X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation
Abstract Chronic granulomatous disease (CGD) is characterized by defects in the superoxide producing enzyme NADPH oxidase causing phagocytes to improperly clear invading pathogens. Here we report findings of a late presenting 16-year-old female with X-linked CGD. The patient presented with community...
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| Published in: | Clinical immunology (Orlando, Fla.) Vol. 129; no. 2; pp. 372 - 380 |
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| Main Authors: | , , , , |
| Format: | Journal Article |
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| Abstract | Abstract Chronic granulomatous disease (CGD) is characterized by defects in the superoxide producing enzyme NADPH oxidase causing phagocytes to improperly clear invading pathogens. Here we report findings of a late presenting 16-year-old female with X-linked CGD. The patient presented with community-acquired pneumonia, but symptoms persisted for 2 weeks during triple antimicrobial coverage. Cultures revealed Aspergillus fumigatus which was resolved through aggressive voriconazole treatment. Neutrophil studies revealed NADPH oxidase activity and flavocytochrome b558 levels that were 4–8% of controls and suggested carrier status of the mother. We found a null mutation in the CYBB gene (c.252insAG) predicting an aberrant gp91 phox protein (p.Cys85fsX23) in the heterozygous state. Methylation analysis demonstrated extremely skewed X chromosome inactivation favoring the maternally inherited defective gene. In conclusion, a novel mutation in the CYBB gene and an extremely skewed X-inactivation event resulted in the rare expression of the CGD phenotype in a carrier female. |
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| AbstractList | Chronic Granulomatous Disease (CGD) is characterized by defects in the superoxide producing enzyme NADPH oxidase causing phagocytes to improperly clear invading pathogens. Here we report findings of a late presenting 16 year old female with X-linked CGD. The patient presented with community-acquired pneumonia, but symptoms persisted for 2 weeks during triple antimicrobial coverage. Cultures revealed
Aspergillus fumigatus
which was resolved through aggressive voriconazole treatment. Neutrophil studies revealed NADPH oxidase activity and flavocytochrome
b
558
levels that were 4–8% of controls and suggested carrier status of the mother. We found a null mutation in the CYBB gene (c.252insAG) predicting an aberrant gp91
phox
protein (p.Cys85fsX23) in the heterozygous state. Methylation analysis demonstrated extremely skewed X chromosome inactivation favoring the maternally inherited defective gene. In conclusion, a novel mutation in the CYBB gene and an extremely skewed X-inactivation event resulted in the rare expression of the CGD phenotype in a carrier female. Chronic granulomatous disease (CGD) is characterized by defects in the superoxide producing enzyme NADPH oxidase causing phagocytes to improperly clear invading pathogens. Here we report findings of a late presenting 16-year-old female with X-linked CGD. The patient presented with community-acquired pneumonia, but symptoms persisted for 2 weeks during triple antimicrobial coverage. Cultures revealed Aspergillus fumigatus which was resolved through aggressive voriconazole treatment. Neutrophil studies revealed NADPH oxidase activity and flavocytochrome b 558 levels that were 4–8% of controls and suggested carrier status of the mother. We found a null mutation in the CYBB gene (c.252insAG) predicting an aberrant gp91 phox protein (p.Cys85fsX23) in the heterozygous state. Methylation analysis demonstrated extremely skewed X chromosome inactivation favoring the maternally inherited defective gene. In conclusion, a novel mutation in the CYBB gene and an extremely skewed X-inactivation event resulted in the rare expression of the CGD phenotype in a carrier female. Abstract Chronic granulomatous disease (CGD) is characterized by defects in the superoxide producing enzyme NADPH oxidase causing phagocytes to improperly clear invading pathogens. Here we report findings of a late presenting 16-year-old female with X-linked CGD. The patient presented with community-acquired pneumonia, but symptoms persisted for 2 weeks during triple antimicrobial coverage. Cultures revealed Aspergillus fumigatus which was resolved through aggressive voriconazole treatment. Neutrophil studies revealed NADPH oxidase activity and flavocytochrome b558 levels that were 4–8% of controls and suggested carrier status