Clinical, functional and genetic characterization of Sixteen Patients Suffering from Chronic Granulomatous Disease variants - Identification of Eleven Novel Mutations in CYBB.

Clinical, functional and genetic characterization of Sixteen Patients Suffering from Chronic Granulomatous Disease variants - Identification of Eleven Novel Mutations in CYBB. Clin Exp Immunol. 2020 Sep 20;: Authors: Mollin M, Beaumel S, Vigne B, Brault J, Roux-Buisson N, Rendu J, Barlogis V, Catho G, Dumeril C, Fouyssac F, Monnier D, Gandemer V, Revest M, Brion JP, Bost-Bru C, Jeziorski E, Laurence Eitenschenck, Jarrasse C, Haus SD, Houachée-Chardin M, Hancart M, Gérard Michel, Bertrand Y, Plantaz D, Kelecic J, Traberg R, Kainulainen L, Fauré J, Fieschi F, Stasia MJ Abstract Chronic Granulomatous Disease (CGD) is a rare inherited disorder in which phagocytes lack 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 done. We classified them as suffering from different variants of CGD (X910 , X91- or X91+ ) according to NOX2 expression and NADPH oxidase activity in neutrophils. Eleven mutations were novel (9 X910 -CGD and 2 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 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...
Source: Clinical and Developmental Immunology - Category: Allergy & Immunology Authors: Tags: Clin Exp Immunol Source Type: research