Abstract
Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter
Highlights
Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor g (IL2RG) gene promoter
The gc acts as a signal-transducing subunit of cytokine receptors that are essential in the ontogeny and function of T, B, and natural killer (NK) cells, namely IL-2, IL-4, IL-7, IL-9, IL-15, and IL21
We describe 2 male relatives with a novel hypomorphic mutation in the IL2RG promoter who presented with a phenotype more akin to common variable immunodeficiency (CVID)
Summary
All material from patients was obtained with informed consent from adults and from the parents of children who participated in the study in accordance with the Declaration of Helsinki and with approvals from the ethics committees of Cambridge University Hospitals NHS Foundation Trust and Royal Free Hospital and Medical School (REC 04/Q0501/119). Determination of IL2RG mRNA expression in peripheral blood by using quantitative RT-PCR. The primer sequences for IL2RG were as follows: forward, 5-TGCTAAAACTGCAGAATCTGGT -3; reverse, 5-AGCTGGGATTCACT CAGTTTG-3. The primer sequences for the human b-actin gene were as follows: forward, 5-TCACCCACACTGTGCCCATCTACGA-3; reverse, 5-CAGCGGAACCGCTCATTGCCAATGG-3. On day 3 after transduction, half of the transduced cells were resuspended in 100 mL of fluorescence-activated cell sorting (FACS) buffer (0.5% BSA/PBS) containing 0.5 mL of anti–human IL2RG (BD Biosciences, San Jose, Calif) and incubated for 30 minutes at 48C. Half of the transduced cells were pelleted for extraction of genomic DNA, and the vector copy numbers were determined by using quantitative PCR, as described above. Three microliters of anti-human IL2RG (BD Biosciences) or matched isotype control (BD Biosciences) was added to 100 mL of blood incubated for 10 minutes at room temperature. Ten thousand lymphocyte events were acquired (FACsCalibur, BD Biosciences) and analyzed with CellQuest software (BD Biosciences)
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