunas llevan la numeración repetidaContiene: Histoire naturelle des cétacés ou Recueil et examen des faits dont se compose l'histoire naturelle de ces animaux : atlas / par M.F. Cuvie

Título: Histoire naturelle complete des reptiles

T. VII y XIX "en collaboration avec ses aides naturalistes au muséum, feu G. Bibron et A. Dumeril"T. I : 1834 - t. II : 1835 - t. III y IV : 1836 y 1837, Imprimerie et Fonderie de Fain - t. V y VI : 1839 y 1844 ; Imprimerie de Fain et Thunot - t. VII : 1854 ; Amiens, Imprimerie de Duval et Herment - t. VIII : 1841 ; Imprimerie de Fain et Thunot - t. XIX : 1854 ; Amiens, Imp. de Duval et HermentT. I : XIV, 447 p. - T. II : II, 680 p., [2] h. pleg. - t. III : IV, 517 p., [2] h. pleg. - t. IV : II, 571 p., [2] h. pleg. - t. V : VIII, 854 p., [3] h. pleg. - t. VI : XII, 609, 2 p., [2] h. pleg. - t. VII : 2 v. - t. VIII : III, 792 p., [4] h. pleg. - t. IX : XX, 440 p., [1] h. pleg.T. VII enc. en 2