Journal of Clinical Immunology

, Volume 35, Issue 5, pp 449–453 | Cite as

IL2RG Reversion Event in a Common Lymphoid Progenitor Leads to Delayed Diagnosis and Milder Phenotype

  • Amy P. Hsu
  • Stefania Pittaluga
  • Bianca Martinez
  • Amy P. Rump
  • Mark Raffeld
  • Gulbu Uzel
  • Jennifer M. Puck
  • Alexandra F. Freeman
  • Steven M. HollandEmail author
Astute Clinician Report


Severe combined immunodeficiency (SCID) is most frequently caused by mutations in the cytokine receptor common gamma chain, CD132, encoded by the X-linked gene, IL2RG. Most patients present in the first year of life with failure to thrive, severe, opportunistic infections and absence of CD3+ T cells. We present a patient with pediatric illness and a diagnosis of combined variable immune deficiency (CVID) who was diagnosed at age 23 with an inherited IL2RG mutation causing loss of signal transduction through CD132. His peripheral blood included CD3/CD4 and CD3/CD8 positive cells as well as low levels of CD19+ B cells containing a reversion to the wildtype IL2RG allele. The reversion, which was not present at birth, may account for his mild phenotype and late diagnosis.


X-SCID IL2RG Reversion Common gamma chain 


Publication Disclaimer

The views expressed in this article are those of the authors and do not reflect the official policy of the U.S. Government. This research was supported in part by the Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, USA. This project has been funded in part with federal funds from the National Cancer Institute, National Institutes of Health, under Contract No. HHSN261200800001E.

Conflict Interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer Science+Business Media New York (outside the USA) 2015

Authors and Affiliations

  • Amy P. Hsu
    • 1
  • Stefania Pittaluga
    • 2
  • Bianca Martinez
    • 1
  • Amy P. Rump
    • 3
  • Mark Raffeld
    • 2
  • Gulbu Uzel
    • 1
  • Jennifer M. Puck
    • 4
  • Alexandra F. Freeman
    • 1
  • Steven M. Holland
    • 1
    Email author
  1. 1.National Institute of Allergy and Infectious Diseases, National Institutes of HealthLaboratory of Clinical Infectious DiseasesBethesdaUSA
  2. 2.Laboratory of PathologyNational Cancer Institute, National Institutes of HealthBethesdaUSA
  3. 3.Clinical Research Directorate/Clinical Monitoring Research ProgramLeidos Biomedical Research, Inc., Frederick National Laboratory for Cancer ResearchFrederickUSA
  4. 4.Department of PediatricsUniversity of California, San FranciscoSan FranciscoUSA

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