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Journal of Clinical Immunology

, Volume 39, Issue 6, pp 611–615 | Cite as

Myriad Faces of Chronic Granulomatous Disease: All in an Indian Family with Novel CYBB Defect

  • Pandiarajan Vignesh
  • Madhubala Sharma
  • Rakesh Kumar Pilania
  • Jitendra Kumar Shandilya
  • Anit Kaur
  • Shubham Goel
  • Anupriya Kaur
  • Deepti Suri
  • Amit RawatEmail author
  • Ashwin Dalal
  • Asodu Sandeep Sarma
  • Surjit Singh
Letter to Editor
  • 40 Downloads

To the Editor,

Chronic granulomatous disease (CGD) is a phagocytic disorder affecting the NADPH oxidase complex [1]. Mutations in the CYBB gene result in X-linked form of CGD (XL-CGD). Female carriers of XL-CGD are known to have autoimmune phenomenon, and extreme lyonization of the X chromosome in female carriers could also result in deficient gp91phox protein and manifestations of CGD [2]. We report a family with X-linked CGD due to a novel CYBB defect where the index patient had a severe form of CGD, sister had manifestations of CGD, and carrier mother had manifestations of lupus.

Case Details

Index male patient presented at the age of 16 months with a history of recurrent episodes of fever and cervical adenitis that started from 4 months of age. Two maternal uncles had died at first year due to infective illness (Fig.  1a). Acid-fast bacilli were identified from fine-needle aspiration of his left axillary lymph node at initial presentation. He was treated with isoniazid, rifampicin,...

Notes

Acknowledgments

Authors thankfully acknowledge the Foundation for Primary Immunodeficiencies (FPID), USA. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. The authors also thankfully acknowledge Prof. Yu Lung Lau and Dr. Koon Wing Chan, Department of Pediatrics and Adolescent Medicine, Queen Mary Hospital, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong Special Administrative Region, China, for assistance in molecular diagnosis.

Funding

This study was financially supported by the Indian Council of Medical Research, New Delhi, and Department of Health Research, Ministry of Health and Family Welfare, Government of India, New Delhi, grant no. GIA/48/2014-DHR.

Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflict of interest.

Ethical Approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed Consent

Informed consent was obtained from all individual participants included in the study

Supplementary material

10875_2019_661_Fig3_ESM.png (283 kb)
Supplementary Figure 1

1A STR analysis using Investigator Argus X-12 Kit for amplification of 12 X-chromosomal loci in the proband, mother, and sister revealed that the sister has inherited two X chromosomes from mother (maternal isodisomy) and one X chromosome from father and there is recombination in the maternal X chromosome. The numbers represent the size of PCR product (alleles), the red dot represents the mutation in the CYBB gene, and dotted line depicts the probable site of recombination. 1B. Representative STR analysis peaks in detail showing the inheritance of alleles from mother to proband and sister. (PNG 283 kb)

10875_2019_661_MOESM1_ESM.tif (283 kb)
High Resolution Image (TIF 283 kb)
10875_2019_661_Fig4_ESM.png (257 kb)
Supplementary Figure 2

X inactivation study using HUMARA assay showing results in normal female, mother, and sister. Sister did not show complete X inactivation of any of the X chromosomes. (PNG 256 kb)

10875_2019_661_MOESM2_ESM.tiff (257 kb)
High Resolution Image (TIFF 256 kb).

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Pandiarajan Vignesh
    • 1
  • Madhubala Sharma
    • 1
  • Rakesh Kumar Pilania
    • 1
  • Jitendra Kumar Shandilya
    • 1
  • Anit Kaur
    • 1
  • Shubham Goel
    • 1
  • Anupriya Kaur
    • 2
  • Deepti Suri
    • 1
  • Amit Rawat
    • 1
    Email author
  • Ashwin Dalal
    • 3
  • Asodu Sandeep Sarma
    • 3
  • Surjit Singh
    • 1
  1. 1.Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics CentrePostgraduate Institute of Medical Education and ResearchChandigarhIndia
  2. 2.Medical Genetics Unit, Department of Pediatrics, Advanced Pediatrics CentrePostgraduate Institute of Medical Education and ResearchChandigarhIndia
  3. 3.Diagnostics DivisionCentre for DNA Fingerprinting and DiagnosticsHyderabadIndia

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