Prevention of recurrence of severe combined immunodeficiency through preimplantation genetic testing: a case study of a novel IL2RG variant and confirmed maternal somatic mosaicism in Thailand

Abstract excerpt

RESEARCH QUESTION: Can preimplantation genetic testing for monogenic disorders (PGT-M) be effectively implemented to prevent recurrence of X-linked severe combined immunodeficiency (X-SCID) caused by a novel IL2RG variant when conventional parental carrier testing initially yields a negative result? DESIGN: CASE REPORT: A Thai couple with a prior affected child (deceased; T⁻B⁺NK⁻ immunophenotype; IL2RG c.676C >...

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