Clinical and molecular characteristics of patients with X-linked severe combined immunodeficiency disease (X-SCID). (IMAGE)
Caption
(A) Family pedigrees of the patients. The black solid symbols indicate the affected patients (P1–P9), the grey solid symbols indicate carriers of the same gene mutation, and the open symbols indicate unaffected family members. The squares indicate male subjects and the circles indicate female subjects. The crosses indicate spontaneous abortion or induced abortion because of abnormal prenatal examination and the slashes indicate death at a very young age. (B) Schematic representation of IL2RG gene map and the protein domain. The grey squares represent the exons (E1–E8). The red arrows indicate novel mutations identified in our patients and the grey arrows indicate previously reported gene mutations in P5, P6, and P8. (C) Scaled C-scores of the mutation identified in our patients. The blue dots represent missense variants and the green dots splice variants. (D) CD132 expression of total lymphocytes, NK cells, and T cells. The light grey indicates the isotype control, the dark grey shadow indicates the healthy control, and the red shadow indicates the patients. (E) Mean fluorescence intensity (MFI) of CD132 in lymphocytes, NK cells, and T cells.
Credit
Genes & Diseases
Usage Restrictions
Credit must be given to the creator. Only noncommercial uses of the work are permitted. No derivatives or adaptations of the work are permitted.
License
CC BY-NC-ND