IL-12/IFN-γ pathway. (A) Determination by ELISA of IFN-γ secretion before (NS) and after stimulation with BCG or BCG plus IL-12 in whole blood from healthy control subjects, the patient studied [P (D311G)], and an NEMO XR-MSMD patient (R319Q). (B) IL-12p40 production before (NS) and after activation with BCG or BCG plus IFN-γ in whole blood from healthy control subjects, patients with a complete IL-12B defect (IL12B^−/−), the patient studied (P [D311G]), and an NEMO XR-MSMD patient (R319Q). NS indicates not stimulated. (C) Determination, by ELISA, of the production of IL-12p40 by EBV-B cells after 24 hours of activation with 10-⁷M PDBu for healthy control subjects (C+; n = 9); patients with complete IL-12B deficiency (IL-12B^−/−; n = 2); a patient with complete CD40 deficiency (CD40^−/−); patients with an EDA phenotype with a hypomorphic mutation of NEMO susceptible to pyogenic infections, associated or not associated with mycobacterial infection (NEMO EDA-ID; n = 5); an NEMO EDA-ID patient with a different mutation affecting the same position in the protein as affected in the proband; the proband (P [D311G]); and NEMO patients susceptible to mycobacterial infections (NEMO E315A and R319Q; XR-MSMD; n = 2). These results are representative of 3 independent experiments.