Clinical, Functional and Genetic Analysis of Twenty-Four Patients with Chronic Granulomatous Disease – Identification of Eight Novel Mutations in CYBB and NCF2 Genes

Syndrome d’activation lymphohistiocytaire associé à une infection à Burkholderia cepacia complex chez un nourrisson révélant une granulomatose septique et une intégration génomique du virus HHV-6

(2011) A. Araujo et al.   ARCHIVES DE PEDIATRIE

Excellent survival after sibling or unrelated donor stem cell transplantation for chronic granulomatous disease

(2011) Caridad A. Martinez et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Role of Putative Second Transmembrane Region of Nox2 Protein in the Structural Stability and Electron Transfer of the Phagocytic NADPH Oxidase

(2011) Antoine Picciocchi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Characterization of superoxide overproduction by the D-LoopNox4-Nox2 cytochrome b558 in phagocytes—Differential sensitivity to calcium and phosphorylation events

(2010) Laure Carrichon et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Hematologically important mutations: The autosomal recessive forms of chronic granulomatous disease (second update)

(2010) Dirk Roos et al.   BLOOD CELLS MOLECULES AND DISEASES

Hematologically important mutations: X-linked chronic granulomatous disease (third update)

(2010) Dirk Roos et al.   BLOOD CELLS MOLECULES AND DISEASES

Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 gene

(2010) Charles Coutton et al.   CLINICAL BIOCHEMISTRY

Regulation of NADPH Oxidase Activity in Phagocytes

(2010) Franck Debeurme et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Gene Therapy of Chronic Granulomatous Disease: The Engraftment Dilemma

(2010) Manuel Grez et al.   MOLECULAR THERAPY

Residual NADPH Oxidase and Survival in Chronic Granulomatous Disease

(2010) Douglas B. Kuhns et al.   NEW ENGLAND JOURNAL OF MEDICINE

A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40phox and selective defects in neutrophil NADPH oxidase activity

(2009) J. D. Matute et al.   BLOOD

Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: An Italian multicenter study

(2009) Gigliola Di Matteo et al.   MOLECULAR IMMUNOLOGY

Chronic Granulomatous Disease: The European Experience

(2009) J. Merlijn van den Berg et al.   PLoS One

X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation

(2008) Eric M. Lewis et al.   CLINICAL IMMUNOLOGY

First Report of Clinical, Functional, and Molecular Investigation of Chronic Granulomatous Disease in Nine Jordanian Families

(2008) Faris G. Bakri et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Genetics and immunopathology of chronic granulomatous disease

(2008) Marie José Stasia et al.   Seminars in Immunopathology