کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3257485 | 1207417 | 2009 | 9 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Relative CD4 lymphopenia and a skewed memory phenotype are the main immunologic abnormalities in a child with Omenn syndrome due to homozygous RAG1-C2633T hypomorphic mutation Relative CD4 lymphopenia and a skewed memory phenotype are the main immunologic abnormalities in a child with Omenn syndrome due to homozygous RAG1-C2633T hypomorphic mutation](/preview/png/3257485.png)
We report a child with Omenn syndrome (OS) due to homozygous RAG1-C2633T mutations who had an unusual clinical and immunological presentation. She had delayed onset of OS-associated clinical features, had cleared a number of potentially fatal pathogens including respiratory syncytial virus, parainfluenza-3 virus and rotavirus, and was thriving at diagnosis. Laboratory assessment showed normal T and B lymphocyte number and function. T-cell-receptor repertoire in the blood was relatively diverse and her primary immunologic abnormality was skewing of circulating T-cells to the memory phenotype. A compelling explanation for the perplexing combination in OS of atopic/autoimmune and immunologic features has proven elusive. Homozygous RAG1-C2633T hypomorphic mutation may lead to significant residual immunity and a skewed memory phenotype. Our findings suggest that, in addition to host-genetic factors, environment, and/or pathogens, hypomorphic RAG mutations may differentially impact on V(D)J recombination activity and hence lead to a variable ability to sustain T and B cell lymphopoiesis. Importantly, this case emphasizes that such hypomorphic mutations may promote an attenuated phenotype, complicating the diagnosis of primary immunodeficiency (PID).
Journal: Clinical Immunology - Volume 131, Issue 3, June 2009, Pages 447–455