case_images: PMC11263070_01
case_images: Representative pictures of the lesions in patient early in their infection. (A), after IFN-a therapy (B), after 4 doses of siltuximab (C), and 6 months after treatment (D), respective.
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case_images: Gradually, asymptomatic granulomatous masses with purulent exudation in the right side of oral cavity developed in the recent 6 months ( Figure 1A ). As the granulomatous mass on the nose corroded the nasal cavity, we conducted surgical resection again but relapsed one month later ( Figure 1B ). Remarkably, this regimen induced a significant reduction in symptoms and lymph node size during the fourth therapy ( Figure 1C ). Prednisone was reduced by half and complete remission was achieved at the sixth therapy ( Figure 1D ).
case_images: (A-F) Microscopies of skin biopsy specimens, hematoxylin and eosin (H&E). (A, B) Biopsy of nose displayed local ulceration of squamous epithelium with inflammatory exudation, granulation tissue hyperplasia and squamous pseudoepithelioma. A significant infiltration of neutrophils, eosinophils, and plasma cells is evident. Degenerative changes in the nuclei of the squamous epithelial cells, particularly at the site of the ulceration, aligns with the histopathological hallmarks consistent with HSV infection. (C, D) Biopsy of oral cavity showed superficial and deep perivascular inflammation with cavernous edema. (E, F) Biopsy of the enlarged right submandibular lymph node revealed follicular hyperplasia, partly thickening of follicular mantle zone, and proliferation of plasma cells in the lymphoid interlobular area, resembling Castleman's disease. (A: H&E, x100; B: H&E, x400; C: H&E, x100; D: H&E, x400; E: H&E, x100; F: H&E, x400).
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case_images: B ). Biopsy from oral cavity showed superficial and deep perivascular inflammation with cavernous edema ( Figures 2C, D ). The pathology of enlarged right submandibular lymph node revealed reactive lymphoid hyperplasia with Castleman-like histology, including follicular hyperplasia, partly thickening of follicular mantle zone, and proliferation of plasma cells in the lymphoid interlobular area ( Figures 2E, F ).
case_images: Deletion in dedicator of cytokinesis 8 (DOCK8). (A) Pedigree of a Chinese family with AR-HIES2. Filled symbol represents the patient. Open symbols represent unaffected individuals. The double lines represent a consanguineous union. Her parents and sister were all healthy. (B) Schematic representation of the wildtype DOCK8 gene, which comprises 48 exons. The patient has a homozygous mutation in the DOCK8 gene, which was a 58.6Kb genomic deletion in exons 1-2 inherited from her parents. (C) To verify whether the proband, her parents and sister had the deletion, we performed qRT-PCR for exon1, Intron1, exon2, Intron2 and exon3 (which was contained in this ~58.6Kb-size deletion) of DOCK8. RNA was isolated from the peripheral blood of the patient, her parents, her sister and three healthy controls by the RNAzol method. CT values were compared with that of ALB by the relative quantification system. The proband and her parents showed the deletion (chr9:214506-273133) in exon 1 and exon 2 of DOCK8.
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case_images: We performed qRT-PCR for exon1, Intron1, exon2, Intron2 and exon3 (which was contained in this ~58.6Kb-size deletion) of DOCK8, and the proband and her parents showed the deletion (chr9:214506-273133) in exon 1 and exon 2 of DOCK8 ( Figure 3 ).