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Aspergillus fumigatus Skull Bone Osteomyelitis and Native Valve Endocarditis in a Young Boy: an Unusual Presentation of Chronic Granulomatous Disease

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Authors and Affiliations

  1. Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India

    Gummadi Anjani, Ankur Kumar Jindal, Ashwini Prithvi, Madhubala Sharma, Pandiarajan Vignesh, Amit Rawat & Surjit Singh

  2. Department of Medical Microbiology, Post Graduate Institute of Medical Education and Research, Chandigarh, India

    Harsimran Kaur

  3. Department of Cardiology, Post Graduate Institute of Medical Education and Research, Chandigarh, India

    Sanjeev Naganur

Authors
  1. Gummadi Anjani
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  2. Ankur Kumar Jindal
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  3. Ashwini Prithvi
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  4. Harsimran Kaur
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  5. Madhubala Sharma
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  6. Sanjeev Naganur
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  7. Pandiarajan Vignesh
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  8. Amit Rawat
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  9. Surjit Singh
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Contributions

GA: writing of initial draft, patient management, review of literature, editing of the manuscript at all stages of its production

AKJ: conceptualization, writing of initial draft, patient management, review of literature, editing and critical revision of the manuscript at all stages of its production

AP: writing of initial draft, patient management, review of literature

HK, MS: laboratory investigations, writing of the initial draft, review of literature

SN, PV: writing of initial draft, patient management, review of literature

AR: writing of initial draft, patient management, review of literature, editing of the manuscript

SS: writing of initial draft, patient management, review of literature, editing of the manuscript, supervision of the entire work

Corresponding author

Correspondence to Ankur Kumar Jindal.

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The authors declare that they have no conflict of interest.

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Supplementary Information

Supplementary figure 1

(A) DHR assay done by stimulation of neutrophils with phorbol myristate acetate (PMA) for 15 min of index case showed absent right shift of stimulated neutrophils (SI*- 2.1) as compared to control (SI*- 205.8); (B) DHR of mother (SI*- 139.23) with no double peak. (PNG 72 kb)

Supplementary figure 2

Gene-scan result from genomic DNA of patient was compared with the results obtained from a control. Pseudogene product is 2 base pairs shorter than the wild-type gene and has small retention time (X-axis). Hence, it appears first followed by the wild-type gene in a healthy individual (control). Y-axis demonstrates the height of the peak that suggest number of polymerase chain reaction [PCR] products. The height is more for the pseudogene product suggesting that more than 1 pseudogenes are present per NCF1 gene. Gene-scan shows two peaks in control (one each from pseudogene and wild-type gene) whereas index patient has only one peak of pseudogene. This confirms the GT deletion of exon-2 (NCF1 gene) in index case. Ratio between peak heights depicts relative number of genes and pseudogenes. Gene to pseudogene ratio in the gene-scan was 2:4 in control and 0:6 in the index patient. (PNG 33 kb)

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Anjani, G., Jindal, A.K., Prithvi, A. et al. Aspergillus fumigatus Skull Bone Osteomyelitis and Native Valve Endocarditis in a Young Boy: an Unusual Presentation of Chronic Granulomatous Disease. J Clin Immunol 41, 814–816 (2021). https://doi.org/10.1007/s10875-020-00939-8

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  • DOI: https://doi.org/10.1007/s10875-020-00939-8

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