of the mother. We found a null mutation in the CYBB gene (c.252insAG) predicting an aberrant gp91 phox protein (p.Cys85fsX23) in the heterozygous state. Methylation analysis demonstrated extremely skewed X chromosome inactivation favoring the maternally inherited defective gene. In conclusion, a novel mutation in the CYBB gene and an extremely skewed X-inactivation event resulted in the rare expression of the CGD phenotype in a carrier female. Chronic granulomatous disease (CGD) is characterized by defects in the superoxide producing enzyme NADPH oxidase causing phagocytes to improperly clear invading pathogens. Here we report findings of a late presenting 16-year-old female with X-linked CGD. The patient presented with community-acquired pneumonia, but symptoms persisted for 2 weeks during triple antimicrobial coverage. Cultures revealed Aspergillus fumigatus which was resolved through aggressive voriconazole treatment. Neutrophil studies revealed NADPH oxidase activity and flavocytochrome b(558) levels that were 4-8% of controls and suggested carrier status of the mother. We found a null mutation in the CYBB gene (c.252insAG) predicting an aberrant gp91(phox) protein (p.Cys85fsX23) in the heterozygous state. Methylation analysis demonstrated extremely skewed X chromosome inactivation favoring the maternally inherited defective gene. In conclusion, a novel mutation in the CYBB gene and an extremely skewed X-inactivation event resulted in the rare expression of the CGD phenotype in a carrier female. |
| Author | Lewis, Eric M Sergeant, Susan Singla, Manav Koty, Patrick P McPhail, Linda C |
| AuthorAffiliation | a Department of Biochemistry, Wake Forest University School of Medicine, Winston-Salem, North Carolina d Section on Medical Genetics, Department of Pediatrics, Wake Forest University School of Medicine, Winston-Salem, North Carolina c Asthma, Allergy, & Sinus Center, Baltimore, Maryland b Section on Pulmonary, Critical Care, Allergy and Immunologic Diseases, Wake Forest University School of Medicine, Winston-Salem, North Carolina |
| AuthorAffiliation_xml | – name: c Asthma, Allergy, & Sinus Center, Baltimore, Maryland – name: d Section on Medical Genetics, Department of Pediatrics, Wake Forest University School of Medicine, Winston-Salem, North Carolina – name: b Section on Pulmonary, Critical Care, Allergy and Immunologic Diseases, Wake Forest University School of Medicine, Winston-Salem, North Carolina – name: a Department of Biochemistry, Wake Forest University School of Medicine, Winston-Salem, North Carolina |
| Author_xml | – sequence: 1 fullname: Lewis, Eric M – sequence: 2 fullname: Singla, Manav – sequence: 3 fullname: Sergeant, Susan – sequence: 4 fullname: Koty, Patrick P – sequence: 5 fullname: McPhail, Linda C |
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| Keywords | CGD X-inactivation gp91 phox Flavocytochrome b 558 NADPH oxidase CYBB Neutrophil Carrier Primary immunodeficiency Sex linked character Granulocyte Hemopathy Inactivation NAD(P)H oxidase Immunology Primary Female Genetics X-Chromosome gp91phox Immunopathology Chronic granulomatous disease Secondary Late Flavocytochrome b558 Immune deficiency Genetic disease Mutation Leukocyte disease |
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| Snippet | Abstract Chronic granulomatous disease (CGD) is characterized by defects in the superoxide producing enzyme NADPH oxidase causing phagocytes to improperly... Chronic granulomatous disease (CGD) is characterized by defects in the superoxide producing enzyme NADPH oxidase causing phagocytes to improperly clear... Chronic Granulomatous Disease (CGD) is characterized by defects in the superoxide producing enzyme NADPH oxidase causing phagocytes to improperly clear... |
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| SubjectTerms | Adolescent Allergy and Immunology Biological and medical sciences Carrier CGD CYBB Cytochrome b Group - analysis Female Flavocytochrome b558 Fundamental and applied biological sciences. Psychology Fundamental immunology Genetic Diseases, X-Linked - genetics gp91 phox Granulomatous Disease, Chronic - genetics Humans Immunodeficiencies Immunodeficiencies. Immunoglobulinopathies Immunopathology Introns Medical sciences Membrane Glycoproteins - genetics Mutation NADPH oxidase NADPH Oxidase 2 NADPH Oxidases - analysis NADPH Oxidases - genetics Neutrophil Neutrophils - physiology Primary immunodeficiency X Chromosome Inactivation X-inactivation |
| Title | X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation |
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