Severe combined imunodeficiency caused by defect of the common gamma chain of the interleukin 2 receptor
نویسندگان
چکیده
Results The mutation detected was a defect of the common gamma chain of the interleukin 2 receptor (IL2Rg). Even though genetic counseling advised otherwise the patient’s mother got pregnant during follow-up and as no compatible donor was found we chose to wait birth and verify compatibility. Genetic evaluation of the newborn revealed the absence of the IL2Rg gene defect in blood cord and a matching HLA. Cord stem cell transplantation was scheduled afterwards.
منابع مشابه
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