PMC9047755_01
Lung biopsy of the patient under low power (left upper figure), medium power (right upper), and high power (left lower and right lower) showing interstitial inflammation, infiltration of macrophages and reactive pneumocytes with evidence of diffuse alveolar damage.
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F1
Perimortem lung biopsy showed focally denuded alveolar epithelium and diffuse alveolar damage (Figure 1), compatible with the pathology of fatal SARS infection.
Sanger sequencing of the SH2D1A gene of the patient and his family members done in 2010. The patient and his brother carry the same X-linked mutation in the exon 1 of the SH2D1A gene, which was inherited from their mother. (a) The patient X-linked insertion mutation in exon 1 c.57_59dup; p.Leu21dup. (b) Mother of the patient Heterozygous carrier, X-linked insertion mutation in exon 1 c.57_59dup; p.Leu21dup. (c) Father of the patient Nil. (d) Brother of the patient X-linked insertion mutation in exon 1 c.57_59dup; p.Leu21dup.
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F2
A genetic test of siblings by whole-exome sequencing revealed a pathological hemizygous mutation in the SH2D1A gene (X-linked insertion mutation in exon 1, c.57_59dup; p.Leu21dup, reference sequence LRG_106), confirming the diagnosis of X-linked lymphoproliferative disease type 1 (XLP1), with the mother being a carrier (Figure 2).