IL2RG reversion event in a common lymphoid progenitor leads to delayed diagnosis and milder phenotype.

Abstract

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.

• Authors: Amy P Hsu, Stefania Pittaluga, Bianca Martinez, Amy P Rump, Mark Raffeld, Gulbu Uzel, Jennifer M Puck, Alexandra F Freeman, Steven M Holland
• Journal: Journal of clinical immunology (J Clin Immunol) Vol. 35 Issue 5 Pg. 449-53 (Jul 2015) ISSN: 1573-2592 [Electronic] Netherlands
• PMID: 26076747 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, N.I.H., Intramural)

Chemical References

• Antigens, CD19
• Interleukin Receptor Common gamma Subunit

Topics

• Adult
• Antigens, CD19 (metabolism)
• B-Lymphocytes (physiology)
• Bronchiectasis (diagnosis, genetics)
• CD4-Positive T-Lymphocytes (physiology)
• CD8-Positive T-Lymphocytes (physiology)
• Delayed Diagnosis
• Humans
• Infant, Newborn
• Infections (diagnosis, genetics)
• Interleukin Receptor Common gamma Subunit (genetics)
• Lymphoid Progenitor Cells (physiology)
• Male
• Mutation (genetics)
• Pedigree
• Phenotype
• Severe Combined Immunodeficiency (diagnosis, genetics)
• Signal Transduction (genetics)
• Skin (pathology)
• Young Adult