Figure 3 TEM analysis of bronchial mucosal biopsy specimens displayed complete loss of ODAs and IDAs.
After treated with azithromycin, budesonide inhalation solution, and adjuvant mechanical vibration sputum expectoration, he was discharged soon. He had better symptoms, better HRCT and well controlled sinusitis and otitis media during following-up.
Furthermore, both of the siblings did not have the histories of fatty diarrhea, malnutrition, meconium intestinal obstruction. Both of them had normal results of cellular and humoral immune function, normal blood amylase and lipase level, and negative results of tuberculosis infection test (T-SPOT. TB).
With the informed consent of the child’s parents, 2ml whole blood of the siblings and their parents was separately collected for whole-exome sequencing (WES) and Sanger sequencing. Two compound heterozygous mutations in DNAAF2 were found in both siblings, one nonsense mutation of NM_018139: c.156C>A (p.Y52*) was inherited from the mother and one frameshift mutation NM_018139: c.177_178insA (p.E60Rfs*3) was inherited from the father (Fig.4 and 5). The mutation of c.177_178insA (p.E60Rfs*3) has not been reported before.