P67-phox (NCF2) lacking exons 11 and 12 is functionally active and leads to an extremely late diagnosis of chronic granulomatous disease (CGD)
Autor: | Sebastian Thieme, Joachim Roesler, Angela Rösen-Wolff, Johannes G. Liese, Henner Morbach, Florian Segerer, Stefan Kleinert |
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Jazyk: | angličtina |
Rok vydání: | 2012 |
Předmět: |
Male
Pathology medicine.medical_specialty Evolutionary Immunology Delayed Diagnosis Immune Cells lcsh:Medicine Granulomatous Disease Chronic Aspergillosis medicine.disease_cause Exon Chronic granulomatous disease Autosomal Recessive Genetic Mutation Genetics medicine Humans splice ddc:610 lcsh:Science Biology White Cells Clinical Genetics Evolutionary Biology Mutation Multidisciplinary Lung business.industry Pulmonary Fistula lcsh:R Fungal Diseases Hematology Exons Middle Aged Phosphoproteins medicine.disease Infectious Diseases medicine.anatomical_structure Immunology Medicine Clinical Immunology lcsh:Q Gene Function Allergic bronchopulmonary aspergillosis business Research Article |
Zdroj: | PLoS ONE, Vol 7, Iss 4, p e34296 (2012) PLoS ONE |
ISSN: | 1932-6203 |
Popis: | Two brothers in their fifties presented with a medical history of suspected fungal allergy, allergic bronchopulmonary aspergillosis, alveolitis, and invasive aspergillosis and pulmonary fistula, respectively. Eventually, after a delay of 50 years, chronic granulomatous disease (CGD) was diagnosed in the index patient. We found a new splice mutation in the NCF2 (p67-phox) gene, c.1000 + 2T → G, that led to several splice products one of which lacked exons 11 and 12. This deletion was in frame and allowed for remarkable residual NADPH oxidase activity as determined by transduction experiments using a retroviral vector. We conclude that p67-phox which lacks the 34 amino acids encoded by the two exons can still exert considerable functional activity. This activity can partially explain the long-term survival of the patients without adequate diagnosis and treatment, but could not prevent progressing lung damage. |
Databáze: | OpenAIRE |
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