Figure 1.
Panel A: A pedigree chart showing the genetic relationships and phenotypic manifestations within the affected family. Panel B: A timeline illustrating the progression of disease and treatment response in case 4. The timeline includes key events such as asthma diagnosis, hospital admissions, and various treatments such as inhaled corticosteroids, montelukast, omalizumab, and mepolizumab. Panel C: A computer tomography (CT) scan of the thorax of case 4, showing diffuse bronchial wall thickening and areas of air trapping in the medial basal segments of both lower lobes, indicative of airway inflammation.
Clinical manifestations of the affected family. (a) Pedigree chart illustrating phenotypic manifestations within the kindred. (b) Timeline of disease development and treatment response in case 4. (c) Computer tomography of the thorax in case 4 demonstrating diffuse bronchial wall thickening and areas of air trapping in the medial basal segments of both lower lobes, consistent with airway inflammation. ICU, Intensive Care Unit; ACT, Asthma Control Test; ICS, Inhaled Corticosteroid; LABA, Long-Acting Beta2-Agonist; LAMA, Long-Acting Muscarinic Antagonist.