Figure 1.

Diagnosis of SCID with a novel IL2RG mutation and engrafted transplacental maternal T cells. (a) First episode of CMV infection in this patient. He was initially admitted to the hospital with a fever accompanied by leukopenia. (b) Pedigree showing affected individuals harbouring a novel IL2RG mutation. Solid symbols indicate affected persons who were hemizygous for the mutant allele; half‐solid symbols indicate heterozygous individuals; void symbols indicate unaffected persons; circles represent female family members; and squares represent male family members. *Genetic screening was not performed. (c) TREC results for SCID screening. < 40 copies μL⁻¹ was defined as negative. ²³ (d) Location of the IL2RG mutation in our patient. The patient had a novel hemizygous frameshift mutation altering the extracellular domain (arrow) of the interleukin‐2 receptor γ protein. (e) Flow cytometry analysis of CD132 expression by in vitro anti‐CD3/CD‐28‐stimulated CD8⁺/CD4⁺ T cells and ex vivo CD56⁺ NK cells from a healthy donor, heterozygous carrier (patient’s mother) and the patient. The mean fluorescence intensities (MFIs) of isotype and CD132 are shown. (f) STAT5 phosphorylation after IL‐2 stimulation (50 ng mL⁻¹). The ratio of the MFI of phospho‐STAT5 (pSTAT5) after IL‐2 stimulation to isotype is shown. (g) HLA typing of myeloid cells and T cells from the patient and both parents.