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P67-phox (NCF2) Lacking Exons 11 and 12 Is Functionally Active and Leads to an Extremely Late Diagnosis of Chronic Granulomatous Disease (CGD)

Please always quote using this URN: urn:nbn:de:bvb:20-opus-134948
  • 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 oxidaseTwo 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.show moreshow less

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Metadaten
Author: Joachim Roesler, Florian Segerer, Henner Morbach, Stefan Kleinert, Sebastian Thieme, Angela Rösen-Wolff, Johannes G. Liese
URN:urn:nbn:de:bvb:20-opus-134948
Document Type:Journal article
Faculties:Medizinische Fakultät / Kinderklinik und Poliklinik
Medizinische Fakultät / Medizinische Klinik und Poliklinik II
Language:English
Parent Title (English):PLoS One
Year of Completion:2012
Volume:7
Issue:4
Pagenumber:e34296
Source:PLoS ONE 7(4): e34296. doi:10.1371/journal.pone.0034296
DOI:https://doi.org/10.1371/journal.pone.0034296
Dewey Decimal Classification:6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Tag:European experience; NADPH oxidase; P67(PHOX); gene; infection; interferon gamma; mutation; prophylaxis; region
Release Date:2017/12/17
Licence (German):License LogoCC BY: Creative-Commons-Lizenz: Namensnennung