Figure 1. Genetic, immunological, and... | Rockefeller University Press

Figure 1.

$Genetic, immunological, and clinical features in a patient with X-linked SCID. (A) Familial segregation. The arrow indicates the proband. M, IL2RG variant, c.455-2A>G on the X chromosome; WT, wild type of IL2RG; Y, Y chromosome; NA, not available. (B) Flow cytometric analysis of CD132 expression on lymphocytes from patient and healthy control PBMCs. Cells were surface stained with anti-CD132-APC (clone TUGh4; BioLegend) for 20 min at room temperature. Lymphocytes were pre-gated by FSC/SSC. Data were acquired using a BD FACSVerse flow cytometer. Red represents isotype control, and blue represents CD132 expression. (C) XY-fluorescence in situ hybridization (FISH) of T cells. T cells were isolated from the patient’s peripheral blood by cell sorting using a FACS Aria flow cytometer. XY-FISH shows engrafted maternal T cells in the peripheral blood. His original T cells have green and red signals (XY chromosomes, not expressed in this figure), and engrafted maternal T cells have two red signals (XX chromosomes). (D) Clinical course of the patient after umbilical CBT. BU, busulfan; Flu, fludarabine; MTX, methotrexate; TAC, tacrolimus, mPSL, methylprednisolone; MMF, mycophenolate mofetil; MSC, mesenchymal stem cells. (E) Donor chimerism analysis in each cell fraction. This is the first reported case of DS complicated by SCID successfully treated with hematopoietic stem cell transplantation. While DS can lead to low TREC levels in NBS, which typically recover spontaneously, careful follow-up is indispensable for potential risk. PBMC, peripheral blood mononuclear cells, FSC, forward scatter, SSC, side scatter, AUC, area under the curve.$

Genetic, immunological, and clinical features in a patient with X-linked SCID. (A) Familial segregation. The arrow indicates the proband. M, IL2RG variant, c.455-2A>G on the X chromosome; WT, wild type of IL2RG; Y, Y chromosome; NA, not available. (B) Flow cytometric analysis of CD132 expression on lymphocytes from patient and healthy control PBMCs. Cells were surface stained with anti-CD132-APC (clone TUGh4; BioLegend) for 20 min at room temperature. Lymphocytes were pre-gated by FSC/SSC. Data were acquired using a BD FACSVerse flow cytometer. Red represents isotype control, and blue represents CD132 expression. (C) XY-fluorescence in situ hybridization (FISH) of T cells. T cells were isolated from the patient’s peripheral blood by cell sorting using a FACS Aria flow cytometer. XY-FISH shows engrafted maternal T cells in the peripheral blood. His original T cells have green and red signals (XY chromosomes, not expressed in this figure), and engrafted maternal T cells have two red signals (XX chromosomes). (D) Clinical course of the patient after umbilical CBT. BU, busulfan; Flu, fludarabine; MTX, methotrexate; TAC, tacrolimus, mPSL, methylprednisolone; MMF, mycophenolate mofetil; MSC, mesenchymal stem cells. (E) Donor chimerism analysis in each cell fraction. This is the first reported case of DS complicated by SCID successfully treated with hematopoietic stem cell transplantation. While DS can lead to low TREC levels in NBS, which typically recover spontaneously, careful follow-up is indispensable for potential risk. PBMC, peripheral blood mononuclear cells, FSC, forward scatter, SSC, side scatter, AUC, area under the curve.

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