PMC7516301_01
Clinical pictures from oropharyngoscopy and laryngoscopy from the third relapse. (A) Before treatment. The oral cavity and oropharyngeal isthmus show swelling, papilloma-like lesions, and eroded uvula. (B) Before treatment. Swelling of the epiglottis vestibular folds and aryepiglottic folds are seen. (C) One month after treatment. Near-normal findings.
fimmu-11-567856-g001.jpg
PMC7516301_01_fimmu-11-567856-g001.jpg
F1
The uvula was completely eroded (Figure 1), and tracheotomy was again necessary because of edema.
Timeline of the clinical events and treatment strategies. LAB, liposomal amphotericin B; IVIG, intravenous immunoglobulin; SCIG, subcutaneous immunoglobulin.
fimmu-11-567856-g002.jpg
PMC7516301_01_fimmu-11-567856-g002.jpg
F2
Reduction in cell surface levels of CD40L in CD4pos T cells from the index patient compared with a control individual. (A) CD40L expression after PMA/ionomycin stimulation (light red/light green) on CD4pos T-cells and on unstimulated (dark red/dark green) CD4pos T-cells from the index patient (red colors) compared with healthy control (green colors). (B) Control of PMA/ionomycin stimulation monitored by CD69 upregulation on CD4pos T cells in the patient (light red) and a healthy control (light green). PE, phycoerythrin; PerCP, peridinin chlorophyll protein complex.
fimmu-11-567856-g003.jpg
PMC7516301_01_fimmu-11-567856-g003.jpg
F3
Supplementary functional analysis by flowcytometry was conducted to examine CD40L expression on activated CD4 T cells, and a marked lack of CD40L upregulation was found, thus illustrating the pathogenicity of the identified variant (Figure 3).