UNASSIGNED: @entity1200 ( @entity1200 ) is caused by mutations of more than two hundred immunity-related genes. In addition to the heterogeneity of the diseases, the atypical presentation of @entity66 caused by hypomorphic mutations or somatic mosaicism makes genetic diagnosis challenging. Next-generation sequencing tests all genes simultaneously and has proven its innovative efficacy in genomics. We describe a male @entity1200 @entity1 without any family history of @entity465 . This @entity1 suffered from recurrent infections from 1  year of age. Laboratory analysis showed @entity7893 . T, B, and NK cells were present, but the T cell proliferative response decreased. Whole-exome sequencing analysis identified an @entity16409 @entity68319 missense mutation. @entity405 (+) and CD56(+) cells showed revertant somatic mosaicism to the wild-type allele. A late-onset and atypical presentation of the @entity915 ( @entity915 ) phenotype might be associated with revertant somatic mosaicism in T and NK cells. This @entity1 is the seventh reported case of @entity915 with revertant somatic mosaicism. His classical clinical management did not result in a molecular diagnosis because of the atypical presentation. The coverage that is provided by whole-exome sequencing of most @entity1200 genes effectively excluded differential diagnoses other than @entity915 . As next-generation sequencing becomes available in clinical practice, it will enhance our knowledge of @entity1200 and rescue currently undiagnosed @entity1 .

Late-Onset XXXX with a Novel @entity16409 Mutation and Probable Revertant Somatic Mosaicism.

@entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity66 :: ('MESH:D004194', 'Disease') :: ['each disease'] @entity915 :: ('MESH:D053632', 'Disease') :: ['X-linked severe combined immunodeficiency', 'X-SCID'] @entity1200 :: ('MESH:D007154', 'Disease') :: ['PID', 'Primary immunodeficiency disease'] @entity465 :: ('MESH:D007153', 'Disease') :: ['immunodeficiency'] @entity7893 :: ('MESH:D000361', 'Disease') :: ['hypogammaglobulinemia'] @entity16409 :: ('3561', 'Gene') :: ['IL2RG'] @entity68319 :: ('p|SUB|P|58|T', 'ProteinMutation') :: ['p.P58T'] @entity405 :: ('925', 'Gene') :: ['CD8']
@entity465 :: (MESH:D007153,Disease) :: ['Combined Immunodeficiency']
