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- Title
Aspergillus fumigatus Skull Bone Osteomyelitis and Native Valve Endocarditis in a Young Boy: an Unusual Presentation of Chronic Granulomatous Disease.
- Authors
Anjani, Gummadi; Jindal, Ankur Kumar; Prithvi, Ashwini; Kaur, Harsimran; Sharma, Madhubala; Naganur, Sanjeev; Vignesh, Pandiarajan; Rawat, Amit; Singh, Surjit
- Abstract
PCR products, thus obtained, contained a mixture of labeled I NCF1 i gene and I NCF1 i pseudogenes that differ by 2 bp in length (GTGT in I NCF1 i gene [198 bp long] and GT in its pseudogene [196 bp long]). Gene-scan shows two peaks in control (one each from pseudogene and wild-type gene) whereas index patient has only one peak of pseudogene. The I NCF1 i gene has 2 pseudogenes and the genetic defect likely develops because of a recombination event between the functional I NCF1 i gene and one of its pseudogenes that contains GT deletion. Gene to pseudogene ratio in the gene-scan was 2:4 in control and 0:6 in the index patient.
- Subjects
OSTEOMYELITIS; CHRONIC granulomatous disease; INFECTIVE endocarditis; ASPERGILLUS fumigatus; CONTRAST-enhanced magnetic resonance imaging; ENDOCARDITIS; SKULL
- Publication
Journal of Clinical Immunology, 2021, Vol 41, Issue 4, p814
- ISSN
0271-9142
- Publication type
Letter
- DOI
10.1007/s10875-020-00939-8