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.