Approach to Molecular Diagnosis of Chronic Granulomatous Disease (CGD): an Experience from a Large Cohort of 90 Indian Patients

[1]  A. Yamauchi,et al.  Monoclonal antibody 7D5 recognizes the R147 epitope on the gp91phox, phagocyte flavocytochrome b558 large subunit , 2018, Microbiology and immunology.

[2]  Jinqiao Sun,et al.  A Cohort of 169 Chronic Granulomatous Disease Patients Exposed to BCG Vaccination: a Retrospective Study from a Single Center in Shanghai, China (2004–2017) , 2018, Journal of Clinical Immunology.

[3]  A. Moyer,et al.  Diagnostic Tools for Inborn Errors of Human Immunity (Primary Immunodeficiencies and Immune Dysregulatory Diseases) , 2018, Current Allergy and Asthma Reports.

[4]  O. Ohara,et al.  Infection Profile in Chronic Granulomatous Disease: a 23-Year Experience from a Tertiary Care Center in North India , 2017, Journal of Clinical Immunology.

[5]  R. Gavrieli,et al.  Chronic granulomatous disease: Clinical, functional, molecular, and genetic studies. The Israeli experience with 84 patients , 2017, American journal of hematology.

[6]  Revathi Raj,et al.  Clinical, Immunological, and Molecular Findings of Patients with p47phox Defect Chronic Granulomatous Disease (CGD) in Indian Families , 2016, Journal of Clinical Immunology.

[7]  D. Roos,et al.  Chronic granulomatous disease , 1999 .

[8]  K. M. McSweeney,et al.  Clinical application of whole-genome sequencing in patients with primary immunodeficiency. , 2015, The Journal of allergy and clinical immunology.

[9]  D. A. Elaziz,et al.  Chronic granulomatous disease: Review of a cohort of Egyptian patients. , 2015, Allergologia et immunopathologia.

[10]  A. Pathare,et al.  Clinical and molecular findings of chronic granulomatous disease in Oman: family studies , 2015, Clinical genetics.

[11]  D. Roos,et al.  Molecular diagnosis of chronic granulomatous disease , 2014, Clinical and experimental immunology.

[12]  I. Tezcan,et al.  Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. , 2013, The Journal of allergy and clinical immunology.

[13]  O. Ohara,et al.  Rapid Detection of Intracellular p47phox and p67phox by Flow Cytometry; Useful Screening Tests for Chronic Granulomatous Disease , 2013, Journal of Clinical Immunology.

[14]  I. Adzhubei,et al.  Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2 , 2013, Current protocols in human genetics.

[15]  M. Moin,et al.  Inheritance Pattern and Clinical Aspects of 93 Iranian Patients with Chronic Granulomatous Disease , 2011, Journal of Clinical Immunology.

[16]  S. Holland,et al.  Residual NADPH oxidase and survival in chronic granulomatous disease. , 2010, The New England journal of medicine.

[17]  Jana Marie Schwarz,et al.  MutationTaster evaluates disease-causing potential of sequence alterations , 2010, Nature Methods.

[18]  S. Teimourian,et al.  Molecular Basis of Autosomal Recessive Chronic Granulomatous Disease in Iran , 2010, Journal of Clinical Immunology.

[19]  S. Ehl,et al.  Therapeutic strategy in p47-phox deficient chronic granulomatous disease presenting as inflammatory bowel disease. , 2010, The Journal of allergy and clinical immunology.

[20]  Xing Jun Li,et al.  A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. , 2009, Blood.

[21]  Dirk Roos,et al.  Chronic Granulomatous Disease: The European Experience , 2009, PloS one.

[22]  C. Béroud,et al.  Human Splicing Finder: an online bioinformatics tool to predict splicing signals , 2009, Nucleic acids research.

[23]  O. Sanal,et al.  Six different CYBA mutations including three novel mutations in ten families from Turkey, resulting in autosomal recessive chronic granulomatous disease , 2009, European journal of clinical investigation.

[24]  J. Roesler.  Remarks on the article Genetics and immunopathology of chronic granulomatous disease by Marie José Stasia and Xing Jun Li , 2008, Seminars in Immunopathology.

[25]  D. Goldblatt,et al.  Special Article: Chronic granulomatous disease in the United Kingdom and Ireland: a comprehensive national patient‐based registry , 2008, Clinical and experimental immunology.

[26]  J. Palmblad,et al.  Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase , 2006, Human mutation.

[27]  Steven Henikoff,et al.  SIFT: predicting amino acid changes that affect protein function , 2003, Nucleic Acids Res..

[28]  T. Fleisher,et al.  Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay. , 2003, The Journal of allergy and clinical immunology.

[29]  D. Noack,et al.  Identification of a novel NCF-1 (p47-phox) pseudogene not containing the signature GT deletion: significance for A47 degrees chronic granulomatous disease carrier detection. , 2002, Blood.

[30]  M. de Boer,et al.  Gene-scan method for the recognition of carriers and patients with p47(phox)-deficient autosomal recessive chronic granulomatous disease. , 2001, Experimental hematology.

[31]  G. Bokoch,et al.  Molecular basis for Rac2 regulation of phagocyte NADPH oxidase , 2001, Nature Immunology.

[32]  S. Holland,et al.  Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). , 2000, Blood cells, molecules & diseases.

[33]  F. Endo,et al.  Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency , 2000, Human Genetics.

[34]  Richard B. Johnston,et al.  Chronic Granulomatous Disease: Report on a National Registry of 368 Patients , 2000, Medicine.

[35]  G L Johnson,et al.  Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[36]  S. Holland,et al.  Hematologically important mutations: X-linked chronic granulomatous disease (third update). , 1997, Blood cells, molecules & diseases.

[37]  O. Ohara,et al.  Chronic Granulomatous Disease: Two Decades of Experience From a Tertiary Care Centre in North West India , 2013, Journal of Clinical Immunology.

[38]  D. Alling,et al.  Genotype-dependent variability in flow cytometric evaluation of reduced nicotinamide adenine dinucleotide phosphate oxidase function in patients with chronic granulomatous disease. , 1996, The Journal of pediatrics.