Family-based next-generation sequencing study identifies an IL2RG variant in an infant with primary immunodeficiency

Aravind K. Bandari, Sunil Bhat, M. V. Archana, Sunita Yadavalli, Krishna Patel, Pavithra Rajagopalan, Anil K. Madugundu, Manisha Madkaikar, Kavita Reddy, Babylakshmi Muthusamy, Akhilesh Pandey

Research output: Contribution to journalArticlepeer-review


Primary immunodeficiencies (PIDs) are a rare and heterogeneous group of inherited genetic disorders that are characterized by an absent or impaired immune system. In this report, we describe the use of next-generation sequencing to investigate a male infant with clinical and immunological manifestations suggestive of a PID. Whole-exome sequencing of the infant along with his parents revealed a novel nucleotide variant (cytosine to adenine substitution at nucleotide position 252) in the coding region of the interleukin 2 receptor subunit gamma (IL2RG) gene. The mother was found to be a carrier. These findings are consistent with a diagnosis of X-linked severe combined immunodeficiency and represent the first such reported mutation in an Indian family. This mutation leads to an asparagine to lysine substitution (p.Asn84Lys) located in the extracellular domain of IL2RG, which is predicted to be pathogenic. Our study demonstrates the power of next-generation sequencing in identifying potential causative mutations to enable accurate clinical diagnosis, prenatal screening, and carrier female detection in PID patients. We believe that this approach, which is not a current routine in clinical practice, will become a mainstream component of individualized medicine in the near future.

Original languageEnglish (US)
Pages (from-to)285-290
Number of pages6
JournalOMICS A Journal of Integrative Biology
Issue number5
StatePublished - May 1 2019
Externally publishedYes


  • bone marrow transplantation
  • genetic defects
  • molecular diagnostics
  • newborn screening
  • next-generation sequencing
  • primary immunodeficiency

ASJC Scopus subject areas

  • Biotechnology
  • Biochemistry
  • Molecular Medicine
  • Molecular Biology
  • Genetics


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