Journal
BLOOD
Volume 112, Issue 5, Pages 1872-1875Publisher
AMER SOC HEMATOLOGY
DOI: 10.1182/blood-2008-04-149708
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X-linked severe combined immunodeficiency (XSCID) is caused by mutations of the common gamma chain (gamma c) and usually characterized by the absence of T and natural killer (INK) cells. Here, we report an atypical case of XSCID presenting with autologous T and INK cells and Omenn syndrome-like manifestations. The patient carried a splice-site mutation (IVS1+5G > A) that caused most of the mRNA to be incorrectly spliced but produced normally spliced transcript in lesser amount, leading to residual gamma c expression and development of T and INK cells. The skin biopsy specimen showed massive infiltration of revertant T cells. Those T cells were found to have a second-site mutation and result in complete restoration of correct splicing. These findings suggest that the clinical spectrum of XSCID is quite broad and includes atypical cases mimicking Omenn syndrome, and highlight the importance of revertant mosaicism as a possible cause for variable phenotypic expression.
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