PMC9880252_01
The images show suspected liver abscesses (A) and lung abscesses (B). The neutrophil respiratory burst test (C) was performed by flow cytometry. The left panel shows neutrophil activation by phorbol 12-myristate 13-acetate (PMA). The father had normal activation with a single peak in zone P2 and P3 (>90% activation), while the proband had no activation (1.5%), and the mother had two activation peaks (62.7%). The right panel shows gp91phox expression: 4.6% in the proband, 51.7% in the mother, and >90% in the father. The results indicate that the proband is a case of CGD while his mother is a carrier.
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F1
The two large foci were measured as 2.5 cm x 2.5 cm x 2.0 cm at 3.5 cm below the rib and 1.4 cm x 1.3 cm x 1.2 cm at 3.8 cm below the xiphoid process (Figure 1A). Chest CT showed multiple nodules in both lung fields with cavity formation compatible with lung abscess (Figure 1B). The neutrophil respiratory burst test and the quantitative gp91phox protein flow cytometry confirmed the diagnosis of CGD (Figure 1C).
Comparison between our case and previously reported Xp21.1 contiguous gene deletion syndrome with known deletion sites. The detailed genetic data of eight cases in one case series reported by Lhomme et al. (8/8 with McLeod phenotype, 2/8 with DMD, and 1/4 with retinitis pigmentosa) are unavailable, so they cannot be aligned in this figure. Our patient had the most extensive gene deletion of ~7.5 Mb involving six genes with known phenotypes and a gene of unknown significance.
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F2
The genetic analysis showed the deletion of a 7.5 Mb fragment of chromosome Xp21 between p21.2 and p11.4 (Chr X: 30577566-38080045, SEQ [grch37] del Xp21.2-p11.4) in the proband (Figure 2).
(A) Pedigree, nitroblue tetrazolium test (NBT), and genetic test results of family members. All four grandparents and the father have no Xp21.2-11.4 deletion, but the mother and one older sibling are carriers. (B) CNV-seq results of the proband and his mother.
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F3
One of his older sisters and his mother were heterozygous for the same deletion (Figure 3).