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.

doi:10.1016/j.clim.2009.01.014

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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.

Clinical immunology (Orlando, Fla.) - 1 Jun 2009

McCusker Christine, Hotte Simon, Le Deist Francoise, Hirschfeld Aaron F, Mitchell David, Nguyen Van-Hung, Gagnon Remi, Mazer Bruce, Turvey Stuart E, Jabado Nada

Abstract excerpt

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...

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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.

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