Late presenting atypical severe combined immunodeficiency (SCID) associated with a novel missense mutation in DCLRE1C
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DOI: 10.1111/pai.12812
Abstract: Immunodeficiency associated with mutations in the DNA cross-link repair 1C gene (DCLRE1C) can have variable clinical presentations including severe combined immunodeficiency (SCID), Omenn syndrome, atypical SCID or common variable immunodeficiency (CVID) (1-3). DCLRE1C encodes the… read more here.
Keywords: dclre1c; immunodeficiency; immunodeficiency scid; combined immunodeficiency ... See more keywords