Fig. 6.

RelB deficiency compromises T cell development and functions. Immunophenotyping of PBMCs from 4-13 healthy controls (C, black dots), P1 (red dots), and P2 (blue dots). (A–C) Frequency of naïve (CD45RA⁺CCR7⁺), central memory (CM, CD45RA⁻CCR7⁺), effector memory (EM, CD45RA^+/−CCR7⁻), and terminally differentiated effector memory (TEMRA, CDR45RA⁻CCR7⁻) cells among the CD4⁺ (A) and CD8⁺ (B) T cells of healthy subjects (C, n = 4), P1 before HSCT, and P2. (C) Frequency of T_reg (CD3⁺CD4⁺CD25^hiFoxP3⁺) cells in the CD4⁺ T cell compartment in controls (n = 4), P1 before HSCT, and P2. (D) Frequencies of T_h subsets among memory CD4⁺ T cells from controls (n = 5), P1 before HSCT, and P2. Subsets were defined as follows: T_h1 (CXCR5⁻CXCR3⁺CCR4⁻CCR6⁻), T_h1* (CXCR5⁻CXCR3⁺CCR4⁻CCR6⁺), T_h2 (CXCR5⁻CXCR3⁻CCR4⁺CCR6⁻), and T_h17 (CXCR5⁻CXCR3⁻CCR4⁺CCR6⁺). Dotted horizontal lines represent the median value in each distribution. (E) Percentages of cells expressing IL-17A, IL-17F, IL-22, and IFN-γ ex vivo, as determined by flow cytometry, among memory CD4⁺ T cells from PBMCs activated by incubation with PMA and ionomycin for 8 h. (F) IL-17A and IL-22 production assessed by specific ELISA on whole-blood supernatants stimulated by incubation for 24 h with PMA and ionomycin. The two experiments were conducted in parallel for healthy subjects (n = 10), the RelB-deficient patient (P1), and patients with heterozygous gain-of-function STAT1 mutations (n = 6). (G) Cytokine production, measured by ELISA, for IL-17A and IL-17F after 4 d of culture in T_h0 or T_h17 conditions, for cells from nine different healthy donors, and from P1 before (pre-) and after (post-) HSCT.