Figure 1.

Clinical and immunologic presentation of patient with SLP76 mutation. (A) Nonblanching, petechia-like, small lesions in the patient's forearm. (B) Brain magnetic resonance imaging revealed several round lesions with peripheral enhancement in temporal, frontal, and insular lobes with subdural collection in the peripheral part of the left frontal lobe. (C) Immunophenotyping of patient’s (Pt) CD4 and CD8 cells measured by flow cytometry. Left: The CD4 cells have a central memory phenotype (CD27⁺CD45RO⁺). Right: The CD8 cells have a TEMRA phenotype (CD27⁻CD45RO⁻) compared with age-matched healthy control (ctrl). The experiment was performed once. (D) PBMCs isolated from the patient and travel control were stimulated with either CD3 and CD28 overnight or with PMA and ionomycin for 5 h and stained for IFN-γ and IL-4. Shown are gated on CD45RO⁺CD4⁺ and CD45RO⁺CD8⁺ cells as measured via flow cytometry. This experiment was performed once. (E) NK cell degranulation in PBMCs from patients and age-matched healthy control was measured by the surface expression of CD107a without stimulation or after stimulation with K562 cells alone and with IL-2. One representative experiment out of two is shown. (F) Neutrophils oxidative burst, determined by flow cytometry analysis of dihydrorhodamine assay, in peripheral blood cells obtained from the patient and age-matched healthy control was measured after stimulation with E. coli bacteria or with PMA. Average data from four different experiments are shown. Statistical analysis was performed using unpaired one-tailed t tests. (G) Superoxide production in neutrophils from the patient and age-matched healthy control was measured as superoxide dismutase–inhibitable reduction of ferricytochrome c. (nmol O²/10⁶PMNs/time) in response to stimulation with PMA or with fMLP. Dashed line indicates stimulation with PMA, and full line indicates stimulation with fMLP. One experiment with seven repeats.