PMC7490557_01
Functional assays of the family members. After PMA stimulation, only 4.65% of the patient neutrophils could devour APC beads. Other members presented a number of neutrophils with normal phagocytotic functions of >20%.
gr1.jpg
PMC7490557_01_gr1.jpg
fig1
Neutrophil phagocytosis assays revealed that the patient's peripheral blood neutrophils presented impaired phagocytotic functions (Fig. 1).
HRCT showed multiple patchy infiltrating shadows and ill-defined nodular areas of consolidation with air bronchograms in the bilateral regions.
gr2.jpg
PMC7490557_01_gr2.jpg
fig2
High resolution computed tomography (HRCT) revealed multiple patchy infiltrating shadows and a diffuse consolidation with air bronchograms on admission (Fig. 2).
(A) Family tree; (B) Analysis of CYBB gene expression of the patient, showed G deletion at locus c.1234 on the CYBB gene of X chromosome, the same mutation was detected on one of the X chromosomes of his mother, aunt, and grandmother.
gr3.jpg
PMC7490557_01_gr3.jpg
fig3
The family tree of the patient (Fig. 3A) includes three generations with a total of eight people. The proband detected a novel mutation on the CYBB gene in the patient, a G deletion in locus c.1234 on the CYBB gene of X chromosome (c.1234delG) (Fig. 3B).