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[Genetic and proteinic analysis of a Chinese boy with X-linked lymphoproliferative disease and his maternal relatives].

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TL;DRAbstract

We identified a Chinese XLP case genetically. Assessment of SAP expression on PBMCs by flow cytometry seemed to be an effective rapid diagnostic method for this disease. Absence of EBV infection does not diminish the possibility of XLP.

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We identified a Chinese XLP case genetically. Assessment of SAP expression on PBMCs by flow cytometry seemed to be an effective rapid diagnostic method for this disease. Absence of EBV infection does not diminish the possibility of XLP.

Keywords

MedicineHypogammaglobulinemiaNonsense mutationImmunologyFulminantImmunodeficiencyLymphoproliferative disordersCousin

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